diff --git a/.gitignore b/.gitignore new file mode 100644 index 0000000..dc6d207 --- /dev/null +++ b/.gitignore @@ -0,0 +1,208 @@ +# Created by .ignore support plugin (hsz.mobi) +### JetBrains template +# Covers JetBrains IDEs: IntelliJ, RubyMine, PhpStorm, AppCode, PyCharm, CLion, Android Studio and WebStorm +# Reference: https://intellij-support.jetbrains.com/hc/en-us/articles/206544839 + +# User-specific stuff +.idea +.idea/**/tasks.xml +.idea/**/usage.statistics.xml +.idea/**/dictionaries +.idea/**/shelf + +# Sensitive or high-churn files +.idea/**/dataSources/ +.idea/**/dataSources.ids +.idea/**/dataSources.local.xml +.idea/**/sqlDataSources.xml +.idea/**/dynamic.xml +.idea/**/uiDesigner.xml +.idea/**/dbnavigator.xml + +# Gradle +.idea/**/gradle.xml +.idea/**/libraries + +# Gradle and Maven with auto-import +# When using Gradle or Maven with auto-import, you should exclude module files, +# since they will be recreated, and may cause churn. Uncomment if using +# auto-import. +# .idea/modules.xml +# .idea/*.iml +# .idea/modules + +# CMake +cmake-build-*/ + +# Mongo Explorer plugin +.idea/**/mongoSettings.xml + +# File-based project format +*.iws + +# IntelliJ +out/ + +# mpeltonen/sbt-idea plugin +.idea_modules/ + +# JIRA plugin +atlassian-ide-plugin.xml + +# Cursive Clojure plugin +.idea/replstate.xml + +# Crashlytics plugin (for Android Studio and IntelliJ) +com_crashlytics_export_strings.xml +crashlytics.properties +crashlytics-build.properties +fabric.properties + +# Editor-based Rest Client +.idea/httpRequests +### R template +# History files +.Rhistory +.Rapp.history + +# Session Data files +.RData + +# Example code in package build process +*-Ex.R + +# Output files from R CMD build +/*.tar.gz + +# Output files from R CMD check +/*.Rcheck/ + +# RStudio files +.Rproj.user/ + +# produced vignettes +vignettes/*.html +vignettes/*.pdf + +# OAuth2 token, see https://github.com/hadley/httr/releases/tag/v0.3 +.httr-oauth + +# knitr and R markdown default cache directories +/*_cache/ +/cache/ + +# Temporary files created by R markdown +*.utf8.md +*.knit.md + +# Shiny token, see https://shiny.rstudio.com/articles/shinyapps.html +rsconnect/ +### Python template +# Byte-compiled / optimized / DLL files +__pycache__/ +*.py[cod] +*$py.class + +# C extensions +*.so + +# Distribution / packaging +.Python +build/ +develop-eggs/ +dist/ +downloads/ +eggs/ +.eggs/ +lib/ +lib64/ +parts/ +sdist/ +var/ +wheels/ +*.egg-info/ +.installed.cfg +*.egg +MANIFEST + +# PyInstaller +# Usually these files are written by a python script from a template +# before PyInstaller builds the exe, so as to inject date/other infos into it. +*.manifest +*.spec + +# Installer logs +pip-log.txt +pip-delete-this-directory.txt + +# Unit test / coverage reports +htmlcov/ +.tox/ +.coverage +.coverage.* +.cache +nosetests.xml +coverage.xml +*.cover +.hypothesis/ +.pytest_cache/ + +# Translations +*.mo +*.pot + +# Django stuff: +*.log +local_settings.py +db.sqlite3 + +# Flask stuff: +instance/ +.webassets-cache + +# Scrapy stuff: +.scrapy + +# Sphinx documentation +docs/_build/ + +# PyBuilder +target/ + +# Jupyter Notebook +.ipynb_checkpoints + +# pyenv +.python-version + +# celery beat schedule file +celerybeat-schedule + +# SageMath parsed files +*.sage.py + +# Environments +.env +.venv +env/ +venv/ +ENV/ +env.bak/ +venv.bak/ + + +# Spyder project settings +.spyderproject +.spyproject + +# Rope project settings +.ropeproject + +# mkdocs documentation +/site + +# mypy +.mypy_cache/ + +Würde bin/3.1_create_gtf/data/ löschen +Würde data/ löschen diff --git a/bin/3.1_create_gtf/Modules/CrossMapper.py b/bin/3.1_create_gtf/Modules/CrossMapper.py index d401c79..82beace 100644 --- a/bin/3.1_create_gtf/Modules/CrossMapper.py +++ b/bin/3.1_create_gtf/Modules/CrossMapper.py @@ -10,26 +10,49 @@ class CrossMapper: Class to download chain_files for chrossmapping hg38 or mm10 to older assembly versions. Utilizes CrossMap.py. see wiki for more information. + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + + """ def __init__(self, org, wd, out, is_dir): - self.org = org + + # Constructor for CrossMapper class + # input_parameter: org = input organism + # wd = working directory + # out = path to output-file -> Parameter + # is_dir = boolean if wd is data_dir or just working directory + + # Get path to tempfile / outputfile and chain-file + if is_dir: - self.infile = os.path.join( wd + "/temp/" + org + ".gtf") + self.infile = os.path.join(wd + "/temp/" + org + ".gtf") else: self.infile = os.path.join(wd+"/data/temp/"+org+".gtf") - self.outfile = os.path.join(out+"/" + org + "_mapped.gtf") + self.outfile = os.path.join(out) self.chainfile = self.get_chain_file(org, wd, is_dir) - # Execute Crossmapper for gff/gtf files + + # Execute Crossmap for gff/gtf files + (mapTree, targetChromSizes, sourceChromSizes) = CrossMap.read_chain_file(self.chainfile) + + # Map results and save output to self.outfile + CrossMap.crossmap_gff_file(mapTree, self.infile, self.outfile) - def get_chain_file(self, org, wd, isdir): + def get_chain_file(self, org, wd, is_data_dir): # Defines the Chain files for different conversions. + # input_parameter: org = organism + # wd = working directory + # is_data_dir = is wd data_dir or not + + # return_value: Link to chain-file for conversion. + # Custom chain-files and chain-files for more organism can be specified in this section if org == "hg19": - if isdir: + if is_data_dir: file_link = os.path.join(wd+"temp/hg38tohg19.over.chain.gz") else: file_link = os.path.join(wd + "/data/temp/hg38tohg19.over.chain.gz" ) @@ -39,7 +62,7 @@ def get_chain_file(self, org, wd, isdir): return file_link elif org == "mm9": - if isdir: + if is_data_dir: file_link = os.path.join(wd+"temp/mm10ToMm9.over.chain.gz") else: file_link = os.path.join(wd + "/data/temp/hg38tohg19.over.chain.gz" ) diff --git a/bin/3.1_create_gtf/Modules/Ensembl/ActivityCategorizer.py b/bin/3.1_create_gtf/Modules/Ensembl/ActivityCategorizer.py index bd82a92..93b3558 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/ActivityCategorizer.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/ActivityCategorizer.py @@ -4,13 +4,27 @@ class ActivityCategorizer: + """ + + Class that categorizes activitydata based on json config and binary activitydata (table.bin). + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + + """ + def __init__(self, release, organism, wd, data_dir): - # List of all Folders with Activity Tables + # Constructor for ActivityCategorizer + # input_parameter: organism = input organism + # release = current used Ensembl release + # wd = working dir (default working directory, data_dir is used if specified) + # data_dir = data directory (this is used as directory if specified) + + # List of all folders with activity Tables self.folderlist = [] - # Dictionary from celltypes_organism.json mit key = Kategorie und Value = [Ordner] + # Dictionary from celltypes_organism.json mit key = category and Value = [directory] self.c_dict = self.read_config(organism, wd) @@ -27,10 +41,19 @@ def __init__(self, release, organism, wd, data_dir): print("Categorization finished !") def get_categorization(self): + + # Getter method to return the self.categorization variable + return self.categorization def read_config(self, organism, wd): + # Method to read the celltypes_organism.json config file + # input_parameter: organism = input organism + # wd = working directory to find the config files. + # return_value: Dictionary with ensembl aliases based on config + # -> Key = type (from config), value = list of ensembl aliases + c_dict = {} path_to_config = os.path.join(wd +"/config/celltypes_"+organism+".json") with open(path_to_config) as input_file: @@ -43,6 +66,13 @@ def read_config(self, organism, wd): def get_activity_data(self, release, organism, wd, data_dir): + # Method to read the binary table.bin file and return its content as bytearray + # input_parameter: organism = input organism + # release = current used Ensembl release + # wd = working dir (default working directory, data_dir is used if specified) + # data_dir = data directory (this is used as directory if specified) + # return_value: bytearray with activitystatus + for folder in self.folderlist: # Generate path to binary File if data_dir: @@ -53,6 +83,9 @@ def get_activity_data(self, release, organism, wd, data_dir): self.activity[folder] = bytearray(tables.read()) def generate_categorized_activity(self): + + # Categorizes the activity by config defined categories. + category_activity = {} for category, aliases in self.c_dict.items(): @@ -80,10 +113,16 @@ def generate_categorized_activity(self): def activity_comparator(self, aliaslist): + # Method to determine the resulting activitystatus if the entry contains + # multiple differing activitystatus from aliases + # e.g. if one alias is ACTIVE and one INACTIVE the result will be ACTIVE -> see wiki for more detailed info + # input_parameter: aliaslist = list of aliases for activity_data + # return_value: Array of Activitystatus by category (type in config) + concatenated_array = bytearray([]) length = len(self.activity[aliaslist[0]]) - input_arrays = [self.activity[x] for x in aliaslist] + input_arrays = [self.activity[index] for index in aliaslist] for x in range(length): if any(y[x] == 0 for y in input_arrays): concatenated_array.append(0) @@ -103,4 +142,4 @@ def activity_comparator(self, aliaslist): # e = ActivityCategorizer("../../config/celltypes_human.json", "release-94", "homo_sapiens") # print(len(e.categorization)) # for x in e.categorization.values(): -# print(len(x)) \ No newline at end of file +# print(len(x)) diff --git a/bin/3.1_create_gtf/Modules/Ensembl/ActivityTable.py b/bin/3.1_create_gtf/Modules/Ensembl/ActivityTable.py index 288bf7d..1354356 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/ActivityTable.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/ActivityTable.py @@ -8,19 +8,34 @@ class ActivityTable: Class for checking activity_table and generating them. activityTable = byte Representation of activity status corresponding to the generator schema default: + 0, "activity=ACTIVE", 1, "activity=POISED", 2, "activity=REPRESSED", 3, "activity=INACTIVE", 4, "activity=NA" + + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, organism, current_release, wd, data_dir): + + # Constructor for the ActivityTable-Class + # input_parameter: organism = input organism + # current_release = current used Ensembl release + # wd = working dir (default working directory, data_dir is used if specified) + # data_dir = data directory (this is used as directory if specified) + if data_dir: self.link = os.path.join(data_dir + "/EnsemblData/", current_release, organism, "activity") else: self.link = os.path.join(wd + "/data/EnsemblData/", current_release, organism, "activity") self.folders = next(os.walk(self.link))[1] + + # List to represent Index with activitystatus for ATGenerator class + self.generator = ATGenerator(["activity=ACTIVE", "activity=POISED", "activity=REPRESSED", @@ -28,17 +43,29 @@ def __init__(self, organism, current_release, wd, data_dir): "activity=NA"]) def check_and_generate_activity_table(self): - # checks if file already exists and generates new one if missing + + # checks if file (table.bin) already exists for celltype -> generates new one if missing + for subfolder in self.folders: folder_link = os.path.join(self.link, subfolder) sf_link = os.path.join(folder_link, "table.bin") + + # If table.bin is missing: + if not os.path.isfile(sf_link): print("No ActivityTable for "+subfolder+" found, generating new one.") self.generate_table(folder_link) + + # Else: Do nothing + print("All ActivityTables found, proceeding") def generate_table(self, link): + # generates the table and saves it as table.bin file + # input_parameter: link = link to ensembl activity folder for specific celltype + # generates table.bin file in link folder + for root, dirs, files in os.walk(link): for file in files: if file.endswith(".gff.gz"): @@ -47,7 +74,8 @@ def generate_table(self, link): with open(file_path, "wb") as f: f.write(self.generator.read_table(originpath)) print("New ActivityTable generated in: " + root) -# Debug -#e = ActivityTable("homo_sapiens", "release-94") -#e.check_and_generate_activity_table() \ No newline at end of file + +# Debug +# e = ActivityTable("homo_sapiens", "release-94") +# e.check_and_generate_activity_table() diff --git a/bin/3.1_create_gtf/Modules/Ensembl/ActivityTableGenerator.py b/bin/3.1_create_gtf/Modules/Ensembl/ActivityTableGenerator.py index f110236..aff787a 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/ActivityTableGenerator.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/ActivityTableGenerator.py @@ -4,14 +4,26 @@ class ATGenerator: """ - Reads saved activity binary files (table.bin) + + Reads gzip files for activitydata and generates a bytearray with activitystatus. + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, repre): + # Constructor with parameter representation: List of keywords with a corresponding index + # Only the index as byte will be appended to a bytearray. + self.representation = repre def read_table(self, file): + + # Reads the activity-ensembl file ("/data/EnsemblData/release/organism/activity/*") + # and returns the activity as bytearray, based on the representation in self.representation. + # Only the index is saved -> see ActivityTable.py for current representation. + activity_table = [] with gzip.open(file, 'rb') as f: for line in f: diff --git a/bin/3.1_create_gtf/Modules/Ensembl/Ensembl.py b/bin/3.1_create_gtf/Modules/Ensembl/Ensembl.py index 88adeb1..8ab23ac 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/Ensembl.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/Ensembl.py @@ -7,23 +7,41 @@ class Ensembl: """ + Main class for handling Ensembl Regulatory data Checks for local files and downloads if files are missing + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, organism, wd, data_dir): + + # Constructor and main method for Ensembl-GTF-Creation + # input_parameter: organism = input organism + # wd = working directory + # data_dir = use data_dir parameter if specified. + print("Starting Ensembl") + # Check and Update for Local Ensembl Release Data self.updater = FTPRetriever(organism, wd, data_dir) self.release = self.updater.get_release() + # Check for Activitytables (table.bin binary files) and generate if not existing self.acttable = ActivityTable(organism, self.release, wd, data_dir) self.acttable.check_and_generate_activity_table() + # Categorize the Activitytable by config defined categories (config: ./config/celltypes_organism.json) self.categorizer = ActivityCategorizer(self.release, organism, wd, data_dir) print("Generating GTF") + # Instatiate self.gtf_generator = GTFGen(organism, self.release, wd, data_dir) print("Ensembl Finished !") def get_gtf(self): + + # Getter Method for resulting GTF-Entries as List. + # return_value: list of gtf entries. + return self.gtf_generator.get_gtf(self.release, self.categorizer.get_categorization()) #e = Ensembl("homo_sapiens") diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/FTPEntry.py b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/FTPEntry.py index 0d7bdc3..531fd18 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/FTPEntry.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/FTPEntry.py @@ -4,25 +4,51 @@ class FTPEntry: """ - Class to determine if a ftp-path is file or directory. + + Class to determine if a ftp-path is file or directory. + Assigns every filename a parameter ('d' = directory or 'f' = file) + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, filename, ftpobj, startingdir=None): + + # Constructor + # input_parameter: filename = the files/directorys name + # ftpobj = Current Instance of FTPLib from URLRetrieve + # startingdir = optional parameter for ftp starting directory (to reduce browsing in ftp) + self.filename = filename if startingdir is None: startingdir = ftpobj.pwd() + + # Try if "filename" is directory + try: ftpobj.cwd(filename) self.filetype = 'd' ftpobj.cwd(startingdir) + + # If error_perm occurs filename is file not directory + except ftplib.error_perm: self.filetype = 'f' def gettype(self): + + # Getter method for filetype + return self.filetype def getfilename(self): + + # Getter method for filenname + return self.filename def __repr__(self): + + # Change the represenation scheme for FTPEntry object. + return self.filename, self.filetype diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/URLRetrieve.py b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/URLRetrieve.py index 6b45598..ee4ce83 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/URLRetrieve.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/URLRetrieve.py @@ -5,30 +5,58 @@ class FTPHandler: """ - Class to browse through ftp folders and download entries to local file + Class to browse through ftp folders and download entries to local file + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, url, wd): + + # Constructor + # input_parameters: wd = woking directory + # url = Url where to browse (in this case ftp.ensembl.org) + self.ftp = ftplib.FTP(url) self.ftp.login() self.ftp.cwd(wd) - def change_dir(self, wd): - self.ftp.cwd(wd) + def change_dir(self, to_dir): + + # Change ftp current working directory to parameter to_dir + + self.ftp.cwd(to_dir) def get_all_entries(self): + + # Get all ftp entries at current working directory + return self.ftp.nlst() def get_all_entries_from_dir(self, dire): + + # Helper method to get all entries in directory (dire) + # input_parameter: dire = directory where to get all entries + # return value: list of all entries + self.change_dir(dire) return self.get_all_entries() def get_all_entries_as_FTPEntry(self): - # Get All Files + + # Get All Files as FTPEntry + # returns list of FTPEntry objects, these objects are helper objects for easier determination if a + # FTP-Entry is file or Folder + files = self.ftp.nlst() return [FTPEntry(item, self.ftp, self.ftp.pwd()) for item in files] def save_entries_to_file(self, origin, target): + + # Method to save targeted entries to file + # input_parameter: origin = Origin FTP-Entries + # target = directory, where to save the files. + self.change_dir(origin) for file in self.get_all_entries_as_FTPEntry(): if file.gettype() == "f": diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/VersionChecker.py b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/VersionChecker.py index d4c1ca6..69edef5 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/VersionChecker.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/VersionChecker.py @@ -5,11 +5,20 @@ class EnsemblRegulationFTPRetriever: """ - Class for checking current version locally and remote on ftp. - And downloading newest version if necessary + Class for checking current version locally and remote on ftp. + And downloading newest version if necessary + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, organism, wd, data_dir): + + # Constructor: + # input_parameter: organism = input organism + # wd = working dir (default working directory, data_dir is used if specified) + # data_dir = data directory (this is used as directory if specified) + self.site_ftp = FTPHandler("ftp.ensembl.org", "pub") self.remoteversion = self.get_current_ftp_version() self.localversion = self.get_current_local_version(wd, data_dir) @@ -19,9 +28,16 @@ def __init__(self, organism, wd, data_dir): print("Newest Version installed, no update needed.") def get_release(self): + + # Getter method for release version from FTP. + return self.remoteversion def get_current_ftp_version(self): + + # Gets the current ftp-version from ftp.ensembl.org + # return_value: string for current release on FTP + entries = self.site_ftp.get_all_entries() versionlist = [] for entry in entries: @@ -32,6 +48,11 @@ def get_current_ftp_version(self): return c_release def check_organism(self, organism, release, wd, data_dir): + + # Check if organism is locally existing + # input_parameter: as in __init__ + # return_value: Boolean if data locally exists or not + if data_dir: if organism in next(os.walk(os.path.join(data_dir+"/EnsemblData/"+release+"/")))[1]: return False @@ -46,6 +67,11 @@ def check_organism(self, organism, release, wd, data_dir): return True def get_current_local_version(self, wd, data_dir): + + # Method to check for the current local version + # input_parameters: wd, data_dir as in __init__() + # return_value: String for local release_version or if not existing None + if data_dir: directories = next(os.walk(os.path.join(data_dir + "/EnsemblData/")))[1] else: @@ -63,6 +89,10 @@ def get_current_local_version(self, wd, data_dir): def check_version_difference(self, organism, wd, data_dir): + # Method to check if local version is differing from remote version + # input_parameters: wd, data_dir, organism as in __init__() + # return_value: Boolean if the version is differing or not + local_version = self.localversion remote_version = self.remoteversion if local_version is None: @@ -81,6 +111,12 @@ def check_version_difference(self, organism, wd, data_dir): def download_currentversion_version(self, version, organism, wd, data_dir): + # Method to download current version from FTP if local version is not up-to-date + # input_parameters: version = version to download + # organism = input organism + # wd = working directory + # data_dir = data directory + # Download Base File if data_dir: targetfolder = os.path.join(data_dir + "/EnsemblData/", version, organism) @@ -93,13 +129,13 @@ def download_currentversion_version(self, version, organism, wd, data_dir): # Download Regulation Activity - activityfolder_local = os.path.join(targetfolder, "activity") # local Folder for Activity Data - activityfolder_remote = folder_url+"RegulatoryFeatureActivity/" # remote (ftp) folder for activity data + activityfolder_local = os.path.join(targetfolder, "activity") # local Folder for Activity Data + activityfolder_remote = folder_url+"RegulatoryFeatureActivity/" # remote (ftp) folder for activity data os.mkdir(activityfolder_local) # Create New Folder + # Get List for all entries in activity Folder + celltypes_list = self.site_ftp.get_all_entries_from_dir(activityfolder_remote) - celltypes_list = self.site_ftp.get_all_entries_from_dir(activityfolder_remote) # Get List for all entries in activity Folder - - # Iterate over Celltype List and Download in corresponding subfolder + # Iterate over celltype List and Download in corresponding subfolder for celltype in celltypes_list: link_local = os.path.join(activityfolder_local, celltype) @@ -108,4 +144,5 @@ def download_currentversion_version(self, version, organism, wd, data_dir): self.site_ftp.save_entries_to_file(link_origin, link_local) -#e = EnsemblRegulationFTPRetriever("mus_musculus") \ No newline at end of file +# Debug section +# e = EnsemblRegulationFTPRetriever("mus_musculus") diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/FTPEntry.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/FTPEntry.cpython-35.pyc deleted file mode 100644 index ef6ba96..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/FTPEntry.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/URLRetrieve.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/URLRetrieve.cpython-35.pyc deleted file mode 100644 index 8bd87f3..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/URLRetrieve.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/VersionChecker.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/VersionChecker.cpython-35.pyc deleted file mode 100644 index f5cbf67..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/VersionChecker.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/__init__.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/__init__.cpython-35.pyc deleted file mode 100644 index 7a3d816..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/FTPHandling/__pycache__/__init__.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/GTFGen.py b/bin/3.1_create_gtf/Modules/Ensembl/GTFGen.py index ca57aa8..eaf88f6 100644 --- a/bin/3.1_create_gtf/Modules/Ensembl/GTFGen.py +++ b/bin/3.1_create_gtf/Modules/Ensembl/GTFGen.py @@ -1,24 +1,37 @@ import os import gzip -import csv class GTFGen: - """ Class to generate Ensembl GTF-data with activity + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, organism, release, wd, data_dir): + # Constructor for GTFGen + # input_parameter: organism = input organism + # release = used Ensembl release + # wd = working directory (default is "."), this is used if data_dir is not specified. + # data_dir = data directory (if specified this is used instead of wd) + self.gff_lines = self.get_organism_as_gff(organism, release, wd, data_dir) + + # Map to assign numbers from Activitytable-binary to activity status + self.value_map = {0: "ACTIVE", 1: "POISED", 2: "REPRESSED", 3: "INACTIVE", 4: "NA"} def get_organism_as_gff(self, organism, release, wd, data_dir): # reads the original gff file for organism + # input_parameter as in __init__ described. + # return_value: list of gff-entries + if data_dir: directory = os.path.join(data_dir + "/EnsemblData/", release, organism) else: @@ -31,9 +44,12 @@ def get_organism_as_gff(self, organism, release, wd, data_dir): with gzip.open(inputfile) as original_file: return original_file.readlines() - def reformat_to_gff(self, activity, release): + def reformat_to_gtf(self, activity, release): # Reformats gff to gtf and appends activity-data for config specified celltype-categories + # input_parameter: activity = list of activity status for all genes + # release = current ensembl release + # return_value: List of gtf-formatted entries gtf_return = [] @@ -51,7 +67,7 @@ def reformat_to_gff(self, activity, release): # Add RegBuild_ + release templist.append("RegBuild_"+release) # Add Description from Description in last ; separated segment - templist.append(splitted_additional[4].split("=")[1].lower()) + templist.append(splitted_additional[4].split("=")[1].lower().replace(' ', '_')) # Add Start / End Data from original templist.extend(splitted[3:5]) # Add Score, Strand and Frame Data @@ -68,24 +84,39 @@ def reformat_to_gff(self, activity, release): @staticmethod def generate_additional_information(gene_id, activity): + # helper method to concat activity information to string and reformat from gff to gtf-style + # input_parameter: gene_id = gene_id formatted in gff format + # activity = List of activity-data for specified gene + # return_value: String for attributes (column 9) in gtf-format + if gene_id.startswith("ID=regulatory_region:"): - gene_id = 'ID "'+gene_id.split(':')[1]+'"' + gene_id = 'gene_id "'+gene_id.split(':')[1]+'"' + elif gene_id.startswith("ID=E"): + gene_id = 'gene_id "'+gene_id.split('=')[1]+'"' activity_string = 'activity "'+', '.join(activity)+'"' - # helper method to concat activity information to string - return gene_id+'; '+activity_string + return gene_id+'; '+activity_string+';' def generate_activity_list(self, activity, index): - # generates activity list + + # generates activity list for a specified index + # input_parameter: index = index for a specified gene + # activity = List of activity-data for all entries + # return_value: List of activity for gene at index + activity_list = [] for key, value in activity.items(): activity_list.append(key+">"+self.value_map[value[index]]) return activity_list def get_gtf(self, release, activity): - # returns the resulting gtf-formatted-list - return self.reformat_to_gff(activity, release) + + # getter function for the resulting gtf-formatted-list + # input_parameters: release, activity as in self.reformat_to_gtf() + # return_value: List of GTF-Entries + + return self.reformat_to_gtf(activity, release) diff --git a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityCategorizer.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityCategorizer.cpython-35.pyc deleted file mode 100644 index 01f43bd..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityCategorizer.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityTable.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityTable.cpython-35.pyc deleted file mode 100644 index 4f9de25..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityTable.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityTableGenerator.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityTableGenerator.cpython-35.pyc deleted file mode 100644 index d0f2a94..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/ActivityTableGenerator.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/Ensembl.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/Ensembl.cpython-35.pyc deleted file mode 100644 index 6cf6bb8..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/Ensembl.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/GTFGen.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/GTFGen.cpython-35.pyc deleted file mode 100644 index 733d499..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/GTFGen.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/__init__.cpython-35.pyc b/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/__init__.cpython-35.pyc deleted file mode 100644 index 2449bb6..0000000 Binary files a/bin/3.1_create_gtf/Modules/Ensembl/__pycache__/__init__.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/Ensembl/checksums.py b/bin/3.1_create_gtf/Modules/Ensembl/checksums.py deleted file mode 100644 index 8f8b92a..0000000 --- a/bin/3.1_create_gtf/Modules/Ensembl/checksums.py +++ /dev/null @@ -1,23 +0,0 @@ -import hashlib - -# Python implementation of linux sum (BSD 16-bit Checksum) commandline tool. - -""" -Unused script with checksum implementations in Python -""" - -def bsdchecksum(infile): - with open(infile, 'rb') as f: - file_bytes = f.read() - c_sum = 0 - for char in file_bytes: - c_sum = (c_sum >> 1) + ((c_sum & 1) << 15) - c_sum += char - c_sum &= 0xffff - return c_sum - - -def md5_checksum(infile): - with open(infile, 'rb') as f: - file_bytes = f.read() - return hashlib.md5(file_bytes).hexdigest() diff --git a/bin/3.1_create_gtf/Modules/SaveResults.py b/bin/3.1_create_gtf/Modules/SaveResults.py index 66c2d97..e0b39e1 100644 --- a/bin/3.1_create_gtf/Modules/SaveResults.py +++ b/bin/3.1_create_gtf/Modules/SaveResults.py @@ -5,24 +5,37 @@ class ResultSaver: """ - class to save the results. Path is dependent on the data_dir, tissuetype and mapped = True or False. - The output is saved to the temp directory in the data folder if crossmapping is necessary. + Class to save the results. The output is saved to the temp directory in the data folder if crossmapping is necessary. + + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ - def __init__(self, results, organism, wd, mapped, is_data_dir, tissue, out): + def __init__(self, results, organism, wd, mapped, is_data_dir, out): + + # Constructor and main method for result-saving + # input_parameter: results = finished list of gtf-entries + # organism = input_organism + # wd = working directory + # mapped = boolean if crossmapping is necessary + # is_data_dir = boolean if wd is a data_dir (true) or not (false) print("Save results to File !") self.path = "" + + # If results has to be crossmapped -> Path is tempdirectory. + if mapped: if is_data_dir: self.path = os.path.join(wd + "/temp/" + organism + ".gtf") else: - self.path = os.path.join( wd + "/data/temp/" + organism + ".gtf" ) - elif tissue: - self.path = os.path.join(out+"/"+organism+"_filtered.gtf") + self.path = os.path.join(wd + "/data/temp/" + organism + ".gtf") + + # if no crossmapping is needed: else: - self.path = os.path.join(out+"/"+organism+".gtf") + self.path = os.path.join(out) with open(self.path, "w") as output_file: for line in results: diff --git a/bin/3.1_create_gtf/Modules/Uniquifier.py b/bin/3.1_create_gtf/Modules/Uniquifier.py index 16d5538..89890c8 100644 --- a/bin/3.1_create_gtf/Modules/Uniquifier.py +++ b/bin/3.1_create_gtf/Modules/Uniquifier.py @@ -1,23 +1,38 @@ class UniqueFilter: - """ Class to get unique GTF-results, filtered by specified cell-/tissuetypes + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + """ def __init__(self, ense, ucsc, org_filter=None): + + # Constructor + # input_parameter: ense = list of gtf-formatted entries from Ensembl data + # ucsc = list of gtf-formatted entries from UCSC data + # org_filter = filter for specific celltype + self.results = self.get_filtered_results(org_filter, ense, ucsc) def get_results(self): + + # Getter method for results variable + return self.results def get_filtered_results(self, org_filter, ense, ucsc): - # Apply Filter + # Method to concat ucsc and ensemble dataset without duplicates and filter by activitylist + # input_parameter: ense = list of gtf-formatted entries from Ensembl data + # ucsc = list of gtf-formatted entries from UCSC data + # org_filter = filter for specific celltype + # return_value: List of unique (filtered) results. - unfiltered_results = self.concat_without_duplicates(ense, ucsc) - if org_filter: + unfiltered_results = self.concat_without_duplicates(ense, ucsc) # First: Concat ucsc and ensembl data + if org_filter: # Second: apply filter if specified filterstrings = [x+">ACTIVE" for x in org_filter] return_list = [] for element in unfiltered_results: @@ -32,6 +47,8 @@ def get_filtered_results(self, org_filter, ense, ucsc): def concat_without_duplicates(ense, ucsc): # Concat UCSC and Ensembl data without duplicates + # input_parameter: ense = ensembl-gtf-data and ucsc = ucsc-gtf-data + # return_value: concatinated list of gtf-entries without duplicates results = ense+ucsc for ens in ense: diff --git a/bin/3.1_create_gtf/Modules/Validator.py b/bin/3.1_create_gtf/Modules/Validator.py new file mode 100644 index 0000000..ee34471 --- /dev/null +++ b/bin/3.1_create_gtf/Modules/Validator.py @@ -0,0 +1,35 @@ +class Validator: + + """ + Class to validate the gtf-output-file. + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de + + """ + + def __init__(self, out_file): + + # Constructor + # input_parameter: out_file = path to output file + + self.out_file = out_file + self.test_read_file() + + def test_read_file(self): + + # Method to test the output file-format + + with open(self.out_file) as outfile: + line = outfile.readline() + + if line: + if len(line.split("\t")) == 9: + print("Validation complete no errors found !") + else: + print("Incorrect output Format: Try again after deleting data folder.") + else: + print("Outputfile not in correct Format: Try again after deleting data Folder.") + exit(1) + +# Debug +# v = Validator("/home/basti/Schreibtisch/test_hg38.gtf") diff --git a/bin/3.1_create_gtf/Modules/__pycache__/CrossMap.cpython-35.pyc b/bin/3.1_create_gtf/Modules/__pycache__/CrossMap.cpython-35.pyc deleted file mode 100644 index bef0d97..0000000 Binary files a/bin/3.1_create_gtf/Modules/__pycache__/CrossMap.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/__pycache__/CrossMapper.cpython-35.pyc b/bin/3.1_create_gtf/Modules/__pycache__/CrossMapper.cpython-35.pyc deleted file mode 100644 index 8f4caae..0000000 Binary files a/bin/3.1_create_gtf/Modules/__pycache__/CrossMapper.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/__pycache__/SaveResults.cpython-35.pyc b/bin/3.1_create_gtf/Modules/__pycache__/SaveResults.cpython-35.pyc deleted file mode 100644 index d11a48f..0000000 Binary files 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a/bin/3.1_create_gtf/Modules/ucsc/__pycache__/ucsc.cpython-35.pyc b/bin/3.1_create_gtf/Modules/ucsc/__pycache__/ucsc.cpython-35.pyc deleted file mode 100644 index a662e52..0000000 Binary files a/bin/3.1_create_gtf/Modules/ucsc/__pycache__/ucsc.cpython-35.pyc and /dev/null differ diff --git a/bin/3.1_create_gtf/Modules/ucsc/bigBedToBed b/bin/3.1_create_gtf/Modules/ucsc/bigBedToBed old mode 100644 new mode 100755 diff --git a/bin/3.1_create_gtf/Modules/ucsc/ucsc.py b/bin/3.1_create_gtf/Modules/ucsc/ucsc.py index a554a4d..f1663b1 100644 --- a/bin/3.1_create_gtf/Modules/ucsc/ucsc.py +++ b/bin/3.1_create_gtf/Modules/ucsc/ucsc.py @@ -8,17 +8,32 @@ class UcscGtf: """ - Class to gather ucsc refSeq-FuncElem data. + + Class to gather data from UCSC Table Browsers, RefFuncGen Tracks. + @author: Sebastian Beyvers + @contact: sebastian.beyvers@med.uni-giessen.de """ def __init__(self, org, wd, data_dir): + + # Constructor for UcscGtf + # input parameter: org = organism + # wd = working directory + # data_dir = data_directory (if defined this is used to save and get data) + self.organism_id = self.get_organism_id(org) + + # FTPlink to UCSC bigbed File + self.link = "http://hgdownload.soe.ucsc.edu/gbdb/"+self.organism_id+"/ncbiRefSeq/refSeqFuncElems.bb" + + # Where to save the output file if data_dir: self.output = os.path.join(data_dir + "/UCSCData" + self.organism_id+".bed") else: self.output = os.path.join(wd + "/data/UCSCData/" + self.organism_id+".bed") + # Determine path to bigBedToBed binary. self.path_to_bin = os.path.join(wd + "/Modules/ucsc/bigBedToBed") print("Getting UCSC Data") print("Path to Bin: " + self.path_to_bin) @@ -28,12 +43,17 @@ def __init__(self, org, wd, data_dir): print("UCSC finished !") def generate_gff_file(self): - # Call bigBedToBed binary to get a Bed file in the UCSCData folder + + # Call bigBedToBed binary to get a BED-file in the UCSCData folder + callstring = [self.path_to_bin, self.link, self.output] subprocess.call(callstring) def read_gff_to_gtf(self): - # Reads Bed File and return a gtf-formatted list of elements. + + # Reads BED-file and return a GTF-formatted list of elements. + # return_value: GTF-formatted List of regulation entries from UCSC + gtf_lines = [] with open(self.output, 'r') as csvfile: tsvreader = csv.reader(csvfile, delimiter='\t') @@ -41,31 +61,39 @@ def read_gff_to_gtf(self): sequence = [] sequence.append(row[0]) sequence.append("UCSC") - sequence.append(row[3].lower()) + sequence.append(row[3].lower().replace(' ', '_')) sequence.append(row[1]) sequence.append(row[2]) sequence.append(".") sequence.append(row[5]) sequence.append(".") - sequence.append('; '.join([self.find_ID(''.join(row[11:])), 'activity \"'+", ".join(self.get_activity(''.join(row[11:]))) + '"'])) + sequence.append('; '.join([self.find_ID(''.join(row[11:])), 'activity \"'+", ".join(self.get_activity(''.join(row[11:]))) + '"'])+";") gtf_lines.append(sequence) return gtf_lines def find_ID(self, line): + # Find RefSeq ID in Line + # input_parameter: line = current line from BED-file + # return_value: string with gene_id in GTF-format + pattern = re.compile(r'ID:[0-9]{,9}|$') ref_id = re.search(pattern, line).group() splitted = ref_id.split(":") if len(splitted) == 2: - returnstring = str(splitted[0])+' "'+str(splitted[1])+'"' + returnstring = 'gene_id "'+str(splitted[1])+'"' else: - returnstring = 'ID '+'"NA"' + returnstring = 'gene_id "NA"' return returnstring def get_activity(self, line): - # Find activity categories in bed file + + # Find activity categories in BED-file + # input_parameter: line = current line from BED-file + # return_value: list with activity for specified line("keystatus") + key_status = [] for key, value in self.ucsc_categories.items(): if value: @@ -79,7 +107,11 @@ def get_activity(self, line): @staticmethod def get_organism_id(org): + # convert intern name e.g. "homo_sapiens" to ucsc name "hg38". + # input_parameter: org = organism parameter + # return_value: UCSC alias for this organism [ mm10 | hg38 ] + if org == "homo_sapiens": return "hg38" elif org == "mus_musculus": @@ -87,7 +119,12 @@ def get_organism_id(org): @staticmethod def get_activity_categories(organism, wd): + # Method to get ucsc-celltype categories from JSON config + # input_parameter: organism = organism parameter + # wd = working directory, to find config file + # return_value: List of categories from config. + path_to_config = os.path.join(wd+"/config/celltypes_" + organism + ".json") categories = {} with open(path_to_config) as input_file: @@ -98,4 +135,8 @@ def get_activity_categories(organism, wd): return categories def get_gtf(self): + + # Getter method for resulting gtf-lines + # return_value: List of gtf-formatted Strings (Lines) + return self.gtf_lines diff --git a/bin/3.1_create_gtf/RegGTFExtractor.py b/bin/3.1_create_gtf/RegGTFExtractor.py index 355d4da..9000341 100644 --- a/bin/3.1_create_gtf/RegGTFExtractor.py +++ b/bin/3.1_create_gtf/RegGTFExtractor.py @@ -1,7 +1,7 @@ """ RegGTFExtractor.py extracts regulatory-data from Ensembl and UCSC databases -and converts output to GTF-formatted file. +and converts the output to a GTF-formatted file. @author: Sebastian Beyvers @contact: sebastian.beyvers@med.uni-giessen.de @@ -14,6 +14,7 @@ from Modules.Uniquifier import UniqueFilter from Modules.SaveResults import ResultSaver from Modules.CrossMapper import CrossMapper +from Modules.Validator import Validator import os import json @@ -21,6 +22,8 @@ def check_for_local_folder(wd): # Check if local folder exists and create if missing when no data_dir is specified + # input_parameter: wd = working directory + # return_value: None if not os.path.isdir(os.path.join(wd+"/data/")): @@ -40,6 +43,8 @@ def check_for_local_folder(wd): def check_for_data_dir(data_dir): # Check if local folder exists and create if missing when data_dir as parameter is specified + # input_parameter: data_dir = data directory + # return_value: None if not os.path.isdir(os.path.join(data_dir)): os.mkdir(os.path.join(data_dir)) @@ -57,6 +62,8 @@ def check_for_data_dir(data_dir): def check_filter(tissue_cmd, org, wd): # Checks if filter-celltype is in Json types for organism + # input_parameter: tissue_cmd: Filtered tissuetypes; org = organism; wd = working directory + # return_value: boolean if selected filter is in config path_to_config = os.path.join(wd + "/config/celltypes_" + org + ".json") tissues_config = [] @@ -77,6 +84,8 @@ def check_filter(tissue_cmd, org, wd): def check_organism(org): # Checks the organism input and decides if chrossmapping is necessary + # input_parameter: org = input organism (parameter) + # return_value: tuple with values = (organism_alias (string), boolean if chrossmapping is needed) if org == "hg38": return "homo_sapiens", False @@ -92,7 +101,12 @@ def check_organism(org): def main_script(organism, wd, data_dir, out, tissuetype=None): - # Main function + # main function + # input_parameter: all parameters from argparse + + # if no output parameter is given output file is "./organism.gtf" + if out == ".": + out = "./"+organism+".gtf" (org, x_mappable) = check_organism(organism) if not data_dir: @@ -113,25 +127,29 @@ def main_script(organism, wd, data_dir, out, tissuetype=None): print("Getting Unique Results") unique_filter = UniqueFilter(ense.get_gtf(), ucsc.get_gtf(), tissues) if data_dir: - ResultSaver(unique_filter.get_results(), organism, data_dir, x_mappable, True, tissues, out) + ResultSaver(unique_filter.get_results(), organism, data_dir, x_mappable, True, out) if x_mappable: CrossMapper(organism, data_dir, out, True) else: - ResultSaver(unique_filter.get_results(), organism, wd, x_mappable, False, tissues, out) + ResultSaver(unique_filter.get_results(), organism, wd, x_mappable, False, out) if x_mappable: CrossMapper(organism, wd, out, False) + # Validate outputfile + + Validator(out) + if __name__ == '__main__': - # Argumentparser + # argument parser parser = argparse.ArgumentParser(description='GTF-Generator from UCSC Table Browser and Ensembl Regulatory Build' ) parser.add_argument('organism', help='Source organism [ hg19 | hg38 or mm9 | mm10 ]', action='store', nargs='?', type=str) parser.add_argument('--tissue', help='Tissue- or Celltype(s)', action='store', nargs='*', type=str) parser.add_argument('--wd', help='Working directory. default: "."', action='store', default=os.getcwd(), type=str) parser.add_argument('--dir', help='Data directory. default: "working_directory"', action='store', default="", type=str) - parser.add_argument('--out', help='Output directory: default: "."', action='store', default=".", type=str) + parser.add_argument('--out', help='Path to output file: default: "./organism.gtf"', action='store', default=".", type=str) args = vars(parser.parse_args()) # Check if organism exists diff --git a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/CHECKSUMS b/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/CHECKSUMS deleted file mode 100644 index a204236..0000000 --- a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/CHECKSUMS +++ /dev/null @@ -1,3 +0,0 @@ -fd500a8b924f0f3ddc5391baf259b429 homo_sapiens.GRCh38.motiffeatures.20161111.gff.gz -b42e919ff359bd873c7e5eea14b49776 homo_sapiens.GRCh38.Regulatory_Build.regulatory_features.20161111.gff.gz -dbd442cdd993ca44cbbf39be620dfa23 README diff --git a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/A549/CHECKSUMS b/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/A549/CHECKSUMS deleted file mode 100644 index 54e4831..0000000 --- a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/A549/CHECKSUMS +++ /dev/null @@ -1 +0,0 @@ -10483 8961 homo_sapiens.GRCh38.A549.Regulatory_Build.regulatory_activity.20161111.gff.gz diff --git a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/A549/homo_sapiens.GRCh38.A549.Regulatory_Build.regulatory_activity.20161111.gff.gz b/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/A549/homo_sapiens.GRCh38.A549.Regulatory_Build.regulatory_activity.20161111.gff.gz deleted file mode 100644 index 69783e7..0000000 Binary files a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/A549/homo_sapiens.GRCh38.A549.Regulatory_Build.regulatory_activity.20161111.gff.gz and /dev/null differ diff --git a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/Aorta/CHECKSUMS b/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/Aorta/CHECKSUMS deleted file mode 100644 index 8198ece..0000000 --- a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/Aorta/CHECKSUMS +++ /dev/null @@ -1 +0,0 @@ -37136 8883 homo_sapiens.GRCh38.Aorta.Regulatory_Build.regulatory_activity.20161111.gff.gz diff --git a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/Aorta/homo_sapiens.GRCh38.Aorta.Regulatory_Build.regulatory_activity.20161111.gff.gz b/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/Aorta/homo_sapiens.GRCh38.Aorta.Regulatory_Build.regulatory_activity.20161111.gff.gz deleted file mode 100644 index 1afc777..0000000 Binary files a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/activity/Aorta/homo_sapiens.GRCh38.Aorta.Regulatory_Build.regulatory_activity.20161111.gff.gz and /dev/null differ diff --git a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/homo_sapiens.GRCh38.Regulatory_Build.regulatory_features.20161111.gff.gz b/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/homo_sapiens.GRCh38.Regulatory_Build.regulatory_features.20161111.gff.gz deleted file mode 100644 index b24d9fc..0000000 Binary files a/bin/3.1_create_gtf/data/EnsemblData/release-94/homo_sapiens/homo_sapiens.GRCh38.Regulatory_Build.regulatory_features.20161111.gff.gz and /dev/null differ diff --git a/bin/3.1_create_gtf/data/UCSCData/hg38.bed b/bin/3.1_create_gtf/data/UCSCData/hg38.bed deleted file mode 100644 index ded9c0c..0000000 --- a/bin/3.1_create_gtf/data/UCSCData/hg38.bed +++ /dev/null @@ -1,5756 +0,0 @@ -chr1 1069211 1069326 enhancer 0 + 1069211 1069326 0,128,128 enhancer 106783496|GeneID:106783496 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr1 3274016 3274864 enhancer 0 + 3274016 3274864 0,128,128 enhancer VISTA enhancer hs705 110120751|GeneID:110120751,63976|GeneID:63976 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] VISTA enhancer hs705 | enhancer in: hindbrain (rhombencephalon)[5/6] -chr1 3345528 3349801 enhancer 0 + 3345528 3349801 0,128,128 enhancer VISTA enhancer hs1912 110121223|GeneID:110121223,63976|GeneID:63976 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/4] VISTA enhancer hs1912 | enhancer in: heart[4/4] -chr1 3503968 3504669 enhancer 0 + 3503968 3504669 0,128,128 enhancer amplified fragment containing the chr1:3420761-3421065 (GRCh37) CAGE region 108281140|GeneID:108281140 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr1:3420761-3421065 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr1 3504196 3504501 CAGE_cluster 0 + 3504196 3504501 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281140|GeneID:108281140 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1 5742550 5743135 DNase_I_hypersensitive_site 0 + 5742550 5743135 0,128,128 region region containing the chr1.1353 DHS; the nucleotide coordinates are approximate for this feature 108281186|GeneID:108281186 22955617|PMID:22955617 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:22955617] region containing the chr1.1353 DHS; the nucleotide coordinates are approximate for this feature -chr1 5742550 5743135 enhancer 0 + 5742550 5743135 0,128,128 enhancer amplified fragment containing the chr1.1353 DHS 108281186|GeneID:108281186 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr1.1353 DHS | nontranscribed enhancer in HeLa cells -chr1 8070378 8071827 enhancer 0 + 8070378 8071827 0,128,128 enhancer VISTA enhancer hs1833 110121213|GeneID:110121213 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | limb[6/8] | branchial arch[6/8] | eye[4/8] | nose[6/8] | facial mesenchyme[6/8] VISTA enhancer hs1833 | enhancer in: neural tube[7/8] | limb[6/8] | branchial arch[6/8] | eye[4/8] | nose[6/8] | facial mesenchyme[6/8] -chr1 8173055 8173586 enhancer 0 + 8173055 8173586 0,128,128 enhancer amplified fragment containing the chr1:8233339-8233435 (GRCh37) region with regulatory potential 108281189|GeneID:108281189 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr1:8233339-8233435 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr1 8173278 8173375 epigenetically_modified_region 0 + 8173278 8173375 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108281189|GeneID:108281189 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr1 9371067 9372775 enhancer 0 + 9371067 9372775 0,128,128 enhancer VISTA enhancer hs1615 110121160|GeneID:110121160 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[4/7] | forebrain[5/7] | branchial arch[6/7] | nose[6/7] | facial mesenchyme[6/7] VISTA enhancer hs1615 | enhancer in: somite[4/7] | forebrain[5/7] | branchial arch[6/7] | nose[6/7] | facial mesenchyme[6/7] -chr1 9627497 9627962 enhancer 0 + 9627497 9627962 0,128,128 enhancer 106783575|GeneID:106783575 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr1 10672012 10673061 enhancer 0 + 10672012 10673061 0,128,128 enhancer VISTA enhancer hs289 110120648|GeneID:110120648 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] VISTA enhancer hs289 | enhancer in: neural tube[5/7] -chr1 10721181 10721687 enhancer 0 + 10721181 10721687 0,128,128 enhancer VISTA enhancer hs389 110120666|GeneID:110120666 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/8] VISTA enhancer hs389 | enhancer in: heart[3/8] -chr1 10735048 10739184 enhancer 0 + 10735048 10739184 0,128,128 enhancer VISTA enhancer hs2094 110121258|GeneID:110121258 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] VISTA enhancer hs2094 | enhancer in: hindbrain (rhombencephalon)[5/5] -chr1 10791512 10792116 enhancer 0 + 10791512 10792116 0,128,128 enhancer VISTA enhancer hs408 110120672|GeneID:110120672 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/4] VISTA enhancer hs408 | enhancer in: forebrain[3/4] -chr1 10905071 10906087 enhancer 0 + 10905071 10906087 0,128,128 enhancer VISTA enhancer hs241 110120623|GeneID:110120623 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: cranial nerve[5/5] VISTA enhancer hs241 | enhancer in: cranial nerve[5/5] -chr1 11885470 11889433 enhancer 0 + 11885470 11889433 0,128,128 enhancer VISTA enhancer hs2125 110121260|GeneID:110121260 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/7] VISTA enhancer hs2125 | enhancer in: heart[6/7] -chr1 16023928 16024762 non_allelic_homologous 0 + 16023928 16024762 160,82,45 recombination_feature sub-region a, recombines with sub-region a' within the CLCNKB recombination region 106501712|GeneID:106501712,1187|GeneID:1187 9326936|PMID:9326936 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9326936] sub-region a, recombines with sub-region a' within the CLCNKB recombination region -chr1 16029800 16029964 non_allelic_homologous 0 + 16029800 16029964 160,82,45 recombination_feature sub-region b, recombines with sub-region b' within the CLCNKB recombination region 106501712|GeneID:106501712,1187|GeneID:1187 10906158|PMID:10906158 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10906158] sub-region b, recombines with sub-region b' within the CLCNKB recombination region -chr1 16034050 16036205 non_allelic_homologous 0 + 16034050 16036205 160,82,45 recombination_feature sub-region c, recombines with sub-region c' within the CLCNKB recombination region 106501712|GeneID:106501712 15044642|PMID:15044642 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:15044642] sub-region c, recombines with sub-region c' within the CLCNKB recombination region -chr1 16044592 16045557 non_allelic_homologous 0 + 16044592 16045557 160,82,45 recombination_feature sub-region a', recombines with sub-region a within the CLCNKA recombination region 106501713|GeneID:106501713,1188|GeneID:1188 9326936|PMID:9326936 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9326936] sub-region a', recombines with sub-region a within the CLCNKA recombination region -chr1 16051375 16054065 meiotic 0 + 16051375 16054065 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 106501713|GeneID:106501713,1188|GeneID:1188 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr1 16051499 16051520 nucleotide_motif 0 + 16051499 16051520 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106501713|GeneID:106501713,1188|GeneID:1188 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr1 16051547 16051709 non_allelic_homologous 0 + 16051547 16051709 160,82,45 recombination_feature sub-region b', recombines with sub-region b within the CLCNKA recombination region 106501713|GeneID:106501713,1188|GeneID:1188 10906158|PMID:10906158 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10906158] sub-region b', recombines with sub-region b within the CLCNKA recombination region -chr1 16052513 16054065 meiotic 0 + 16052513 16054065 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 106501713|GeneID:106501713,1188|GeneID:1188 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr1 16053402 16053415 nucleotide_motif 0 + 16053402 16053415 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106501713|GeneID:106501713,1188|GeneID:1188 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 16057308 16059459 non_allelic_homologous 0 + 16057308 16059459 160,82,45 recombination_feature sub-region c', recombines with sub-region c within the CLCNKA recombination region 106501713|GeneID:106501713 15044642|PMID:15044642 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:15044642] sub-region c', recombines with sub-region c within the CLCNKA recombination region -chr1 18630529 18631315 promoter 0 + 18630529 18631315 0,128,128 promoter BamHI/NaeI fragment spanning -403 to +373 108254694|GeneID:108254694 12234688|PMID:12234688 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12234688] BamHI/NaeI fragment spanning -403 to +373 -chr1 18630718 18631629 promoter 0 + 18630718 18631629 0,128,128 promoter -781 promoter fragment 108254694|GeneID:108254694 10839462|PMID:10839462 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10839462] -781 promoter fragment -chr1 18631352 18631629 promoter 0 + 18631352 18631629 0,128,128 promoter -149 promoter fragment 108254694|GeneID:108254694,5081|GeneID:5081 10839462|PMID:10839462 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10839462] minimal promoter in A673 cells -149 promoter fragment | minimal promoter in A673 cells -chr1 18632168 18633682 enhancer 0 + 18632168 18633682 0,128,128 enhancer chr1 NRF1 and E2F4 HCT region in PAX7 intron 108175348|GeneID:108175348,5081|GeneID:5081 20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20363979] HCT enhancer in diencephalon chr1 NRF1 and E2F4 HCT region in PAX7 intron | HCT enhancer in diencephalon -chr1 18632176 18633790 enhancer 0 + 18632176 18633790 0,128,128 enhancer VISTA enhancer hs1702 108175348|GeneID:108175348,5081|GeneID:5081 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/8] VISTA enhancer hs1702 | enhancer in: midbrain (mesencephalon)[6/8] -chr1 18632688 18632929 conserved_region 0 + 18632688 18632929 192,0,192 sequence_feature conserved region; HCT with multiple NRF1 binding motifs 108175348|GeneID:108175348,5081|GeneID:5081 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple NRF1 binding motifs -chr1 18632856 18633060 conserved_region 0 + 18632856 18633060 192,0,192 sequence_feature conserved region; HCT with multiple E2F4 binding motifs 108175348|GeneID:108175348,5081|GeneID:5081 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple E2F4 binding motifs -chr1 25022138 25023701 enhancer 0 + 25022138 25023701 0,128,128 enhancer RUNX3P2E2 fragment for enhancer region 2 109851610|GeneID:109851610 26883634|PMID:26883634 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26883634] Epstein-Barr virus responsive enhancer RUNX3P2E2 fragment for enhancer region 2 | Epstein-Barr virus responsive enhancer -chr1 26093361 26098252 enhancer 0 + 26093361 26098252 0,128,128 enhancer VISTA enhancer hs2271 110121289|GeneID:110121289 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/4] VISTA enhancer hs2271 | enhancer in: heart[3/4] -chr1 26723099 26724341 enhancer 0 + 26723099 26724341 0,128,128 enhancer heart enhancer 10; zebrafish transgenic reporter assay 107988049|GeneID:107988049,8289|GeneID:8289 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 10; zebrafish transgenic reporter assay | enhancer in heart -chr1 26723128 26724414 enhancer 0 + 26723128 26724414 0,128,128 enhancer VISTA enhancer hs569; mouse transgenic reporter assay 107988049|GeneID:107988049,8289|GeneID:8289 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/9] VISTA enhancer hs569; mouse transgenic reporter assay | enhancer in: heart[4/9] -chr1 31955825 31956433 enhancer 0 + 31955825 31956433 0,128,128 enhancer amplified fragment containing most of the chr1:32421622-32422096 (GRCh37) CAGE region 108254669|GeneID:108254669 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr1:32421622-32422096 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr1 31956020 31956495 CAGE_cluster 0 + 31956020 31956495 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254669|GeneID:108254669 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1 32044428 32045312 enhancer 0 + 32044428 32045312 0,128,128 enhancer VISTA enhancer hs645 110120729|GeneID:110120729,10657|GeneID:10657 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/5] VISTA enhancer hs645 | enhancer in: other[4/5] -chr1 33363187 33365346 enhancer 0 + 33363187 33365346 0,128,128 enhancer VISTA enhancer hs1388 110121088|GeneID:110121088 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/12] | midbrain (mesencephalon)[7/12] | forebrain[8/12] | other[7/12] VISTA enhancer hs1388 | enhancer in: neural tube[7/12] | midbrain (mesencephalon)[7/12] | forebrain[8/12] | other[7/12] -chr1 38094521 38095934 enhancer 0 + 38094521 38095934 0,128,128 enhancer VISTA enhancer hs238 110120621|GeneID:110120621,105378653|GeneID:105378653 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[13/20] VISTA enhancer hs238 | enhancer in: neural tube[13/20] -chr1 38246402 38247845 enhancer 0 + 38246402 38247845 0,128,128 enhancer VISTA enhancer hs1001 110120958|GeneID:110120958 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[10/11] | forebrain[9/11] VISTA enhancer hs1001 | enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[10/11] | forebrain[9/11] -chr1 38262512 38266844 enhancer 0 + 38262512 38266844 0,128,128 enhancer VISTA enhancer hs2088 110121256|GeneID:110121256 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[3/7] VISTA enhancer hs2088 | enhancer in: ear[3/7] -chr1 38370323 38372434 enhancer 0 + 38370323 38372434 0,128,128 enhancer VISTA enhancer hs1546 110121139|GeneID:110121139 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs1546 | enhancer in: forebrain[4/5] -chr1 38726936 38728462 enhancer 0 + 38726936 38728462 0,128,128 enhancer VISTA enhancer hs1031 110120969|GeneID:110120969 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[3/10] VISTA enhancer hs1031 | enhancer in: nose[3/10] -chr1 38783084 38784457 enhancer 0 + 38783084 38784457 0,128,128 enhancer VISTA enhancer hs1139 110121002|GeneID:110121002 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] VISTA enhancer hs1139 | enhancer in: hindbrain (rhombencephalon)[5/5] -chr1 44034710 44037665 enhancer 0 + 44034710 44037665 0,128,128 enhancer VISTA enhancer hs1857 110121214|GeneID:110121214,107984948|GeneID:107984948 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/5] VISTA enhancer hs1857 | enhancer in: midbrain (mesencephalon)[5/5] -chr1 44249747 44250457 enhancer 0 + 44249747 44250457 0,128,128 enhancer VISTA enhancer hs277 110120642|GeneID:110120642 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/4] VISTA enhancer hs277 | enhancer in: midbrain (mesencephalon)[3/4] -chr1 44524151 44525477 enhancer 0 + 44524151 44525477 0,128,128 enhancer VISTA enhancer hs280 110120644|GeneID:110120644,55182|GeneID:55182 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/4] VISTA enhancer hs280 | enhancer in: limb[4/4] -chr1 50110962 50111143 enhancer 0 + 50110962 50111143 0,128,128 enhancer heart enhancer 18 107992392|GeneID:107992392,1996|GeneID:1996 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 18 | enhancer in heart -chr1 50568873 50570617 enhancer 0 + 50568873 50570617 0,128,128 enhancer VISTA enhancer hs194 110120607|GeneID:110120607 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/9] VISTA enhancer hs194 | enhancer in: midbrain (mesencephalon)[7/9] -chr1 50699522 50701114 enhancer 0 + 50699522 50701114 0,128,128 enhancer VISTA enhancer hs200 110120609|GeneID:110120609 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[10/11] | limb[4/11] VISTA enhancer hs200 | enhancer in: forebrain[10/11] | limb[4/11] -chr1 54459372 54463153 enhancer 0 + 54459372 54463153 0,128,128 enhancer VISTA enhancer hs1487 110121126|GeneID:110121126 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[8/9] VISTA enhancer hs1487 | enhancer in: limb[8/9] -chr1 55774430 55776762 enhancer 0 + 55774430 55776762 0,128,128 enhancer VISTA enhancer hs1622 110121161|GeneID:110121161 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/6] | branchial arch[5/6] | facial mesenchyme[5/6] VISTA enhancer hs1622 | enhancer in: limb[5/6] | branchial arch[5/6] | facial mesenchyme[5/6] -chr1 59056652 59058420 enhancer 0 + 59056652 59058420 0,128,128 enhancer VISTA enhancer hs1485 110121125|GeneID:110121125,101926925|GeneID:101926925 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs1485 | enhancer in: limb[3/5] -chr1 61452122 61454518 enhancer 0 + 61452122 61454518 0,128,128 enhancer VISTA enhancer hs1309 110121050|GeneID:110121050,4774|GeneID:4774 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/7] | forebrain[7/7] | limb[5/7] | nose[5/7] | heart[5/7] VISTA enhancer hs1309 | enhancer in: midbrain (mesencephalon)[7/7] | forebrain[7/7] | limb[5/7] | nose[5/7] | heart[5/7] -chr1 61579787 61582487 enhancer 0 + 61579787 61582487 0,128,128 enhancer VISTA enhancer hs1484 110121124|GeneID:110121124 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/8] | limb[8/8] VISTA enhancer hs1484 | enhancer in: forebrain[7/8] | limb[8/8] -chr1 61587760 61590236 enhancer 0 + 61587760 61590236 0,128,128 enhancer VISTA enhancer hs1450 110121108|GeneID:110121108 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | forebrain[8/8] VISTA enhancer hs1450 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | forebrain[8/8] -chr1 62903677 62905223 enhancer 0 + 62903677 62905223 0,128,128 enhancer VISTA enhancer hs311 110120659|GeneID:110120659 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/5] VISTA enhancer hs311 | enhancer in: neural tube[5/5] -chr1 62977862 62979213 enhancer 0 + 62977862 62979213 0,128,128 enhancer VISTA enhancer hs168 110120599|GeneID:110120599 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[3/4] VISTA enhancer hs168 | enhancer in: dorsal root ganglion[3/4] -chr1 62998610 63000046 enhancer 0 + 62998610 63000046 0,128,128 enhancer VISTA enhancer hs169 110120600|GeneID:110120600 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] VISTA enhancer hs169 | enhancer in: neural tube[4/4] -chr1 63199547 63200451 enhancer 0 + 63199547 63200451 0,128,128 enhancer VISTA enhancer hs764 110120763|GeneID:110120763 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/8] | hindbrain (rhombencephalon)[5/8] VISTA enhancer hs764 | enhancer in: neural tube[5/8] | hindbrain (rhombencephalon)[5/8] -chr1 79075661 79083449 enhancer 0 + 79075661 79083449 0,128,128 enhancer VISTA enhancer hs1989 110121238|GeneID:110121238 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/3] VISTA enhancer hs1989 | enhancer in: limb[3/3] -chr1 82879682 82880588 enhancer 0 + 82879682 82880588 0,128,128 enhancer VISTA enhancer hs442 110120683|GeneID:110120683,107985396|GeneID:107985396 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[3/3] VISTA enhancer hs442 | enhancer in: other[3/3] -chr1 87329508 87331054 enhancer 0 + 87329508 87331054 0,128,128 enhancer VISTA enhancer hs809 110120776|GeneID:110120776,8543|GeneID:8543 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[5/14] | cranial nerve[4/14] VISTA enhancer hs809 | enhancer in: branchial arch[5/14] | cranial nerve[4/14] -chr1 87355937 87357399 enhancer 0 + 87355937 87357399 0,128,128 enhancer VISTA enhancer hs174 110120602|GeneID:110120602 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/12] | limb[3/12] VISTA enhancer hs174 | enhancer in: forebrain[9/12] | limb[3/12] -chr1 87356109 87357227 enhancer 0 + 87356109 87357227 0,128,128 enhancer VISTA enhancer hs322 110120602|GeneID:110120602 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs322 | enhancer in: forebrain[4/5] -chr1 87560179 87561520 enhancer 0 + 87560179 87561520 0,128,128 enhancer VISTA enhancer hs1161 110121010|GeneID:110121010 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] VISTA enhancer hs1161 | enhancer in: forebrain[6/7] -chr1 87599357 87600847 enhancer 0 + 87599357 87600847 0,128,128 enhancer VISTA enhancer hs1217 110121031|GeneID:110121031 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/8] VISTA enhancer hs1217 | enhancer in: neural tube[5/8] -chr1 87642400 87643713 enhancer 0 + 87642400 87643713 0,128,128 enhancer VISTA enhancer hs1002 110120959|GeneID:110120959 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/5] VISTA enhancer hs1002 | enhancer in: heart[3/5] -chr1 88070035 88072707 enhancer 0 + 88070035 88072707 0,128,128 enhancer VISTA enhancer hs1198 110121023|GeneID:110121023 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/6] VISTA enhancer hs1198 | enhancer in: other[4/6] -chr1 88150003 88151244 enhancer 0 + 88150003 88151244 0,128,128 enhancer VISTA enhancer hs878 110120795|GeneID:110120795 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[9/10] | tail[6/10] VISTA enhancer hs878 | enhancer in: limb[9/10] | tail[6/10] -chr1 88220392 88222057 enhancer 0 + 88220392 88222057 0,128,128 enhancer VISTA enhancer hs1107 110120990|GeneID:110120990 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/6] VISTA enhancer hs1107 | enhancer in: dorsal root ganglion[5/6] -chr1 88461112 88462825 enhancer 0 + 88461112 88462825 0,128,128 enhancer VISTA enhancer hs327 110120664|GeneID:110120664 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/10] VISTA enhancer hs327 | enhancer in: hindbrain (rhombencephalon)[8/10] -chr1 90840004 90841658 enhancer 0 + 90840004 90841658 0,128,128 enhancer VISTA enhancer hs612 110120716|GeneID:110120716 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] VISTA enhancer hs612 | enhancer in: forebrain[5/6] -chr1 97144934 97146185 enhancer 0 + 97144934 97146185 0,128,128 enhancer VISTA enhancer hs671 110120739|GeneID:110120739,100873932|GeneID:100873932 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/7] VISTA enhancer hs671 | enhancer in: forebrain[7/7] -chr1 101922188 101924716 meiotic 0 + 101922188 101924716 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU and YRI populations 107457601|GeneID:107457601 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU and YRI populations -chr1 101923403 101925357 meiotic 0 + 101923403 101925357 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457601|GeneID:107457601 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr1 101923583 101924883 meiotic 0 + 101923583 101924883 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with PRDM9 A alleles, and little recombination in some individuals with other PRDM9 alleles 107457601|GeneID:107457601 18650392|PMID:18650392,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392, PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with PRDM9 A alleles, and little recombination in some individuals with other PRDM9 alleles -chr1 101924249 101924265 nucleotide_motif 0 + 101924249 101924265 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457601|GeneID:107457601 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr1 101924646 101924659 nucleotide_motif 0 + 101924646 101924659 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107457601|GeneID:107457601 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 109253073 109256228 enhancer 0 + 109253073 109256228 0,128,128 enhancer VISTA enhancer hs2216 110121283|GeneID:110121283,1952|GeneID:1952 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/10] | dorsal root ganglion[9/10] | trigeminal V (ganglion, cranial)[9/10] | cranial nerve[7/10] VISTA enhancer hs2216 | enhancer in: hindbrain (rhombencephalon)[6/10] | dorsal root ganglion[9/10] | trigeminal V (ganglion, cranial)[9/10] | cranial nerve[7/10] -chr1 109274251 109276283 enhancer 0 + 109274251 109276283 0,128,128 enhancer VISTA enhancer hs2263 110121285|GeneID:110121285 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/11] VISTA enhancer hs2263 | enhancer in: other[4/11] -chr1 112997433 112999398 enhancer 0 + 112997433 112999398 0,128,128 enhancer VISTA enhancer hs1672 110121184|GeneID:110121184 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/7] VISTA enhancer hs1672 | enhancer in: heart[7/7] -chr1 116751949 116754547 promoter 0 + 116751949 116754547 0,128,128 promoter CM2.5 BglII to +55 full-length promoter fragment; includes DHS1 and DHS2 107161156|GeneID:107161156 7929376|PMID:7929376,11181063|PMID:11181063 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7929376, PMID:11181063] CD2 T cell-specific gene expression CM2.5 BglII to +55 full-length promoter fragment; includes DHS1 and DHS2 | CD2 T cell-specific gene expression -chr1 116752179 116752679 transcriptional_cis_regulatory_region 0 + 116752179 116752679 0,128,128 region 0.5 kb activator PCR fragment 107161156|GeneID:107161156 11181063|PMID:11181063 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11181063] CD2 transcriptional activation 0.5 kb activator PCR fragment | CD2 transcriptional activation -chr1 116752179 116753183 DNase_I_hypersensitive_site 0 + 116752179 116753183 0,128,128 region DHS1; 1 kb PCR fragment from PMID:11181063; includes activator and silencer regions; the nucleotide coordinates are approximate for this feature 107161156|GeneID:107161156 2567000|PMID:2567000,11181063|PMID:11181063 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2567000] DHS1; 1 kb PCR fragment from PMID:11181063; includes activator and silencer regions; the nucleotide coordinates are approximate for this feature -chr1 116752679 116753183 silencer 0 + 116752679 116753183 0,128,128 silencer 0.5 kb silencer PCR fragment 107161156|GeneID:107161156 11181063|PMID:11181063 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11181063] CD2 transcriptional repression 0.5 kb silencer PCR fragment | CD2 transcriptional repression -chr1 116753016 116753046 transcriptional_cis_regulatory_region 0 + 116753016 116753046 0,128,128 region AP2-binding site probe; binds an unidentified factor but not AP2 107161156|GeneID:107161156 11181063|PMID:11181063 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11181063] required for repressor activity AP2-binding site probe; binds an unidentified factor but not AP2 | required for repressor activity -chr1 116754104 116754547 promoter 0 + 116754104 116754547 0,128,128 promoter CM0.5 AccI to +55 minimal promoter fragment; includes DHS2 only 107161156|GeneID:107161156 7929376|PMID:7929376,11181063|PMID:11181063 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7929376, PMID:11181063] CD2 T cell-specific gene expression CM0.5 AccI to +55 minimal promoter fragment; includes DHS2 only | CD2 T cell-specific gene expression -chr1 116754124 116754524 DNase_I_hypersensitive_site 0 + 116754124 116754524 0,128,128 region DHS2; the nucleotide coordinates are approximate for this feature 107161156|GeneID:107161156 2567000|PMID:2567000 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2567000] DHS2; the nucleotide coordinates are approximate for this feature -chr1 116754383 116754413 protein_bind: upstream transcription factor protein(s) 0 + 116754383 116754413 192,0,0 protein_binding_site USF-binding E box motif 107161156|GeneID:107161156 7929376|PMID:7929376 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7929376] required for CD2 basal transcriptional activity USF-binding E box motif | required for CD2 basal transcriptional activity | upstream transcription factor protein(s) -chr1 116769216 116770316 enhancer 0 + 116769216 116770316 0,128,128 enhancer 1.1 kb exonuclease III-digested HindIII fragment with partial/complete exclusion of HSS2 and HSS3; 3' coordinate approximate 107126361|GeneID:107126361 1682894|PMID:1682894 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1682894] CD2 enhancer that lacks copy number-dependent and position-indpendent function in transgenes 1.1 kb exonuclease III-digested HindIII fragment with partial/complete exclusion of HSS2 and HSS3; 3' coordinate approximate | CD2 enhancer that lacks copy number-dependent and position-indpendent function in transgenes -chr1 116769216 116770516 enhancer 0 + 116769216 116770516 0,128,128 enhancer 1.3 kb exonuclease III-digested HindIII fragment with exclusion of HSS3; 3' coordinate approximate 107126361|GeneID:107126361 8599090|PMID:8599090,10581035|PMID:10581035 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8599090, PMID:10581035] CD2 enhancer that confers mosaic expression in transgenes 1.3 kb exonuclease III-digested HindIII fragment with exclusion of HSS3; 3' coordinate approximate | CD2 enhancer that confers mosaic expression in transgenes -chr1 116769216 116770716 enhancer 0 + 116769216 116770716 0,128,128 enhancer 1.5 kb exonuclease III-digested HindIII fragment with partial exclusion of HSS3; 3' coordinate approximate 107126361|GeneID:107126361 1682894|PMID:1682894,8599090|PMID:8599090 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1682894, PMID:8599090] CD2 enhancer that confers copy number-dependent but mosaic expression in transgenes 1.5 kb exonuclease III-digested HindIII fragment with partial exclusion of HSS3; 3' coordinate approximate | CD2 enhancer that confers copy number-dependent but mosaic expression in transgenes -chr1 116769216 116771338 locus_control_region 0 + 116769216 116771338 0,128,128 locus_control_region 2.1 kb HindIII fragment 107126361|GeneID:107126361 1682894|PMID:1682894,8599090|PMID:8599090 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1682894, PMID:8599090] lymphocyte-specific developmental regulation of the CD2 gene 2.1 kb HindIII fragment | lymphocyte-specific developmental regulation of the CD2 gene -chr1 116769253 116774826 locus_control_region 0 + 116769253 116774826 0,128,128 locus_control_region 5.5 kb BamHI-XbaI fragment 107126361|GeneID:107126361 2564317|PMID:2564317,7665895|PMID:7665895 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:2564317, PMID:7665895] lymphocyte-specific developmental regulation of the CD2 gene 5.5 kb BamHI-XbaI fragment | lymphocyte-specific developmental regulation of the CD2 gene -chr1 116769616 116770216 DNase_I_hypersensitive_site 0 + 116769616 116770216 0,128,128 region HSS1; the nucleotide coordinates are approximate for this feature 107126361|GeneID:107126361 8599090|PMID:8599090 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8599090] LCR enhancer region HSS1; the nucleotide coordinates are approximate for this feature | LCR enhancer region -chr1 116769648 116770178 enhancer 0 + 116769648 116770178 0,128,128 enhancer 550 bp AflII-MstII fragment 107126361|GeneID:107126361 2209539|PMID:2209539 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2209539] minimal CD2 enhancer 550 bp AflII-MstII fragment | minimal CD2 enhancer -chr1 116769663 116769684 transcriptional_cis_regulatory_region 0 + 116769663 116769684 0,128,128 region CD2E1 sequence 107126361|GeneID:107126361 7706298|PMID:7706298 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7706298] necessary for full enhancer activity CD2E1 sequence | necessary for full enhancer activity -chr1 116769751 116769775 protein_bind: SRY-box 4 0 + 116769751 116769775 192,0,0 protein_binding_site CD2E2 SOX4-binding site 107126361|GeneID:107126361 7706298|PMID:7706298 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7706298] reporter gene transactivation CD2E2 SOX4-binding site | reporter gene transactivation | SRY-box 4 -chr1 116769751 116769775 transcriptional_cis_regulatory_region 0 + 116769751 116769775 0,128,128 region CD2E2 sequence 107126361|GeneID:107126361 7706298|PMID:7706298 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7706298] necessary for full enhancer activity CD2E2 sequence | necessary for full enhancer activity -chr1 116769849 116769872 transcriptional_cis_regulatory_region 0 + 116769849 116769872 0,128,128 region CD2E3 sequence 107126361|GeneID:107126361 7706298|PMID:7706298 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7706298] necessary for full enhancer activity CD2E3 sequence | necessary for full enhancer activity -chr1 116769946 116769978 protein_bind: E74-like factor 1 (ets domain transcription factor) 0 + 116769946 116769978 192,0,0 protein_binding_site CD2E4 Elf1-binding site; cannot confer transcriptional inducibility on a reporter gene 107126361|GeneID:107126361 7706298|PMID:7706298 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7706298] CD2E4 Elf1-binding site; cannot confer transcriptional inducibility on a reporter gene | E74-like factor 1 (ets domain transcription factor) -chr1 116769946 116769978 transcriptional_cis_regulatory_region 0 + 116769946 116769978 0,128,128 region CD2E4 sequence 107126361|GeneID:107126361 7706298|PMID:7706298 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7706298] necessary for full enhancer activity CD2E4 sequence | necessary for full enhancer activity -chr1 116770216 116770566 DNase_I_hypersensitive_site 0 + 116770216 116770566 0,128,128 region HSS2; the nucleotide coordinates are approximate for this feature 107126361|GeneID:107126361 8599090|PMID:8599090 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8599090] HSS2; the nucleotide coordinates are approximate for this feature -chr1 116770616 116771016 DNase_I_hypersensitive_site 0 + 116770616 116771016 0,128,128 region HSS3; the nucleotide coordinates are approximate for this feature 107126361|GeneID:107126361 8599090|PMID:8599090 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8599090] required for prevention of position effect variegation HSS3; the nucleotide coordinates are approximate for this feature | required for prevention of position effect variegation -chr1 116770644 116770656 protein_bind: HMG-box transcription factor 1 0 + 116770644 116770656 192,0,0 protein_binding_site HBP1-binding site 107126361|GeneID:107126361 10562551|PMID:10562551 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10562551] necessary to protect transgenes integrated in heterochromatic regions from position effect variegation HBP1-binding site | necessary to protect transgenes integrated in heterochromatic regions from position effect variegation | HMG-box transcription factor 1 -chr1 118485402 118487332 enhancer 0 + 118485402 118487332 0,128,128 enhancer VISTA enhancer hs1428 110121098|GeneID:110121098 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[5/9] | limb[9/9] VISTA enhancer hs1428 | enhancer in: somite[5/9] | limb[9/9] -chr1 119414076 119415203 promoter 0 + 119414076 119415203 0,128,128 promoter -1073 to +53 promoter fragment 109029530|GeneID:109029530 15928316|PMID:15928316 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15928316] -1073 to +53 promoter fragment -chr1 119414246 119414266 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 119414246 119414266 192,0,0 protein_binding_site FP1 site 109029530|GeneID:109029530 14671206|PMID:14671206 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14671206] positive regulation of promoter activity FP1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 2 -chr1 119414626 119415344 promoter 0 + 119414626 119415344 0,128,128 promoter -583 to +193 promoter fragment 109029530|GeneID:109029530 15291746|PMID:15291746 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15291746] -583 to +193 promoter fragment -chr1 119414820 119414840 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 119414820 119414840 192,0,0 protein_binding_site FP2 site 109029530|GeneID:109029530 14671206|PMID:14671206 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14671206] important for promoter activity FP2 site | important for promoter activity | nuclear receptor subfamily 5 group A member 2 -chr1 119414944 119414962 protein_bind: GATA binding protein 4 0 + 119414944 119414962 192,0,0 protein_binding_site -196 GATA site 109029530|GeneID:109029530,3284|GeneID:3284 15928316|PMID:15928316 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15928316] positive regulation of promoter activity -196 GATA site | positive regulation of promoter activity | GATA binding protein 4 -chr1 119415011 119415025 protein_bind: nuclear receptor subfamily 1 group H member 4 0 + 119415011 119415025 192,0,0 protein_binding_site FXRE 109029530|GeneID:109029530,3284|GeneID:3284 19059462|PMID:19059462 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19059462] positive regulation of promoter activity FXRE | positive regulation of promoter activity | nuclear receptor subfamily 1 group H member 4 -chr1 119415011 119415031 protein_bind: nuclear receptor subfamily 4 group A member 1 0 + 119415011 119415031 192,0,0 protein_binding_site NBRE 109029530|GeneID:109029530,3284|GeneID:3284 15498889|PMID:15498889 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15498889] mediates induction of transcription by cyclic AMP NBRE | mediates induction of transcription by cyclic AMP | nuclear receptor subfamily 4 group A member 1 -chr1 119415021 119415051 protein_bind: signal transducer and activator of transcription 5 0 + 119415021 119415051 192,0,0 protein_binding_site Stat5 probe 109029530|GeneID:109029530,3284|GeneID:3284 10406460|PMID:10406460 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10406460] positive regulation of promoter activity Stat5 probe | positive regulation of promoter activity | signal transducer and activator of transcription 5 -chr1 119415080 119415099 protein_bind: nuclear receptor subfamily 5 group A members 1 and 2 0 + 119415080 119415099 192,0,0 protein_binding_site SF-1/Ad4BP site; -60 element 109029530|GeneID:109029530,3284|GeneID:3284 9065466|PMID:9065466,15498889|PMID:15498889 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9065466, PMID:15498889] SF-1/Ad4BP site; -60 element | nuclear receptor subfamily 5 group A members 1 and 2 -chr1 119415257 119415293 protein_bind: YY1 transcription factor 0 + 119415257 119415293 192,0,0 protein_binding_site 3beta2S probe 109029530|GeneID:109029530,3284|GeneID:3284 15291746|PMID:15291746 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15291746] 3beta2S probe | YY1 transcription factor -chr1 119415296 119415325 protein_bind: YY1 transcription factor 0 + 119415296 119415325 192,0,0 protein_binding_site +147 to +175 site 109029530|GeneID:109029530,3284|GeneID:3284 15291746|PMID:15291746 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15291746] +147 to +175 site | YY1 transcription factor -chr1 119504328 119507391 promoter 0 + 119504328 119507391 0,128,128 promoter -2880 to +182 promoter 109029529|GeneID:109029529 15131259|PMID:15131259 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15131259] -2880 to +182 promoter -chr1 119504620 119504692 enhancer 0 + 119504620 119504692 0,128,128 enhancer HSD-En; -2670 to -2518 placental enhancer 109029529|GeneID:109029529 15131259|PMID:15131259 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15131259] enhancer in JEG-3 placental cells HSD-En; -2670 to -2518 placental enhancer | enhancer in JEG-3 placental cells -chr1 119504642 119504662 protein_bind: GATA binding protein 4 0 + 119504642 119504662 192,0,0 protein_binding_site HSD-En 109029529|GeneID:109029529 15131259|PMID:15131259 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15131259] HSD-En | GATA binding protein 4 -chr1 119504642 119504662 protein_bind: TEA domain transcription factor 3 0 + 119504642 119504662 192,0,0 protein_binding_site HSD-En 109029529|GeneID:109029529 15131259|PMID:15131259 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15131259] HSD-En | TEA domain transcription factor 3 -chr1 119506351 119506377 protein_bind: signal transducer and activator of transcription 6 0 + 119506351 119506377 192,0,0 protein_binding_site Stat6 #1 site 109029529|GeneID:109029529 9892013|PMID:9892013 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9892013] Stat6 #1 site | signal transducer and activator of transcription 6 -chr1 119506717 119507391 promoter 0 + 119506717 119507391 0,128,128 promoter -492 to +182 promoter 109029529|GeneID:109029529 8584035|PMID:8584035 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8584035] -492 to +182 promoter -chr1 119507042 119507068 protein_bind: signal transducer and activator of transcription 6 0 + 119507042 119507068 192,0,0 protein_binding_site Stat6 #2 site 109029529|GeneID:109029529 9892013|PMID:9892013 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9892013] Stat6 #2 site | signal transducer and activator of transcription 6 -chr1 119507072 119507093 protein_bind: nuclear receptor subfamily 4 group A members 1 and 2 0 + 119507072 119507093 192,0,0 protein_binding_site NBRE 109029529|GeneID:109029529 25092869|PMID:25092869 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25092869] NBRE | nuclear receptor subfamily 4 group A members 1 and 2 -chr1 119507313 119507337 enhancer 0 + 119507313 119507337 0,128,128 enhancer 3betaI-A element 109029529|GeneID:109029529,3283|GeneID:3283 8584035|PMID:8584035 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8584035] 3betaI-A element -chr1 119507313 119507337 protein_bind: Sp1 transcription factor 0 + 119507313 119507337 192,0,0 protein_binding_site 3betaI-A element 109029529|GeneID:109029529,3283|GeneID:3283 8584035|PMID:8584035 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8584035] 3betaI-A element | Sp1 transcription factor -chr1 119507313 119507337 protein_bind: YY1 transcription factor 0 + 119507313 119507337 192,0,0 protein_binding_site 3betaI-A element 109029529|GeneID:109029529,3283|GeneID:3283 15291746|PMID:15291746 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15291746] 3betaI-A element | YY1 transcription factor -chr1 119507334 119507357 protein_bind: YY1 transcription factor 0 + 119507334 119507357 192,0,0 protein_binding_site +126 to +151 site 109029529|GeneID:109029529,3283|GeneID:3283 15291746|PMID:15291746 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15291746] +126 to +151 site | YY1 transcription factor -chr1 145960449 145960568 enhancer 0 + 145960449 145960568 0,128,128 enhancer 106783502|GeneID:106783502,84265|GeneID:84265 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr1 145979292 145979934 enhancer 0 + 145979292 145979934 0,128,128 enhancer amplified fragment containing most of the chr1:145455122-145455741 (GRCh37) CAGE region 108254679|GeneID:108254679 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr1:145455122-145455741 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa and HepG2 cells -chr1 145979342 145979962 CAGE_cluster 0 + 145979342 145979962 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254679|GeneID:108254679 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1 147748577 147753770 enhancer 0 + 147748577 147753770 0,128,128 enhancer VISTA enhancer hs2126 110121261|GeneID:110121261,102723321|GeneID:102723321 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/6] VISTA enhancer hs2126 | enhancer in: heart[5/6] -chr1 152049545 152050038 CAGE_cluster 0 + 152049545 152050038 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254671|GeneID:108254671 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1 152049599 152050161 enhancer 0 + 152049599 152050161 0,128,128 enhancer amplified fragment containing most of the chr1:152022022-152022514 (GRCh37) CAGE region 108254671|GeneID:108254671 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr1:152022022-152022514 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr1 152906046 152909786 promoter 0 + 152906046 152909786 0,128,128 promoter -2500 to +1240; full proximal regulatory region 107880064|GeneID:107880064 8234288|PMID:8234288 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8234288] drive expression in epitheium of keratinocytes -2500 to +1240; full proximal regulatory region | drive expression in epitheium of keratinocytes -chr1 152906071 152906457 enhancer 0 + 152906071 152906457 0,128,128 enhancer -2473 to -2088; distal regulatory region (DRR) 107880064|GeneID:107880064 9512462|PMID:9512462 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9512462] drives expression in upper granular layers of epidermis, esophagus and cervix -2473 to -2088; distal regulatory region (DRR) | drives expression in upper granular layers of epidermis, esophagus and cervix -chr1 152906071 152906595 enhancer 0 + 152906071 152906595 0,128,128 enhancer HindIII/HaeII fragment 107880064|GeneID:107880064 9804813|PMID:9804813 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9804813] drives expression in epidermis HindIII/HaeII fragment | drives expression in epidermis -chr1 152906071 152907313 enhancer 0 + 152906071 152907313 0,128,128 enhancer HindIII/RsaI fragment 107880064|GeneID:107880064 8550612|PMID:8550612 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8550612] stimulates expression in response to calcium HindIII/RsaI fragment | stimulates expression in response to calcium -chr1 152906405 152906457 enhancer 0 + 152906405 152906457 0,128,128 enhancer -2140 to -2088 107880064|GeneID:107880064 9895295|PMID:9895295 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9895295] promotes expression upon binding by Sp1 -2140 to -2088 | promotes expression upon binding by Sp1 -chr1 152906409 152906513 response_element 0 + 152906409 152906513 0,128,128 regulatory_region -2131 to -2028 107880064|GeneID:107880064 9159190|PMID:9159190 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9159190] mediates induction by calcium -2131 to -2028 | mediates induction by calcium -chr1 152906410 152906450 protein_bind: JunB proto-oncogene, AP-1 transcription factor subunit 0 + 152906410 152906450 192,0,0 protein_binding_site AP1-5 107880064|GeneID:107880064 7759510|PMID:7759510 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510] mediates response to phorbol ester AP1-5 | mediates response to phorbol ester | JunB proto-oncogene, AP-1 transcription factor subunit -chr1 152906417 152906437 protein_bind: FOS like 1, AP-1 trancription factor subunit 0 + 152906417 152906437 192,0,0 protein_binding_site AP1-5 107880064|GeneID:107880064 7759510|PMID:7759510,10816578|PMID:10816578,11254751|PMID:11254751 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510, PMID:10816578, PMID:11254751] mediates response to phorbol ester, oxysterol, calcium, and cholesterol sulfate AP1-5 | mediates response to phorbol ester, oxysterol, calcium, and cholesterol sulfate | FOS like 1, AP-1 trancription factor subunit -chr1 152906417 152906437 protein_bind: FOS like 2, AP-1 trancription factor subunit 0 + 152906417 152906437 192,0,0 protein_binding_site AP1-5 107880064|GeneID:107880064 7759510|PMID:7759510,10816578|PMID:10816578,11254751|PMID:11254751 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510, PMID:10816578, PMID:11254751] mediates response to phorbol ester, oxysterol, calcium, and cholesterol sulfate AP1-5 | mediates response to phorbol ester, oxysterol, calcium, and cholesterol sulfate | FOS like 2, AP-1 trancription factor subunit -chr1 152906417 152906437 protein_bind: FosB proto-oncogene, AP-1 trancription factor subunit 0 + 152906417 152906437 192,0,0 protein_binding_site AP1-5 107880064|GeneID:107880064 15025563|PMID:15025563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15025563] AP1-5 | FosB proto-oncogene, AP-1 trancription factor subunit -chr1 152906417 152906437 protein_bind: JunD proto-oncogene, AP-1 transcription factor subunit 0 + 152906417 152906437 192,0,0 protein_binding_site AP1-5 107880064|GeneID:107880064 7759510|PMID:7759510,10816578|PMID:10816578,11254751|PMID:11254751 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510, PMID:10816578, PMID:11254751] mediates response to phorbol ester, oxysterol, calcium, and cholesterol sulfate AP1-5 | mediates response to phorbol ester, oxysterol, calcium, and cholesterol sulfate | JunD proto-oncogene, AP-1 transcription factor subunit -chr1 152906422 152906442 protein_bind: Sp1 transcription factor 0 + 152906422 152906442 192,0,0 protein_binding_site Sp1 site 107880064|GeneID:107880064 9512462|PMID:9512462,16123409|PMID:16123409 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9512462, PMID:16123409] synergizes with adjacent AP-1 site to promote activity of enhancer Sp1 site | synergizes with adjacent AP-1 site to promote activity of enhancer | Sp1 transcription factor -chr1 152906422 152906442 protein_bind: Sp3 transcription factor 0 + 152906422 152906442 192,0,0 protein_binding_site Sp1 site 107880064|GeneID:107880064 16123409|PMID:16123409 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16123409] Sp1 site | Sp3 transcription factor -chr1 152906435 152906462 response_element 0 + 152906435 152906462 0,128,128 regulatory_region VDRE (vitamin D response element) 107880064|GeneID:107880064 12445200|PMID:12445200 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12445200] mediates response to vitamin D VDRE (vitamin D response element) | mediates response to vitamin D -chr1 152906745 152907228 enhancer 0 + 152906745 152907228 0,128,128 enhancer PstI/AluI fragment 107880064|GeneID:107880064 8798509|PMID:8798509 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8798509] promotes differentiation PstI/AluI fragment | promotes differentiation -chr1 152906852 152906877 protein_bind: transcription factor AP-2 gamma 0 + 152906852 152906877 192,0,0 protein_binding_site -1691 to -1667 probe 107880064|GeneID:107880064 12192491|PMID:12192491 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12192491] -1691 to -1667 probe | transcription factor AP-2 gamma -chr1 152907646 152908586 promoter 0 + 152907646 152908586 0,128,128 promoter -900 to +40 107880064|GeneID:107880064 1487505|PMID:1487505 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1487505] -900 to +40 -chr1 152907663 152907673 protein_bind: signal transducer and activator of transcription 1 0 + 152907663 152907673 192,0,0 protein_binding_site G1 (-883 to -874) 107880064|GeneID:107880064 10585866|PMID:10585866 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10585866] mediates activation by interferon gamma G1 (-883 to -874) | mediates activation by interferon gamma | signal transducer and activator of transcription 1 -chr1 152907895 152908392 transcriptional_cis_regulatory_region 0 + 152907895 152908392 0,128,128 region PstI/AvaI fragment; negative regulation of gene expression 107880064|GeneID:107880064 8550612|PMID:8550612 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8550612] PstI/AvaI fragment; negative regulation of gene expression -chr1 152907996 152908013 protein_bind: TEA domain transcription factor 1 0 + 152907996 152908013 192,0,0 protein_binding_site T1 107880064|GeneID:107880064 8554386|PMID:8554386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8554386] negative regulation of transcription T1 | negative regulation of transcription | TEA domain transcription factor 1 -chr1 152908013 152908029 protein_bind: TEA domain transcription factor 1 0 + 152908013 152908029 192,0,0 protein_binding_site T2 107880064|GeneID:107880064 8554386|PMID:8554386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8554386] negative regulation of transcription T2 | negative regulation of transcription | TEA domain transcription factor 1 -chr1 152908068 152908092 protein_bind: PC4 and SFRS1 interacting protein 1 0 + 152908068 152908092 192,0,0 protein_binding_site -454 to -477 probe 107880064|GeneID:107880064 12126624|PMID:12126624 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12126624] promotes gene expression in HCK cells -454 to -477 probe | promotes gene expression in HCK cells | PC4 and SFRS1 interacting protein 1 -chr1 152908116 152908136 protein_bind: TEA domain transcription factor 1 0 + 152908116 152908136 192,0,0 protein_binding_site T3 107880064|GeneID:107880064 8554386|PMID:8554386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8554386] T3 | TEA domain transcription factor 1 -chr1 152908160 152908213 silencer 0 + 152908160 152908213 0,128,128 silencer -386 to -335 107880064|GeneID:107880064 15120610|PMID:15120610 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15120610] -386 to -335 -chr1 152908173 152908213 protein_bind: POU class 2 homeobox 2 0 + 152908173 152908213 192,0,0 protein_binding_site OL40 107880064|GeneID:107880064 15120610|PMID:15120610 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15120610] suppresses gene expression OL40 | suppresses gene expression | POU class 2 homeobox 2 -chr1 152908279 152908312 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 152908279 152908312 192,0,0 protein_binding_site H2 footprint 107880064|GeneID:107880064 8550612|PMID:8550612 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8550612] H2 footprint | Jun proto-oncogene, AP-1 transcription factor subunit -chr1 152908305 152908540 promoter 0 + 152908305 152908540 0,128,128 promoter -241 to -7; proximal promoter region (PRR) 107880064|GeneID:107880064 7759510|PMID:7759510 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7759510] -241 to -7; proximal promoter region (PRR) -chr1 152908397 152908419 protein_bind: CCAAT/enhancer binding protein alpha 0 + 152908397 152908419 192,0,0 protein_binding_site C/EBP site 107880064|GeneID:107880064 10037704|PMID:10037704,10970794|PMID:10970794,15044435|PMID:15044435 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10037704, PMID:10970794, PMID:15044435] mediates response to phorbol ester, thapsigargin, green tea polyphenol, curcumin C/EBP site | mediates response to phorbol ester, thapsigargin, green tea polyphenol, curcumin | CCAAT/enhancer binding protein alpha -chr1 152908415 152908436 protein_bind: FOS like 2, AP-1 trancription factor subunit 0 + 152908415 152908436 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 15037572|PMID:15037572 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15037572] mediates response to phorbol ester AP1-1 | mediates response to phorbol ester | FOS like 2, AP-1 trancription factor subunit -chr1 152908415 152908436 protein_bind: JunB proto-oncogene, AP-1 transcription factor subunit 0 + 152908415 152908436 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 7759510|PMID:7759510,15037572|PMID:15037572,20006635|PMID:20006635 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510, PMID:15037572, PMID:20006635] mediates response to phorbol ester, arsenite AP1-1 | mediates response to phorbol ester, arsenite | JunB proto-oncogene, AP-1 transcription factor subunit -chr1 152908416 152908438 protein_bind: Fos proto-oncogene, AP-1 trancription factor subunit 0 + 152908416 152908438 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 9506439|PMID:9506439 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9506439] mediates response to protein kinase C AP1-1 | mediates response to protein kinase C | Fos proto-oncogene, AP-1 trancription factor subunit -chr1 152908416 152908438 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 152908416 152908438 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 9506439|PMID:9506439 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9506439] mediates response to protein kinase C AP1-1 | mediates response to protein kinase C | Jun proto-oncogene, AP-1 transcription factor subunit -chr1 152908417 152908436 protein_bind: FOS like 1, AP-1 trancription factor subunit 0 + 152908417 152908436 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 7759510|PMID:7759510,11698415|PMID:11698415,15037572|PMID:15037572,20006635|PMID:20006635 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510, PMID:11698415, PMID:15037572, PMID:20006635] mediates response to phorbol ester, green tea polyphenol, arsenite AP1-1 | mediates response to phorbol ester, green tea polyphenol, arsenite | FOS like 1, AP-1 trancription factor subunit -chr1 152908417 152908436 protein_bind: FosB proto-oncogene, AP-1 trancription factor subunit 0 + 152908417 152908436 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 15025563|PMID:15025563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15025563] AP1-1 | FosB proto-oncogene, AP-1 trancription factor subunit -chr1 152908417 152908436 protein_bind: JunD proto-oncogene, AP-1 transcription factor subunit 0 + 152908417 152908436 192,0,0 protein_binding_site AP1-1 107880064|GeneID:107880064 7759510|PMID:7759510,11698415|PMID:11698415 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7759510, PMID:11698415] mediates response to phorbol ester and green tea polyphenol AP1-1 | mediates response to phorbol ester and green tea polyphenol | JunD proto-oncogene, AP-1 transcription factor subunit -chr1 152908585 152909786 silencer 0 + 152908585 152909786 0,128,128 silencer +40 to +1240 107880064|GeneID:107880064,3713|GeneID:3713 1487505|PMID:1487505,10816578|PMID:10816578 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1487505, PMID:10816578] may downregulate expression in MCF-7 and keratinocytes on heterologous promoter and may regulate native promoter +40 to +1240 | may downregulate expression in MCF-7 and keratinocytes on heterologous promoter and may regulate native promoter -chr1 155213011 155215463 non_allelic_homologous 0 + 155213011 155215463 160,82,45 recombination_feature sub-region e', recombines with sub-region e within the GBA recombination region 106627982|GeneID:106627982 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region e', recombines with sub-region e within the GBA recombination region -chr1 155216649 155216665 non_allelic_homologous 0 + 155216649 155216665 160,82,45 recombination_feature sub-region d', recombines with sub-region d within the GBA recombination region 106627982|GeneID:106627982 11042032|PMID:11042032 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11042032] sub-region d', recombines with sub-region d within the GBA recombination region -chr1 155217477 155217578 non_allelic_homologous 0 + 155217477 155217578 160,82,45 recombination_feature sub-region c', recombines with sub-region c within the GBA recombination region 106627982|GeneID:106627982 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region c', recombines with sub-region c within the GBA recombination region -chr1 155217882 155217908 non_allelic_homologous 0 + 155217882 155217908 160,82,45 recombination_feature sub-region b', recombines with sub-region b within the GBA recombination region 106627982|GeneID:106627982 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region b', recombines with sub-region b within the GBA recombination region -chr1 155218147 155218165 non_allelic_homologous 0 + 155218147 155218165 160,82,45 recombination_feature sub-region a', recombines with sub-region a within the GBA recombination region 106627982|GeneID:106627982 11112377|PMID:11112377 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11112377] sub-region a', recombines with sub-region a within the GBA recombination region -chr1 155233638 155236144 non_allelic_homologous 0 + 155233638 155236144 160,82,45 recombination_feature sub-region e, recombines with sub-region e' within the GBAP1 recombination region 106627981|GeneID:106627981 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region e, recombines with sub-region e' within the GBAP1 recombination region -chr1 155237606 155237941 non_allelic_homologous 0 + 155237606 155237941 160,82,45 recombination_feature sub-region d, recombines with sub-region d' within the GBAP1 recombination region 106627981|GeneID:106627981 11042032|PMID:11042032 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11042032] sub-region d, recombines with sub-region d' within the GBAP1 recombination region -chr1 155238754 155238855 non_allelic_homologous 0 + 155238754 155238855 160,82,45 recombination_feature sub-region c, recombines with sub-region c' within the GBAP1 recombination region 106627981|GeneID:106627981 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region c, recombines with sub-region c' within the GBAP1 recombination region -chr1 155239804 155239830 non_allelic_homologous 0 + 155239804 155239830 160,82,45 recombination_feature sub-region b, recombines with sub-region b' within the GBAP1 recombination region 106627981|GeneID:106627981 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region b, recombines with sub-region b' within the GBAP1 recombination region -chr1 155240074 155240092 non_allelic_homologous 0 + 155240074 155240092 160,82,45 recombination_feature sub-region a, recombines with sub-region a' within the GBAP1 recombination region 106627981|GeneID:106627981 11112377|PMID:11112377 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11112377] sub-region a, recombines with sub-region a' within the GBAP1 recombination region -chr1 156102511 156107058 enhancer 0 + 156102511 156107058 0,128,128 enhancer VISTA enhancer hs2129 110121262|GeneID:110121262,4000|GeneID:4000 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[14/17] VISTA enhancer hs2129 | enhancer in: heart[14/17] -chr1 156240843 156242193 promoter 0 + 156240843 156242193 0,128,128 promoter -1339 to +10 promoter; BamHI/PvuII fragment 110013312|GeneID:110013312,100527963|GeneID:100527963 2786632|PMID:2786632 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2786632] vitamin D-responsive promoter -1339 to +10 promoter; BamHI/PvuII fragment | vitamin D-responsive promoter -chr1 156241547 156241577 transcriptional_cis_regulatory_region 0 + 156241547 156241577 0,128,128 region OSCARE-1; -634 to -605 110013312|GeneID:110013312,100527963|GeneID:100527963 7598807|PMID:7598807 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7598807] contributes to basal promoter activity OSCARE-1; -634 to -605 | contributes to basal promoter activity -chr1 156241615 156241776 enhancer 0 + 156241615 156241776 0,128,128 enhancer -568 to -407; BspEI/PvuII fragment 110013312|GeneID:110013312,100527963|GeneID:100527963 2786632|PMID:2786632 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2786632] vitamin D-inducible enhancer -568 to -407; BspEI/PvuII fragment | vitamin D-inducible enhancer -chr1 156241644 156241679 protein_bind: nuclear factor kappa B subunit 1 0 + 156241644 156241679 192,0,0 protein_binding_site TNFRE (tumor necrosis factor-responsive element) 110013312|GeneID:110013312,100527963|GeneID:100527963 8388544|PMID:8388544 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8388544] mediates negative regulation by tumor necrosis factor TNFRE (tumor necrosis factor-responsive element) | mediates negative regulation by tumor necrosis factor | nuclear factor kappa B subunit 1 -chr1 156241671 156241701 protein_bind: vitamin D (1,25- dihydroxyvitamin D3) receptor 0 + 156241671 156241701 192,0,0 protein_binding_site VDRE (vitamin D response element) 110013312|GeneID:110013312,100527963|GeneID:100527963 2174889|PMID:2174889 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2174889] stimulates promoter activity; methylation-sensitive VDRE (vitamin D response element) | stimulates promoter activity; methylation-sensitive | vitamin D (1,25- dihydroxyvitamin D3) receptor -chr1 156241672 156241691 protein_bind: JunD and FOS like 2 proto-oncogenes, AP-1 transcription factor subunits 0 + 156241672 156241691 192,0,0 protein_binding_site AP-1/VDRE 110013312|GeneID:110013312,100527963|GeneID:100527963 11684680|PMID:11684680 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11684680] AP-1/VDRE | JunD and FOS like 2 proto-oncogenes, AP-1 transcription factor subunits -chr1 156241673 156241695 protein_bind: Jun and Fos proto-oncogenes, AP-1 transcription factor subunits 0 + 156241673 156241695 192,0,0 protein_binding_site HRE (hormone response element) 110013312|GeneID:110013312,100527963|GeneID:100527963 2159384|PMID:2159384 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2159384] negative regulation of promoter activity HRE (hormone response element) | negative regulation of promoter activity | Jun and Fos proto-oncogenes, AP-1 transcription factor subunits -chr1 156241673 156241695 protein_bind: retinoic acid receptor alpha 0 + 156241673 156241695 192,0,0 protein_binding_site HRE (hormone response element) 110013312|GeneID:110013312,100527963|GeneID:100527963 2159384|PMID:2159384 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2159384] positive regulation of promoter activity HRE (hormone response element) | positive regulation of promoter activity | retinoic acid receptor alpha -chr1 156241674 156241695 response_element 0 + 156241674 156241695 0,128,128 regulatory_region VDRE (vitamin D response element); -509 to -489; also corresponds to HRE 110013312|GeneID:110013312,100527963|GeneID:100527963 2159384|PMID:2159384,2588000|PMID:2588000,2786632|PMID:2786632 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2786632, PMID:2159384, PMID:2588000] confers responsiveness to vitamin D, vitamin A, and AP-1 family factors when multimerized VDRE (vitamin D response element); -509 to -489; also corresponds to HRE | confers responsiveness to vitamin D, vitamin A, and AP-1 family factors when multimerized -chr1 156241958 156242021 protein_bind: Jun and Fos proto-oncogenes, AP-1 transcription factor subunits 0 + 156241958 156242021 192,0,0 protein_binding_site OSCARE-2; -226 to -163 110013312|GeneID:110013312,100527963|GeneID:100527963 8707885|PMID:8707885 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8707885] OSCARE-2; -226 to -163 | Jun and Fos proto-oncogenes, AP-1 transcription factor subunits -chr1 156241960 156241966 protein_bind: transcriptional repressor GATA binding 1 0 + 156241960 156241966 192,0,0 protein_binding_site GATA site 110013312|GeneID:110013312,100527963|GeneID:100527963 19759027|PMID:19759027 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19759027] GATA site | transcriptional repressor GATA binding 1 -chr1 156241985 156242015 transcriptional_cis_regulatory_region 0 + 156241985 156242015 0,128,128 region ORE-1 110013312|GeneID:110013312,632|GeneID:632 7593272|PMID:7593272 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7593272] contributes to repression of promoter activity in NIH3T3 cells ORE-1 | contributes to repression of promoter activity in NIH3T3 cells -chr1 156241990 156242193 promoter 0 + 156241990 156242193 0,128,128 promoter -193 to +10; ApaI/PvuII fragment 110013312|GeneID:110013312,632|GeneID:632 2786632|PMID:2786632 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2786632] -193 to +10; ApaI/PvuII fragment -chr1 156242013 156242032 protein_bind: runt related transcription factor 2 0 + 156242013 156242032 192,0,0 protein_binding_site OSE2 110013312|GeneID:110013312,632|GeneID:632 11684680|PMID:11684680 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11684680] positive regulation of promoter activity OSE2 | positive regulation of promoter activity | runt related transcription factor 2 -chr1 156242115 156242144 protein_bind: Sp1, Sp2, Sp3 transcription factors 0 + 156242115 156242144 192,0,0 protein_binding_site OSE1 110013312|GeneID:110013312,632|GeneID:632 11684680|PMID:11684680 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11684680] positive regulation of promoter activity OSE1 | positive regulation of promoter activity | Sp1, Sp2, Sp3 transcription factors -chr1 156242144 156242177 protein_bind: TATA-box binding protein 0 + 156242144 156242177 192,0,0 protein_binding_site GRE; -41 to -9 110013312|GeneID:110013312,632|GeneID:632 9303434|PMID:9303434 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9303434] GRE; -41 to -9 | TATA-box binding protein -chr1 156242150 156242172 protein_bind: nuclear receptor subfamily 3 group C member 1 0 + 156242150 156242172 192,0,0 protein_binding_site GR binding site 110013312|GeneID:110013312,632|GeneID:632 2038339|PMID:2038339 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2038339] negative regulation of promoter activity; competes for binding with TATA-box binding protein GR binding site | negative regulation of promoter activity; competes for binding with TATA-box binding protein | nuclear receptor subfamily 3 group C member 1 -chr1 156242155 156242161 TATA_box 0 + 156242155 156242161 0,128,128 TATA_box 110013312|GeneID:110013312,632|GeneID:632 2588000|PMID:2588000 COORDINATES:motif similarity evidence [ECO:0000028][PMID:2588000] TATA_box -chr1 156242259 156242266 transcriptional_cis_regulatory_region 0 + 156242259 156242266 0,128,128 region OSE (osteocalcin silencer element); +29 to +35 110013312|GeneID:110013312,632|GeneID:632 8559666|PMID:8559666 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:8559666] negative regulation of transcription OSE (osteocalcin silencer element); +29 to +35 | negative regulation of transcription -chr1 156660456 156665492 enhancer 0 + 156660456 156665492 0,128,128 enhancer VISTA enhancer hs1891 110121221|GeneID:110121221 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[7/7] | midbrain (mesencephalon)[6/7] | limb[7/7] | branchial arch[7/7] | eye[7/7] | heart[7/7] | ear[7/7] | blood vessels[6/7] VISTA enhancer hs1891 | enhancer in: somite[7/7] | midbrain (mesencephalon)[6/7] | limb[7/7] | branchial arch[7/7] | eye[7/7] | heart[7/7] | ear[7/7] | blood vessels[6/7] -chr1 163085281 163085975 enhancer 0 + 163085281 163085975 0,128,128 enhancer amplified fragment containing the chr1:163055304-163055539 (GRCh37) region with regulatory potential 108281190|GeneID:108281190 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr1:163055304-163055539 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr1 163085513 163085749 epigenetically_modified_region 0 + 163085513 163085749 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108281190|GeneID:108281190 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr1 163472150 163473052 enhancer 0 + 163472150 163473052 0,128,128 enhancer VISTA enhancer hs762 110120762|GeneID:110120762 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[5/7] VISTA enhancer hs762 | enhancer in: hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[5/7] -chr1 163538174 163539349 enhancer 0 + 163538174 163539349 0,128,128 enhancer VISTA enhancer hs1185 110121019|GeneID:110121019 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/6] VISTA enhancer hs1185 | enhancer in: limb[4/6] -chr1 164634903 164636237 enhancer 0 + 164634903 164636237 0,128,128 enhancer VISTA enhancer hs1202 110121025|GeneID:110121025,5087|GeneID:5087 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/6] | forebrain[4/6] VISTA enhancer hs1202 | enhancer in: hindbrain (rhombencephalon)[6/6] | forebrain[4/6] -chr1 164650800 164651927 enhancer 0 + 164650800 164651927 0,128,128 enhancer VISTA enhancer hs1235 110121037|GeneID:110121037,5087|GeneID:5087 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] VISTA enhancer hs1235 | enhancer in: hindbrain (rhombencephalon)[6/8] -chr1 164699354 164700586 enhancer 0 + 164699354 164700586 0,128,128 enhancer VISTA enhancer hs1144 110121004|GeneID:110121004,5087|GeneID:5087 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/12] VISTA enhancer hs1144 | enhancer in: heart[5/12] -chr1 164748260 164748780 enhancer 0 + 164748260 164748780 0,128,128 enhancer amplified fragment containing the chr1:164717528-164717907 (GRCh37) CAGE region 108251792|GeneID:108251792,5087|GeneID:5087 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr1:164717528-164717907 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr1 164748290 164748670 CAGE_cluster 0 + 164748290 164748670 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251792|GeneID:108251792,5087|GeneID:5087 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1 164836269 164837557 enhancer 0 + 164836269 164837557 0,128,128 enhancer VISTA enhancer hs1191 110121021|GeneID:110121021,5087|GeneID:5087 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/7] | facial mesenchyme[3/7] VISTA enhancer hs1191 | enhancer in: forebrain[4/7] | facial mesenchyme[3/7] -chr1 167327716 167329809 enhancer 0 + 167327716 167329809 0,128,128 enhancer VISTA enhancer hs1331 110121063|GeneID:110121063,5451|GeneID:5451 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] | hindbrain (rhombencephalon)[4/7] | midbrain (mesencephalon)[5/7] | forebrain[7/7] VISTA enhancer hs1331 | enhancer in: neural tube[4/7] | hindbrain (rhombencephalon)[4/7] | midbrain (mesencephalon)[5/7] | forebrain[7/7] -chr1 169941254 169943938 enhancer 0 + 169941254 169943938 0,128,128 enhancer VISTA enhancer hs1442 110121105|GeneID:110121105 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/11] | genital tubercle[9/11] VISTA enhancer hs1442 | enhancer in: limb[10/11] | genital tubercle[9/11] -chr1 181151912 181154518 enhancer 0 + 181151912 181154518 0,128,128 enhancer VISTA enhancer hs1862 110121215|GeneID:110121215 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/6] VISTA enhancer hs1862 | enhancer in: heart[6/6] -chr1 183611756 183612264 enhancer 0 + 183611756 183612264 0,128,128 enhancer amplified fragment containing the chr1:183581059-183581217 (GRCh37) region with regulatory potential 108318669|GeneID:108318669 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr1:183581059-183581217 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr1 183611923 183612082 epigenetically_modified_region 0 + 183611923 183612082 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108318669|GeneID:108318669 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr1 188668051 188668618 DNase_I_hypersensitive_site 0 + 188668051 188668618 0,128,128 region region containing the chr1.11400 DHS; the nucleotide coordinates are approximate for this feature 108281185|GeneID:108281185 22955617|PMID:22955617 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:22955617] region containing the chr1.11400 DHS; the nucleotide coordinates are approximate for this feature -chr1 188668051 188668618 enhancer 0 + 188668051 188668618 0,128,128 enhancer amplified fragment containing the chr1.11400 DHS 108281185|GeneID:108281185 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr1.11400 DHS | nontranscribed enhancer in HeLa cells -chr1 198294431 198296612 enhancer 0 + 198294431 198296612 0,128,128 enhancer VISTA enhancer hs1322 110121056|GeneID:110121056,140609|GeneID:140609 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/9] | midbrain (mesencephalon)[6/9] | dorsal root ganglion[6/9] | forebrain[5/9] | branchial arch[5/9] VISTA enhancer hs1322 | enhancer in: hindbrain (rhombencephalon)[9/9] | midbrain (mesencephalon)[6/9] | dorsal root ganglion[6/9] | forebrain[5/9] | branchial arch[5/9] -chr1 198681669 198682240 enhancer 0 + 198681669 198682240 0,128,128 enhancer amplified fragment containing most of the chr1:198650930-198651643 (GRCh37) CAGE region 108281163|GeneID:108281163,5788|GeneID:5788 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr1:198650930-198651643 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr1 198681800 198682514 CAGE_cluster 0 + 198681800 198682514 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281163|GeneID:108281163,5788|GeneID:5788 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1 200072515 200073089 enhancer 0 + 200072515 200073089 0,128,128 enhancer heart enhancer 1 107988045|GeneID:107988045,2494|GeneID:2494 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 1 | enhancer in heart -chr1 204162165 204166193 silencer 0 + 204162165 204166193 0,128,128 silencer intron A 107548112|GeneID:107548112 8760248|PMID:8760248,9166895|PMID:9166895,10419062|PMID:10419062 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8760248, PMID:9166895, PMID:10419062] negative regulator of gene expression intron A | negative regulator of gene expression -chr1 204162633 204162713 protein_bind: CCCTC-binding factor 0 + 204162633 204162713 192,0,0 protein_binding_site site 1 107548112|GeneID:107548112 18632798|PMID:18632798 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18632798] site 1 | CCCTC-binding factor -chr1 204166321 204178479 promoter 0 + 204166321 204178479 0,128,128 promoter 12 kb region for complete renin regulatory region; -12166 to +16 107548112|GeneID:107548112 12163396|PMID:12163396 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:12163396] promotes expression in kidney and renin-expressing cells 12 kb region for complete renin regulatory region; -12166 to +16 | promotes expression in kidney and renin-expressing cells -chr1 204166333 204166485 promoter 0 + 204166333 204166485 0,128,128 promoter -148 to +4 promoter 107548112|GeneID:107548112 8420924|PMID:8420924 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8420924] active promoter in multiple renin-expressing cell lines; drives expression of transgene in juxtaglomerular cells of kidney, lung, and adipose tissue -148 to +4 promoter | active promoter in multiple renin-expressing cell lines; drives expression of transgene in juxtaglomerular cells of kidney, lung, and adipose tissue -chr1 204166335 204166371 protein_bind: ETS proto-oncogene 1, transcription factor 0 + 204166335 204166371 192,0,0 protein_binding_site Ets-REN; includes footprint A 107548112|GeneID:107548112 8914017|PMID:8914017,15368359|PMID:15368359 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8914017, PMID:15368359] Ets-REN; includes footprint A | ETS proto-oncogene 1, transcription factor -chr1 204166396 204166419 transcriptional_cis_regulatory_region 0 + 204166396 204166419 0,128,128 region RP-2, also called PPE (proximal promoter element); -78 to -60 107548112|GeneID:107548112 8420924|PMID:8420924,8645191|PMID:8645191 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8420924, PMID:8645191] mediates activation by POU class 1 homeobox 1 RP-2, also called PPE (proximal promoter element); -78 to -60 | mediates activation by POU class 1 homeobox 1 -chr1 204166403 204166711 transcriptional_cis_regulatory_region 0 + 204166403 204166711 0,128,128 region -367 to -67 107548112|GeneID:107548112 8156625|PMID:8156625 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8156625] contain multiple negative regulators of expression in chorionic cells -367 to -67 | contain multiple negative regulators of expression in chorionic cells -chr1 204166444 204166478 protein_bind: nuclear receptor subfamily 1 group H member 3 0 + 204166444 204166478 192,0,0 protein_binding_site huREN/CNRE 107548112|GeneID:107548112 15353176|PMID:15353176 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15353176] mediates response to cyclic AMP huREN/CNRE | mediates response to cyclic AMP | nuclear receptor subfamily 1 group H member 3 -chr1 204166472 204166486 protein_bind: peroxisome proliferator activated receptor gamma 0 + 204166472 204166486 192,0,0 protein_binding_site Pal3 107548112|GeneID:107548112 18483152|PMID:18483152 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18483152] promotes gene expression Pal3 | promotes gene expression | peroxisome proliferator activated receptor gamma -chr1 204166472 204166486 protein_bind: retinoid X receptor alpha 0 + 204166472 204166486 192,0,0 protein_binding_site Pal3 107548112|GeneID:107548112 18483152|PMID:18483152 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18483152] Pal3 | retinoid X receptor alpha -chr1 204166485 204166920 promoter 0 + 204166485 204166920 0,128,128 promoter -583 to -149; contains positive and negative regulatory elements 107548112|GeneID:107548112 2540188|PMID:2540188 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2540188] strong promoter in JEG-3 cells -583 to -149; contains positive and negative regulatory elements | strong promoter in JEG-3 cells -chr1 204166535 204166571 protein_bind: activating transcription factor 1 0 + 204166535 204166571 192,0,0 protein_binding_site CRE_REN or hRENCRE or proxCRE; contains footprint D 107548112|GeneID:107548112 8999953|PMID:8999953 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8999953] CRE_REN or hRENCRE or proxCRE; contains footprint D | activating transcription factor 1 -chr1 204166535 204166571 protein_bind: cAMP responsive element binding protein 1 0 + 204166535 204166571 192,0,0 protein_binding_site CRE_REN or hRENCRE or proxCRE; contains footprint D 107548112|GeneID:107548112 8645191|PMID:8645191,8999953|PMID:8999953 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8645191, PMID:8999953] mediates response to cyclic AMP CRE_REN or hRENCRE or proxCRE; contains footprint D | mediates response to cyclic AMP | cAMP responsive element binding protein 1 -chr1 204166565 204166601 protein_bind: nuclear receptor subfamily 2, group F, member 2 0 + 204166565 204166601 192,0,0 protein_binding_site ARP-1-REN or COUP-TFII-REN; includes footpring E 107548112|GeneID:107548112 8914017|PMID:8914017,15368359|PMID:15368359,17455195|PMID:17455195 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8914017, PMID:15368359, PMID:17455195] ARP-1-REN or COUP-TFII-REN; includes footpring E | nuclear receptor subfamily 2, group F, member 2 -chr1 204166580 204166596 transcriptional_cis_regulatory_region 0 + 204166580 204166596 0,128,128 region -259 to -245; direct repeat (DR) 107548112|GeneID:107548112 17455195|PMID:17455195 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17455195] negative regulation of transcription -259 to -245; direct repeat (DR) | negative regulation of transcription -chr1 204167382 204167403 response_element 0 + 204167382 204167403 0,128,128 regulatory_region THRE (thyroid hormone response element); -1066 to -1046 107548112|GeneID:107548112 11208763|PMID:11208763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11208763] mediates response to thyroid hormone THRE (thyroid hormone response element); -1066 to -1046 | mediates response to thyroid hormone -chr1 204168089 204168144 response_element 0 + 204168089 204168144 0,128,128 regulatory_region nCARE (negative calcium response element) 107548112|GeneID:107548112 12569263|PMID:12569263 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12569263] mediates negative regulation by calcium nCARE (negative calcium response element) | mediates negative regulation by calcium -chr1 204168107 204168131 protein_bind: apurinic/apyrimidinic endodeoxyribonuclease 1 0 + 204168107 204168131 192,0,0 protein_binding_site nCARE 107548112|GeneID:107548112 12569263|PMID:12569263 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12569263] nCARE | apurinic/apyrimidinic endodeoxyribonuclease 1 -chr1 204169156 204170255 transcriptional_cis_regulatory_region 0 + 204169156 204170255 0,128,128 region NRR (negative regulatory region); -3916 to -2822 107548112|GeneID:107548112 9853270|PMID:9853270 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9853270] important for negative regulation by tumor necrosis factor alpha NRR (negative regulatory region); -3916 to -2822 | important for negative regulation by tumor necrosis factor alpha -chr1 204171622 204172214 enhancer 0 + 204171622 204172214 0,128,128 enhancer -5870 to -5279; includes polymporphic C/T site (rs12750834); T variant has increased activity 107548112|GeneID:107548112 12473863|PMID:12473863 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12473863] -5870 to -5279; includes polymporphic C/T site (rs12750834); T variant has increased activity -chr1 204171895 204172121 enhancer 0 + 204171895 204172121 0,128,128 enhancer CE (chorionic enhancer); -5777 to -5552 107548112|GeneID:107548112 9737995|PMID:9737995 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9737995] CE (chorionic enhancer); -5777 to -5552 -chr1 204171961 204172000 transcriptional_cis_regulatory_region 0 + 204171961 204172000 0,128,128 region footprint C 107548112|GeneID:107548112 9737995|PMID:9737995 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9737995] important for enhancer activity footprint C | important for enhancer activity -chr1 204177346 204177565 conserved_region 0 + 204177346 204177565 192,0,192 sequence_feature conserved_region; HEMM; 77% identity to mouse 107548112|GeneID:107548112 9314837|PMID:9314837 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:9314837] conserved_region; HEMM; 77% identity to mouse -chr1 204177351 204177371 response_element 0 + 204177351 204177371 0,128,128 regulatory_region HRE (hormone response element) 107548112|GeneID:107548112 17785633|PMID:17785633,18483152|PMID:18483152 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17785633, PMID:18483152] may contribute to induction of expression by peroxisome proliferator activated receptor gamma HRE (hormone response element) | may contribute to induction of expression by peroxisome proliferator activated receptor gamma -chr1 204177353 204177565 enhancer 0 + 204177353 204177565 0,128,128 enhancer h202E or KE (kidney enhancer) 107548112|GeneID:107548112 16990260|PMID:16990260 EXISTENCE:knockout evidence [ECO:0001091][PMID:16990260] required for full transcript levels in transgenic model h202E or KE (kidney enhancer) | required for full transcript levels in transgenic model -chr1 204177354 204177355 sequence_comparison 0 + 204177354 204177355 192,0,192 sequence_feature sequence_comparison; C in human genome results in decreased activity relative to T in mouse genome 107548112|GeneID:107548112 10488050|PMID:10488050 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:10488050] sequence_comparison; C in human genome results in decreased activity relative to T in mouse genome -chr1 204177387 204177395 response_element 0 + 204177387 204177395 0,128,128 regulatory_region enhCRE 107548112|GeneID:107548112 21424707|PMID:21424707 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21424707] mediates response to cyclic AMP and response to beta-adrenoreceptors and low salt diet enhCRE | mediates response to cyclic AMP and response to beta-adrenoreceptors and low salt diet -chr1 204177458 204177479 protein_bind: Wilms tumor 1 -KTS isoform 0 + 204177458 204177479 192,0,0 protein_binding_site WT1ir 107548112|GeneID:107548112 18496514|PMID:18496514 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18496514] negative regulation of enhancer activity WT1ir | negative regulation of enhancer activity | Wilms tumor 1 -KTS isoform -chr1 204454829 204455807 enhancer 0 + 204454829 204455807 0,128,128 enhancer VISTA enhancer hs1368 110121081|GeneID:110121081 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/10] | hindbrain (rhombencephalon)[6/10] | midbrain (mesencephalon)[6/10] | forebrain[6/10] VISTA enhancer hs1368 | enhancer in: neural tube[6/10] | hindbrain (rhombencephalon)[6/10] | midbrain (mesencephalon)[6/10] | forebrain[6/10] -chr1 209815704 209816479 enhancer 0 + 209815704 209816479 0,128,128 enhancer VISTA enhancer hs932 110120807|GeneID:110120807 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[9/9] | branchial arch[9/9] | eye[6/9] | nose[7/9] VISTA enhancer hs932 | enhancer in: limb[9/9] | branchial arch[9/9] | eye[6/9] | nose[7/9] -chr1 212531403 212533951 enhancer 0 + 212531403 212533951 0,128,128 enhancer VISTA enhancer hs2089 110121257|GeneID:110121257 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/10] VISTA enhancer hs2089 | enhancer in: neural tube[4/10] -chr1 213324768 213327791 enhancer 0 + 213324768 213327791 0,128,128 enhancer VISTA enhancer hs1324 110121057|GeneID:110121057,26750|GeneID:26750 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs1324 | enhancer in: forebrain[6/6] -chr1 213424620 213426181 enhancer 0 + 213424620 213426181 0,128,128 enhancer VISTA enhancer hs204 110120610|GeneID:110120610,105372912|GeneID:105372912 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs204 | enhancer in: forebrain[4/5] -chr1 214107251 214108737 enhancer 0 + 214107251 214108737 0,128,128 enhancer VISTA enhancer hs2357 110121306|GeneID:110121306 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/11] VISTA enhancer hs2357 | enhancer in: heart[8/11] -chr1 218034089 218035156 enhancer 0 + 218034089 218035156 0,128,128 enhancer VISTA enhancer hs1257 110121042|GeneID:110121042 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] | trigeminal V (ganglion, cranial)[3/6] VISTA enhancer hs1257 | enhancer in: hindbrain (rhombencephalon)[5/6] | trigeminal V (ganglion, cranial)[3/6] -chr1 221973077 221973528 retrotransposon:LTR7 0 + 221973077 221973528 0,0,192 mobile_genetic_element direction; reverse 107325941|GeneID:107325941 20951845|PMID:20951845 suggested as a possible recombination region in PMID:20951845 direction; reverse | suggested as a possible recombination region in PMID:20951845 -chr1 221975431 221978506 retrotransposon:HERV-int 0 + 221975431 221978506 0,0,192 mobile_genetic_element direction; reverse 107325941|GeneID:107325941 direction; reverse -chr1 221977063 221977223 non_allelic_homologous 0 + 221977063 221977223 160,82,45 recombination_feature sub-region 1, recombines with sub-region 1' within the 1q41-q42 HERV-mediated distal recombination region 107325941|GeneID:107325941 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] sub-region 1, recombines with sub-region 1' within the 1q41-q42 HERV-mediated distal recombination region -chr1 221977225 221977278 non_allelic_homologous 0 + 221977225 221977278 160,82,45 recombination_feature sub-region 2, recombines with sub-region 2' within the 1q41-q42 HERV-mediated distal recombination region 107325941|GeneID:107325941 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] sub-region 2, recombines with sub-region 2' within the 1q41-q42 HERV-mediated distal recombination region -chr1 223026735 223029699 retrotransposon:HERV-int 0 + 223026735 223029699 0,0,192 mobile_genetic_element direction; reverse 107325942|GeneID:107325942 direction; reverse -chr1 223028361 223028521 non_allelic_homologous 0 + 223028361 223028521 160,82,45 recombination_feature sub-region 1', recombines with sub-region 1 within the 1q41 HERV-mediated proximal recombination region 107325942|GeneID:107325942 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] sub-region 1', recombines with sub-region 1 within the 1q41 HERV-mediated proximal recombination region -chr1 223028523 223028576 non_allelic_homologous 0 + 223028523 223028576 160,82,45 recombination_feature sub-region 2', recombines with sub-region 2 within the 1q41 HERV-mediated proximal recombination region 107325942|GeneID:107325942 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] sub-region 2', recombines with sub-region 2 within the 1q41 HERV-mediated proximal recombination region -chr1 223029701 223030156 retrotransposon:LTR7 0 + 223029701 223030156 0,0,192 mobile_genetic_element direction; reverse 107325942|GeneID:107325942 20951845|PMID:20951845 suggested as a possible recombination region in PMID:20951845 direction; reverse | suggested as a possible recombination region in PMID:20951845 -chr1 225766687 225768183 enhancer 0 + 225766687 225768183 0,128,128 enhancer VISTA enhancer hs2374 110121307|GeneID:110121307 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/5] VISTA enhancer hs2374 | enhancer in: branchial arch[4/5] -chr1 230750692 230754328 enhancer 0 + 230750692 230754328 0,128,128 enhancer VISTA enhancer hs2133 110121263|GeneID:110121263,10753|GeneID:10753 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/9] | other[6/9] VISTA enhancer hs2133 | enhancer in: heart[7/9] | other[6/9] -chr1 230848776 230852235 enhancer 0 + 230848776 230852235 0,128,128 enhancer VISTA enhancer hs1766 110121205|GeneID:110121205 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[7/12] | heart[12/12] | other[5/12] VISTA enhancer hs1766 | enhancer in: dorsal root ganglion[7/12] | heart[12/12] | other[5/12] -chr1 235971491 235974491 meiotic 0 + 235971491 235974491 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107546747|GeneID:107546747 15880103|PMID:15880103,16543360|PMID:16543360 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16543360, PMID:15880103] crossovers mapped in sperm cells of males of European ancestry -chr1 235972207 235973501 meiotic 0 + 235972207 235973501 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107546747|GeneID:107546747 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr1 235972462 235972478 nucleotide_motif 0 + 235972462 235972478 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107546747|GeneID:107546747 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr1 235994132 236000886 meiotic 0 + 235994132 236000886 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107546746|GeneID:107546746 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr1 235996841 235999483 meiotic 0 + 235996841 235999483 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107546746|GeneID:107546746 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr1 235997889 236001318 meiotic 0 + 235997889 236001318 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107546746|GeneID:107546746 15880103|PMID:15880103,16543360|PMID:16543360 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16543360, PMID:15880103] crossovers mapped in sperm cells of males of European ancestry -chr1 235999610 235999611 sequence_feature 0 + 235999610 235999611 192,0,192 sequence_feature sequence feature; approximate center of NID2a meiotic recombination hotspot 107546746|GeneID:107546746 16543360|PMID:16543360 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16543360] sequence feature; approximate center of NID2a meiotic recombination hotspot -chr1 236000984 236000985 sequence_feature 0 + 236000984 236000985 192,0,192 sequence_feature sequence feature; approximate center of NID2b meiotic recombination hotspot 107546746|GeneID:107546746 16543360|PMID:16543360 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16543360] sequence feature; approximate center of NID2b meiotic recombination hotspot -chr1 236036057 236040144 meiotic 0 + 236036057 236040144 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107546745|GeneID:107546745 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr1 236037746 236037762 nucleotide_motif 0 + 236037746 236037762 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107546745|GeneID:107546745 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr1 236038308 236039981 meiotic 0 + 236038308 236039981 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107546745|GeneID:107546745 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr1 236038336 236040337 meiotic 0 + 236038336 236040337 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107546745|GeneID:107546745 15880103|PMID:15880103,15987698|PMID:15987698,16543360|PMID:16543360 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16543360, PMID:15987698, PMID:15880103] crossovers mapped in sperm cells of males of European ancestry -chr1 236038452 236040098 meiotic 0 + 236038452 236040098 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107546745|GeneID:107546745 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr1 236039404 236039405 sequence_alteration 0 + 236039404 236039405 192,0,192 sequence_feature sequence alteration; rs1570113 (also known as M-57.8C/T) found near the center of the hotspot as measured by sperm typing, displays higher recombination frequencies associated with the 'C' allele versus the 'T' allele 107546745|GeneID:107546745 15987698|PMID:15987698 COORDINATES:natural variation mutant evidence [ECO:0001103][PMID:15987698] sequence alteration; rs1570113 (also known as M-57.8C/T) found near the center of the hotspot as measured by sperm typing, displays higher recombination frequencies associated with the 'C' allele versus the 'T' allele -chr1 236096117 236097975 meiotic 0 + 236096117 236097975 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/C genotypes 107548103|GeneID:107548103 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/C genotypes -chr1 236096491 236097991 meiotic 0 + 236096491 236097991 160,82,45 recombination_feature crossovers mapped in sperm cells 107548103|GeneID:107548103 9734365|PMID:9734365,15880103|PMID:15880103 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:9734365, PMID:15880103] crossovers mapped in sperm cells -chr1 236097055 236097068 nucleotide_motif 0 + 236097055 236097068 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107548103|GeneID:107548103 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236097103 236097410 tandem 0 + 236097103 236097410 0,0,192 repeat_region MS32 VNTR, 29 nucleotide repeat 107548103|GeneID:107548103 MS32 VNTR, 29 nucleotide repeat -chr1 236114613 236119357 meiotic 0 + 236114613 236119357 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107546778|GeneID:107546778 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr1 236116099 236116112 nucleotide_motif 0 + 236116099 236116112 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236117670 236117683 nucleotide_motif 0 + 236117670 236117683 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236117956 236119156 meiotic 0 + 236117956 236119156 160,82,45 recombination_feature MSMT1a hotspot, crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with some individuals showing little activity at this hotspot 107546778|GeneID:107546778 16543360|PMID:16543360,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382, PMID:16543360] MSMT1a hotspot, crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with some individuals showing little activity at this hotspot -chr1 236118348 236118361 nucleotide_motif 0 + 236118348 236118361 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236118748 236119550 meiotic 0 + 236118748 236119550 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107546778|GeneID:107546778 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr1 236118806 236118819 nucleotide_motif 0 + 236118806 236118819 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236119598 236122208 meiotic 0 + 236119598 236122208 160,82,45 recombination_feature MSMT1b hotspot, crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary amongst individuals, but is a hotspot in many individuals 107546778|GeneID:107546778 16543360|PMID:16543360,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382, PMID:16543360] MSMT1b hotspot, crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary amongst individuals, but is a hotspot in many individuals -chr1 236120252 236120265 nucleotide_motif 0 + 236120252 236120265 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236120928 236120944 nucleotide_motif 0 + 236120928 236120944 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107546778|GeneID:107546778 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr1 236120938 236120951 nucleotide_motif 0 + 236120938 236120951 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121039 236121052 nucleotide_motif 0 + 236121039 236121052 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121172 236121185 nucleotide_motif 0 + 236121172 236121185 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121373 236121386 nucleotide_motif 0 + 236121373 236121386 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121476 236121489 nucleotide_motif 0 + 236121476 236121489 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121702 236121715 nucleotide_motif 0 + 236121702 236121715 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121797 236121810 nucleotide_motif 0 + 236121797 236121810 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236121837 236121850 nucleotide_motif 0 + 236121837 236121850 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107546778|GeneID:107546778 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr1 236128592 236129560 meiotic 0 + 236128592 236129560 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107546780|GeneID:107546780 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr1 236128820 236130120 meiotic 0 + 236128820 236130120 160,82,45 recombination_feature MSTM2 hotspot, crossovers mapped in sperm cells of males of European ancestry 107546780|GeneID:107546780 15880103|PMID:15880103,16543360|PMID:16543360 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16543360, PMID:15880103] MSTM2 hotspot, crossovers mapped in sperm cells of males of European ancestry -chr1 236639530 236640088 enhancer 0 + 236639530 236640088 0,128,128 enhancer control region 3, which was negatively scoring by a predictive classifier 108004528|GeneID:108004528 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart control region 3, which was negatively scoring by a predictive classifier | enhancer in heart -chr1 236688082 236690415 enhancer 0 + 236688082 236690415 0,128,128 enhancer VISTA enhancer hs2135 110121264|GeneID:110121264,88|GeneID:88 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/5] VISTA enhancer hs2135 | enhancer in: heart[3/5] -chr1 236997311 237000217 enhancer 0 + 236997311 237000217 0,128,128 enhancer VISTA enhancer hs2137 110121265|GeneID:110121265,107985368|GeneID:107985368 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[7/8] | cranial nerve[6/8] VISTA enhancer hs2137 | enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[7/8] | cranial nerve[6/8] -chr1 237011217 237013545 enhancer 0 + 237011217 237013545 0,128,128 enhancer VISTA enhancer hs2138 110121266|GeneID:110121266 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[3/7] VISTA enhancer hs2138 | enhancer in: somite[3/7] -chr1 243713164 243714591 enhancer 0 + 243713164 243714591 0,128,128 enhancer VISTA enhancer hs545 110120698|GeneID:110120698 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[6/7] | forebrain[6/7] VISTA enhancer hs545 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[6/7] | forebrain[6/7] -chr1 246305948 246308048 enhancer 0 + 246305948 246308048 0,128,128 enhancer VISTA enhancer hs2070 110121251|GeneID:110121251 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] | eye[3/5] VISTA enhancer hs2070 | enhancer in: midbrain (mesencephalon)[4/5] | eye[3/5] -chr10 470407 470923 enhancer 0 + 470407 470923 0,128,128 enhancer 106783507|GeneID:106783507 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr10 3045431 3048251 enhancer 0 + 3045431 3048251 0,128,128 enhancer VISTA enhancer hs1958 110121467|GeneID:110121467 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/4] VISTA enhancer hs1958 | enhancer in: heart[4/4] -chr10 3809394 3811671 enhancer 0 + 3809394 3811671 0,128,128 enhancer VISTA enhancer hs1837 110121449|GeneID:110121449 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/11] VISTA enhancer hs1837 | enhancer in: limb[3/11] -chr10 3902129 3903178 enhancer 0 + 3902129 3903178 0,128,128 enhancer amplified fragment containing the chr10:3944320-3945370 (GRCh37) CAGE-defined region 108348022|GeneID:108348022 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr10:3944320-3945370 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr10 6927894 6928314 enhancer 0 + 6927894 6928314 0,128,128 enhancer 106783505|GeneID:106783505 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr10 11679307 11680769 enhancer 0 + 11679307 11680769 0,128,128 enhancer VISTA enhancer hs1382 110121355|GeneID:110121355 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/13] VISTA enhancer hs1382 | enhancer in: forebrain[6/13] -chr10 12913477 12917023 meiotic 0 + 12913477 12917023 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107275226|GeneID:107275226,105376418|GeneID:105376418 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr10 12915769 12917037 meiotic 0 + 12915769 12917037 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 107275226|GeneID:107275226,105376418|GeneID:105376418 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr10 12916193 12916206 nucleotide_motif 0 + 12916193 12916206 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107275226|GeneID:107275226,105376418|GeneID:105376418 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr10 12917180 12917495 SINE:AluYk4 0 + 12917180 12917495 0,0,192 mobile_genetic_element direction; reverse 107275226|GeneID:107275226,105376418|GeneID:105376418 direction; reverse -chr10 12917447 12917484 non_allelic_homologous 0 + 12917447 12917484 160,82,45 recombination_feature 10p13 CCDC3 distal Alu-mediated NAHR sub-region, recombines with the 10p13 CCDC3 proximal Alu-mediated NAHR sub-region within the 10p13 CCDC3 proximal Alu-mediated recombination region 107275226|GeneID:107275226,105376418|GeneID:105376418 26740941|PMID:26740941 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26740941] 10p13 CCDC3 distal Alu-mediated NAHR sub-region, recombines with the 10p13 CCDC3 proximal Alu-mediated NAHR sub-region within the 10p13 CCDC3 proximal Alu-mediated recombination region -chr10 13013618 13015401 meiotic 0 + 13013618 13015401 160,82,45 recombination_feature HapMap CEU population data shows a slight increase in recombination rates within this region 107275223|GeneID:107275223 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] HapMap CEU population data shows a slight increase in recombination rates within this region -chr10 13013618 13016187 meiotic 0 + 13013618 13016187 160,82,45 recombination_feature HapMap YRI population data shows a slight increase in recombination rates within this region 107275223|GeneID:107275223 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] HapMap YRI population data shows a slight increase in recombination rates within this region -chr10 13014172 13014479 SINE:AluY 0 + 13014172 13014479 0,0,192 mobile_genetic_element direction; forward 107275223|GeneID:107275223 direction; forward -chr10 13014205 13014218 non_allelic_homologous 0 + 13014205 13014218 160,82,45 recombination_feature 10p13 CCDC3 medial Alu-mediated NAHR sub-region, recombines with the 10p13 OPTN distal Alu-mediated NAHR sub-region b within the 10p13 OPTN distal Alu-mediated recombination region 107275223|GeneID:107275223 26740941|PMID:26740941 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26740941] 10p13 CCDC3 medial Alu-mediated NAHR sub-region, recombines with the 10p13 OPTN distal Alu-mediated NAHR sub-region b within the 10p13 OPTN distal Alu-mediated recombination region -chr10 13014350 13014368 nucleotide_motif 0 + 13014350 13014368 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107275223|GeneID:107275223 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr10 13014594 13014610 nucleotide_motif 0 + 13014594 13014610 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107275223|GeneID:107275223 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr10 13098710 13099014 SINE:AluSx4 0 + 13098710 13099014 0,0,192 mobile_genetic_element direction; reverse 107275222|GeneID:107275222 direction; reverse -chr10 13098966 13099003 non_allelic_homologous 0 + 13098966 13099003 160,82,45 recombination_feature 10p13 CCDC3 proximal Alu-mediated NAHR sub-region, recombines with the 10p13 CCDC3 distal Alu-mediated NAHR sub-region within the 10p13 CCDC3 distal Alu-mediated recombination region 107275222|GeneID:107275222 26740941|PMID:26740941 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26740941] 10p13 CCDC3 proximal Alu-mediated NAHR sub-region, recombines with the 10p13 CCDC3 distal Alu-mediated NAHR sub-region within the 10p13 CCDC3 distal Alu-mediated recombination region -chr10 13108544 13108845 SINE:AluY 0 + 13108544 13108845 0,0,192 mobile_genetic_element direction; reverse 108903148|GeneID:108903148,10133|GeneID:10133 direction; reverse -chr10 13108708 13108714 non_allelic_homologous 0 + 13108708 13108714 160,82,45 recombination_feature 10p13 OPTN distal Alu-mediated NAHR sub-region a, recombines with the 10p13 OPTN proximal Alu-mediated NAHR sub-region a' within the 10p13 OPTN proximal Alu-mediated recombination region 108903148|GeneID:108903148,10133|GeneID:10133 22402017|PMID:22402017 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22402017] 10p13 OPTN distal Alu-mediated NAHR sub-region a, recombines with the 10p13 OPTN proximal Alu-mediated NAHR sub-region a' within the 10p13 OPTN proximal Alu-mediated recombination region -chr10 13109223 13110667 meiotic 0 + 13109223 13110667 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 108903148|GeneID:108903148,10133|GeneID:10133 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr10 13109543 13109860 SINE:AluJb 0 + 13109543 13109860 0,0,192 mobile_genetic_element direction; forward 108903148|GeneID:108903148,10133|GeneID:10133 direction; forward -chr10 13109577 13109590 non_allelic_homologous 0 + 13109577 13109590 160,82,45 recombination_feature 10p13 OPTN distal Alu-mediated NAHR sub-region b, recombines with the 10p13 CCDC3 medial Alu-mediated NAHR sub-region within the 10p13 CCDC3 medial Alu-mediated recombination region 108903148|GeneID:108903148,10133|GeneID:10133 22402017|PMID:22402017 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22402017] 10p13 OPTN distal Alu-mediated NAHR sub-region b, recombines with the 10p13 CCDC3 medial Alu-mediated NAHR sub-region within the 10p13 CCDC3 medial Alu-mediated recombination region -chr10 13109624 13109636 non_allelic_homologous 0 + 13109624 13109636 160,82,45 recombination_feature 10p13 OPTN distal Alu-mediated NAHR sub-region c, recombines with the 10p13 OPTN proximal Alu-mediated NAHR sub-region c' within the 10p13 OPTN proximal Alu-mediated recombination region 108903148|GeneID:108903148,10133|GeneID:10133 20428114|PMID:20428114 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20428114] 10p13 OPTN distal Alu-mediated NAHR sub-region c, recombines with the 10p13 OPTN proximal Alu-mediated NAHR sub-region c' within the 10p13 OPTN proximal Alu-mediated recombination region -chr10 13111415 13111706 SINE:AluSx 0 + 13111415 13111706 0,0,192 mobile_genetic_element direction; forward 108903149|GeneID:108903149,10133|GeneID:10133 direction; forward -chr10 13111496 13111508 non_allelic_homologous 0 + 13111496 13111508 160,82,45 recombination_feature 10p13 OPTN proximal Alu-mediated NAHR sub-region c', recombines with the 10p13 OPTN distal Alu-mediated NAHR sub-region c within the 10p13 OPTN distal Alu-mediated recombination region 108903149|GeneID:108903149,10133|GeneID:10133 22402017|PMID:22402017 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22402017] 10p13 OPTN proximal Alu-mediated NAHR sub-region c', recombines with the 10p13 OPTN distal Alu-mediated NAHR sub-region c within the 10p13 OPTN distal Alu-mediated recombination region -chr10 13111844 13112147 SINE:AluY 0 + 13111844 13112147 0,0,192 mobile_genetic_element direction; reverse 108903149|GeneID:108903149,10133|GeneID:10133 direction; reverse -chr10 13112009 13112015 non_allelic_homologous 0 + 13112009 13112015 160,82,45 recombination_feature 10p13 OPTN proximal Alu-mediated NAHR sub-region a', recombines with the 10p13 OPTN distal Alu-mediated NAHR sub-region a within the 10p13 OPTN distal Alu-mediated recombination region 108903149|GeneID:108903149,10133|GeneID:10133 20428114|PMID:20428114 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20428114] 10p13 OPTN proximal Alu-mediated NAHR sub-region a', recombines with the 10p13 OPTN distal Alu-mediated NAHR sub-region a within the 10p13 OPTN distal Alu-mediated recombination region -chr10 14506654 14507926 enhancer 0 + 14506654 14507926 0,128,128 enhancer amplified fragment containing the chr10:14548654-14549923 (GRCh37) CAGE-defined region 108353819|GeneID:108353819 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in T cells amplified fragment containing the chr10:14548654-14549923 (GRCh37) CAGE-defined region | transcribed enhancer in T cells -chr10 22022380 22022814 enhancer 0 + 22022380 22022814 0,128,128 enhancer 106783576|GeneID:106783576 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr10 22692965 22694360 enhancer 0 + 22692965 22694360 0,128,128 enhancer VISTA enhancer hs2048 110121476|GeneID:110121476 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/8] VISTA enhancer hs2048 | enhancer in: branchial arch[4/8] -chr10 23432156 23433219 enhancer 0 + 23432156 23433219 0,128,128 enhancer amplified fragment containing the chr10:23721086-23722148 (GRCh37) CAGE-defined region 108353817|GeneID:108353817 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in monocytes amplified fragment containing the chr10:23721086-23722148 (GRCh37) CAGE-defined region | transcribed enhancer in monocytes -chr10 28880009 28880230 enhancer 0 + 28880009 28880230 0,128,128 enhancer heart enhancer 23 108004524|GeneID:108004524,283080|GeneID:283080 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 23 | enhancer in heart -chr10 35636453 35638314 enhancer 0 + 35636453 35638314 0,128,128 enhancer VISTA enhancer hs1588 110121405|GeneID:110121405 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] VISTA enhancer hs1588 | enhancer in: forebrain[5/6] -chr10 35683963 35687004 enhancer 0 + 35683963 35687004 0,128,128 enhancer VISTA enhancer hs1567 110121399|GeneID:110121399 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] | limb[8/8] | branchial arch[3/8] | genital tubercle[4/8] VISTA enhancer hs1567 | enhancer in: hindbrain (rhombencephalon)[6/8] | limb[8/8] | branchial arch[3/8] | genital tubercle[4/8] -chr10 35783343 35785363 enhancer 0 + 35783343 35785363 0,128,128 enhancer VISTA enhancer hs1589 110121406|GeneID:110121406,102578074|GeneID:102578074 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: cranial nerve[4/8] VISTA enhancer hs1589 | enhancer in: cranial nerve[4/8] -chr10 36765816 36768296 enhancer 0 + 36765816 36768296 0,128,128 enhancer VISTA enhancer hs1334 110121348|GeneID:110121348 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/5] VISTA enhancer hs1334 | enhancer in: forebrain[5/5] -chr10 42951825 42953179 enhancer 0 + 42951825 42953179 0,128,128 enhancer VISTA enhancer hs2327 110121503|GeneID:110121503 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] | dorsal root ganglion[3/6] | other[3/6] VISTA enhancer hs2327 | enhancer in: midbrain (mesencephalon)[4/6] | dorsal root ganglion[3/6] | other[3/6] -chr10 42980636 42982237 enhancer 0 + 42980636 42982237 0,128,128 enhancer VISTA enhancer hs2497 110121506|GeneID:110121506 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/4] VISTA enhancer hs2497 | enhancer in: midbrain (mesencephalon)[3/4] -chr10 43056441 43058441 enhancer 0 + 43056441 43058441 0,128,128 enhancer VISTA enhancer hs2498 110121507|GeneID:110121507 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[6/5] | other[5/5] VISTA enhancer hs2498 | enhancer in: dorsal root ganglion[6/5] | other[5/5] -chr10 43072913 43073671 enhancer 0 + 43072913 43073671 0,128,128 enhancer D15 750 bp fragment 106736614|GeneID:106736614 11032856|PMID:11032856 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11032856] D15 750 bp fragment -chr10 43073379 43073671 enhancer 0 + 43073379 43073671 0,128,128 enhancer 280 bp fragment 106736614|GeneID:106736614 12668617|PMID:12668617 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12668617] 280 bp fragment -chr10 43073630 43073670 protein_bind: SRY box 10; paired box 3 0 + 43073630 43073670 192,0,0 protein_binding_site Site A 106736614|GeneID:106736614 11032856|PMID:11032856 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11032856] promote enhancer activity Site A | promote enhancer activity | SRY box 10; paired box 3 -chr10 43073881 43074043 enhancer 0 + 43073881 43074043 0,128,128 enhancer RARE (retinoic acid response element) 106736614|GeneID:106736614 20952403|PMID:20952403 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20952403] RARE (retinoic acid response element) -chr10 43073881 43074043 protein_bind: retinoic acid receptor, alpha 0 + 43073881 43074043 192,0,0 protein_binding_site RARE (retinoic acid response element); contains two GGGTCA half sites 106736614|GeneID:106736614 20952403|PMID:20952403 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:20952403] regulates histone modifications RARE (retinoic acid response element); contains two GGGTCA half sites | regulates histone modifications | retinoic acid receptor, alpha -chr10 43076125 43076392 enhancer 0 + 43076125 43076392 0,128,128 enhancer D2 fragment (-932 to -666) 106736614|GeneID:106736614 21677782|PMID:21677782 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21677782] D2 fragment (-932 to -666) -chr10 43076165 43076220 protein_bind: homeobox B5 0 + 43076165 43076220 192,0,0 protein_binding_site D2A probe 106736614|GeneID:106736614 21677782|PMID:21677782 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21677782] promotes enhancer activity; synergizes with Nkx2-1 D2A probe | promotes enhancer activity; synergizes with Nkx2-1 | homeobox B5 -chr10 43076607 43077291 promoter 0 + 43076607 43077291 0,128,128 promoter D1 fragment (-453 to +227) 106736614|GeneID:106736614 11054558|PMID:11054558 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11054558] D1 fragment (-453 to +227) -chr10 43076992 43077030 protein_bind: early growth response 1 0 + 43076992 43077030 192,0,0 protein_binding_site 106736614|GeneID:106736614 12406571|PMID:12406571 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12406571] blocks association of Sp1/Sp3 and represses promoter activity blocks association of Sp1/Sp3 and represses promoter activity | early growth response 1 -chr10 43076992 43077291 promoter 0 + 43076992 43077291 0,128,128 promoter D8 fragment (-70 to +227) 106736614|GeneID:106736614 11054558|PMID:11054558 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11054558] core promoter D8 fragment (-70 to +227) | core promoter -chr10 43077003 43077032 protein_bind: Sp1 and Sp3 transcription factors 0 + 43077003 43077032 192,0,0 protein_binding_site -59 to -31 106736614|GeneID:106736614 11054558|PMID:11054558 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:11054558] -59 to -31 | Sp1 and Sp3 transcription factors -chr10 43077050 43077078 protein_bind: NK2 homeobox 1 0 + 43077050 43077078 192,0,0 protein_binding_site 106736614|GeneID:106736614 15548547|PMID:15548547 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15548547] positively regulates promoter activity positively regulates promoter activity | NK2 homeobox 1 -chr10 43086363 43087263 enhancer 0 + 43086363 43087263 0,128,128 enhancer MCS+9.7 enhancer construct 106736613|GeneID:106736613,5979|GeneID:5979 15829955|PMID:15829955,16269442|PMID:16269442 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15829955, PMID:16269442] enhancer in excretory system and central and peripheral nervous systems MCS+9.7 enhancer construct | enhancer in excretory system and central and peripheral nervous systems -chr10 43086363 43087440 enhancer 0 + 43086363 43087440 0,128,128 enhancer VISTA enhancer hs2326 110121502|GeneID:110121502,5979|GeneID:5979 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/4] | dorsal root ganglion[3/4] | other[3/4] VISTA enhancer hs2326 | enhancer in: midbrain (mesencephalon)[3/4] | dorsal root ganglion[3/4] | other[3/4] -chr10 43086417 43086718 enhancer 0 + 43086417 43086718 0,128,128 enhancer Enh1 amplicon 106736613|GeneID:106736613,5979|GeneID:5979 20977903|PMID:20977903 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20977903] Enh1 amplicon -chr10 43086585 43086836 conserved_region 0 + 43086585 43086836 192,0,192 sequence_feature conserved region; MCS+9.7, 250 bp reported range in Supplemental Table 1, PMID:15829955 106736613|GeneID:106736613,5979|GeneID:5979 15829955|PMID:15829955 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:15829955] conserved region; MCS+9.7, 250 bp reported range in Supplemental Table 1, PMID:15829955 -chr10 43086604 43086610 protein_bind: SRY box 10 0 + 43086604 43086610 192,0,0 protein_binding_site SOX10-BS2; assayed by deletion in functional assay, binding inferred from ChIP analysis 106736613|GeneID:106736613,5979|GeneID:5979 20598273|PMID:20598273 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:20598273] promotes enhancer activity SOX10-BS2; assayed by deletion in functional assay, binding inferred from ChIP analysis | promotes enhancer activity | SRY box 10 -chr10 43086632 43086750 enhancer 0 + 43086632 43086750 0,128,128 enhancer IB3 construct 106736613|GeneID:106736613,5979|GeneID:5979 24794774|PMID:24794774 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24794774] IB3 construct -chr10 43086658 43086712 protein_bind: homeobox B5 0 + 43086658 43086712 192,0,0 protein_binding_site IB3-1 probe 106736613|GeneID:106736613,5979|GeneID:5979 24794774|PMID:24794774 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24794774] IB3-1 probe | homeobox B5 -chr10 43086722 43087192 enhancer 0 + 43086722 43087192 0,128,128 enhancer Enh2 amplicon 106736613|GeneID:106736613,5979|GeneID:5979 20977903|PMID:20977903 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20977903] Enh2 amplicon -chr10 43086810 43086840 protein_bind: neuronal PAS domain protein 4/aryl-hydrocarbon receptor nuclear translocator 2 heterodimer 0 + 43086810 43086840 192,0,0 protein_binding_site 106736613|GeneID:106736613,5979|GeneID:5979 20977903|PMID:20977903 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20977903] promotes enhancer activity promotes enhancer activity | neuronal PAS domain protein 4/aryl-hydrocarbon receptor nuclear translocator 2 heterodimer -chr10 45557433 45560222 enhancer 0 + 45557433 45560222 0,128,128 enhancer VISTA enhancer hs2065 110121478|GeneID:110121478 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[9/9] VISTA enhancer hs2065 | enhancer in: blood vessels[9/9] -chr10 67881966 67881990 protein_bind: apurinic/apyrimidinic endodeoxyribonuclease 1 0 + 67881966 67881990 192,0,0 protein_binding_site nCaRE SIRT1-A 107832851|GeneID:107832851 24356447|PMID:24356447 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24356447] promotes gene expression nCaRE SIRT1-A | promotes gene expression | apurinic/apyrimidinic endodeoxyribonuclease 1 -chr10 67882335 67884721 promoter 0 + 67882335 67884721 0,128,128 promoter -2341 promoter 107832851|GeneID:107832851 21555002|PMID:21555002 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21555002] -2341 promoter -chr10 67882913 67882937 protein_bind: X-ray repair complementing defective repair in Chinese hamster cells 6 0 + 67882913 67882937 192,0,0 protein_binding_site nCaRE SIRT1-B 107832851|GeneID:107832851 24356447|PMID:24356447 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24356447] nCaRE SIRT1-B | X-ray repair complementing defective repair in Chinese hamster cells 6 -chr10 67882913 67882937 protein_bind: apurinic/apyrimidinic endodeoxyribonuclease 1 0 + 67882913 67882937 192,0,0 protein_binding_site nCaRE SIRT1-B 107832851|GeneID:107832851 24356447|PMID:24356447 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24356447] promotes gene expression nCaRE SIRT1-B | promotes gene expression | apurinic/apyrimidinic endodeoxyribonuclease 1 -chr10 67882913 67882937 stem_loop: nCaRE SIRT1-B 0 + 67882913 67882937 0,0,0 stem_loop nCaRE SIRT1-B; T7 endonuclease I cleavage footprinting suggests cruciform (double stem-loop) 107832851|GeneID:107832851 24356447|PMID:24356447 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:24356447] nCaRE SIRT1-B; T7 endonuclease I cleavage footprinting suggests cruciform (double stem-loop) -chr10 67883568 67883588 protein_bind: tumor protein p53 0 + 67883568 67883588 192,0,0 protein_binding_site p53ubs; binding affected by C/T polymorphism (rs3758391); T allele has increased binding; binding antagonized by association of Hic1 107832851|GeneID:107832851 20693263|PMID:20693263 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20693263] mediates stimulation of expression by nutrient stress p53ubs; binding affected by C/T polymorphism (rs3758391); T allele has increased binding; binding antagonized by association of Hic1 | mediates stimulation of expression by nutrient stress | tumor protein p53 -chr10 67883691 67884723 promoter 0 + 67883691 67884723 0,128,128 promoter -977 to +55 promoter; activity is affected by polymorphism at rs35706870 107832851|GeneID:107832851 24875419|PMID:24875419 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24875419] -977 to +55 promoter; activity is affected by polymorphism at rs35706870 -chr10 67884510 67884722 promoter 0 + 67884510 67884722 0,128,128 promoter p158 promoter fragment 107832851|GeneID:107832851 19267881|PMID:19267881 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19267881] p158 promoter fragment -chr10 67884531 67884552 protein_bind: tumor protein p53 0 + 67884531 67884552 192,0,0 protein_binding_site Sirt1p53RE 107832851|GeneID:107832851 19267881|PMID:19267881 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19267881] promotes gene expression Sirt1p53RE | promotes gene expression | tumor protein p53 -chr10 67884548 67884724 promoter 0 + 67884548 67884724 0,128,128 promoter -115 to +61 107832851|GeneID:107832851 20160399|PMID:20160399 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20160399] -115 to +61 -chr10 67884594 67884622 protein_bind: Sp1 transcription factor 0 + 67884594 67884622 192,0,0 protein_binding_site 107832851|GeneID:107832851 20160399|PMID:20160399 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20160399] promotes gene expression promotes gene expression | Sp1 transcription factor -chr10 69575916 69578841 enhancer 0 + 69575916 69578841 0,128,128 enhancer chr10 NRF1 and E2F4 HCT region upstream of NEUROG3 108178982|GeneID:108178982 20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20363979] HCT enhancer chr10 NRF1 and E2F4 HCT region upstream of NEUROG3 | HCT enhancer -chr10 69576018 69578973 enhancer 0 + 69576018 69578973 0,128,128 enhancer VISTA enhancer hs1699 108178982|GeneID:108178982 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[4/5] VISTA enhancer hs1699 | enhancer in: tail[4/5] -chr10 69576592 69578418 conserved_region 0 + 69576592 69578418 192,0,192 sequence_feature conserved region; HCT with multiple NRF1 binding motifs 108178982|GeneID:108178982 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple NRF1 binding motifs -chr10 69577409 69578667 conserved_region 0 + 69577409 69578667 192,0,192 sequence_feature conserved region; HCT with multiple E2F4 binding motifs 108178982|GeneID:108178982 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple E2F4 binding motifs -chr10 73964098 73967969 enhancer 0 + 73964098 73967969 0,128,128 enhancer VISTA enhancer hs2142 110121485|GeneID:110121485 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/8] | somite[8/8] | midbrain (mesencephalon)[7/8] | forebrain[6/8] | heart[7/8] VISTA enhancer hs2142 | enhancer in: hindbrain (rhombencephalon)[7/8] | somite[8/8] | midbrain (mesencephalon)[7/8] | forebrain[6/8] | heart[7/8] -chr10 74418006 74419242 enhancer 0 + 74418006 74419242 0,128,128 enhancer VISTA enhancer hs595 110120903|GeneID:110120903,132|GeneID:132 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[9/13] | forebrain[12/13] | nose[8/13] VISTA enhancer hs595 | enhancer in: midbrain (mesencephalon)[9/13] | forebrain[12/13] | nose[8/13] -chr10 74753402 74754923 enhancer 0 + 74753402 74754923 0,128,128 enhancer VISTA enhancer hs1500 110121382|GeneID:110121382 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/7] | limb[7/7] VISTA enhancer hs1500 | enhancer in: neural tube[6/7] | limb[7/7] -chr10 75261439 75263087 enhancer 0 + 75261439 75263087 0,128,128 enhancer VISTA enhancer hs1437 110121366|GeneID:110121366 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/4] VISTA enhancer hs1437 | enhancer in: limb[4/4] -chr10 75404805 75405881 enhancer 0 + 75404805 75405881 0,128,128 enhancer VISTA enhancer hs484 110120879|GeneID:110120879,100131213|GeneID:100131213 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/7] | limb[3/7] | branchial arch[6/7] | eye[3/7] | nose[5/7] VISTA enhancer hs484 | enhancer in: midbrain (mesencephalon)[7/7] | limb[3/7] | branchial arch[6/7] | eye[3/7] | nose[5/7] -chr10 75967102 75967860 enhancer 0 + 75967102 75967860 0,128,128 enhancer VISTA enhancer hs320 110120849|GeneID:110120849,83938|GeneID:83938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/12] | hindbrain (rhombencephalon)[10/12] | eye[9/12] VISTA enhancer hs320 | enhancer in: neural tube[10/12] | hindbrain (rhombencephalon)[10/12] | eye[9/12] -chr10 76034144 76038131 enhancer 0 + 76034144 76038131 0,128,128 enhancer VISTA enhancer hs1679 110121427|GeneID:110121427,83938|GeneID:83938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | heart[4/6] | other[4/6] VISTA enhancer hs1679 | enhancer in: neural tube[6/6] | heart[4/6] | other[4/6] -chr10 76396758 76398994 enhancer 0 + 76396758 76398994 0,128,128 enhancer VISTA enhancer hs1683 110121428|GeneID:110121428,83938|GeneID:83938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[4/4] | branchial arch[3/4] VISTA enhancer hs1683 | enhancer in: somite[4/4] | branchial arch[3/4] -chr10 76522833 76525230 enhancer 0 + 76522833 76525230 0,128,128 enhancer VISTA enhancer hs1434 110121364|GeneID:110121364,83938|GeneID:83938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/7] | limb[7/7] VISTA enhancer hs1434 | enhancer in: neural tube[6/7] | limb[7/7] -chr10 76630831 76632117 enhancer 0 + 76630831 76632117 0,128,128 enhancer VISTA enhancer hs748 110120929|GeneID:110120929 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/8] VISTA enhancer hs748 | enhancer in: forebrain[5/8] -chr10 78175812 78180338 enhancer 0 + 78175812 78180338 0,128,128 enhancer VISTA enhancer hs2223 110121496|GeneID:110121496 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/6] | midbrain (mesencephalon)[3/6] | forebrain[5/6] VISTA enhancer hs2223 | enhancer in: hindbrain (rhombencephalon)[4/6] | midbrain (mesencephalon)[3/6] | forebrain[5/6] -chr10 78212632 78217575 enhancer 0 + 78212632 78217575 0,128,128 enhancer VISTA enhancer hs1974 110121470|GeneID:110121470 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/5] VISTA enhancer hs1974 | enhancer in: heart[4/5] -chr10 78535691 78537330 enhancer 0 + 78535691 78537330 0,128,128 enhancer VISTA enhancer hs1491 110121379|GeneID:110121379 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[7/12] | tail[5/12] VISTA enhancer hs1491 | enhancer in: limb[7/12] | tail[5/12] -chr10 79220558 79224285 enhancer 0 + 79220558 79224285 0,128,128 enhancer VISTA enhancer hs1767 110121445|GeneID:110121445,57178|GeneID:57178 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/12] | other[7/12] VISTA enhancer hs1767 | enhancer in: heart[7/12] | other[7/12] -chr10 86684071 86689569 enhancer 0 + 86684071 86689569 0,128,128 enhancer VISTA enhancer hs2143 110121486|GeneID:110121486,11155|GeneID:11155 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[9/12] | heart[12/12] VISTA enhancer hs2143 | enhancer in: somite[9/12] | heart[12/12] -chr10 90930263 90930917 enhancer 0 + 90930263 90930917 0,128,128 enhancer VISTA enhancer hs495 110120884|GeneID:110120884 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | nose[5/5] VISTA enhancer hs495 | enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | nose[5/5] -chr10 91588731 91591966 enhancer 0 + 91588731 91591966 0,128,128 enhancer VISTA enhancer hs1950 110121466|GeneID:110121466 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[4/4] | branchial arch[4/4] | heart[4/4] VISTA enhancer hs1950 | enhancer in: somite[4/4] | branchial arch[4/4] | heart[4/4] -chr10 92692390 92692392 mitotic 0 + 92692390 92692392 160,82,45 recombination_feature NUP98-HHEX recombination region recombines with sequences within the NUP98 intron 13 (HHEX) recombination sub-region within the nucleoporin 98kDa recombination region 107195252|GeneID:107195252,3087|GeneID:3087 18388181|PMID:18388181 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:18388181] NUP98-HHEX recombination region recombines with sequences within the NUP98 intron 13 (HHEX) recombination sub-region within the nucleoporin 98kDa recombination region -chr10 92754238 92758232 enhancer 0 + 92754238 92758232 0,128,128 enhancer VISTA enhancer hs1866 110121455|GeneID:110121455 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[5/5] VISTA enhancer hs1866 | enhancer in: blood vessels[5/5] -chr10 93702522 93702546 repeat_instability_region 0 + 93702522 93702546 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat (CCG relative to the plus strand of the reference genome) is associated with fragility at FRA10A 109280162|GeneID:109280162 15203205|PMID:15203205 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:15203205] repeat instability region; expansion of the (CGG)n trinucleotide repeat (CCG relative to the plus strand of the reference genome) is associated with fragility at FRA10A -chr10 93702522 93702548 tandem 0 + 93702522 93702548 0,0,192 repeat_region 109280162|GeneID:109280162 repeat_region -chr10 95507958 95509585 enhancer 0 + 95507958 95509585 0,128,128 enhancer VISTA enhancer hs2353 110121505|GeneID:110121505 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/6] VISTA enhancer hs2353 | enhancer in: heart[4/6] -chr10 99783837 99784499 enhancer 0 + 99783837 99784499 0,128,128 enhancer amplified fragment containing the chr10:101543856-101543953 (GRCh37) CAGE region 108281165|GeneID:108281165,1244|GeneID:1244 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr10:101543856-101543953 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr10 99784098 99784196 CAGE_cluster 0 + 99784098 99784196 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281165|GeneID:108281165,1244|GeneID:1244 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr10 100485084 100486577 enhancer 0 + 100485084 100486577 0,128,128 enhancer VISTA enhancer hs1006 110121311|GeneID:110121311 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] | forebrain[6/6] VISTA enhancer hs1006 | enhancer in: hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] | forebrain[6/6] -chr10 100786832 100788338 enhancer 0 + 100786832 100788338 0,128,128 enhancer VISTA enhancer hs229 110120845|GeneID:110120845,5076|GeneID:5076 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/5] VISTA enhancer hs229 | enhancer in: heart[3/5] -chr10 101506891 101508215 enhancer 0 + 101506891 101508215 0,128,128 enhancer VISTA enhancer hs326 110120850|GeneID:110120850,8945|GeneID:8945 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/7] VISTA enhancer hs326 | enhancer in: limb[4/7] -chr10 101767435 101768636 enhancer 0 + 101767435 101768636 0,128,128 enhancer VISTA enhancer hs511 110120886|GeneID:110120886,105378457|GeneID:105378457 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[5/6] VISTA enhancer hs511 | enhancer in: tail[5/6] -chr10 101775918 101781306 promoter 0 + 101775918 101781306 0,128,128 promoter -5406 to -18 promoter fragment 109136576|GeneID:109136576 12054865|PMID:12054865 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12054865] drives expression in pharyngeal endoderm and ectoderm, cardiac outflow tract -5406 to -18 promoter fragment | drives expression in pharyngeal endoderm and ectoderm, cardiac outflow tract -chr10 101777748 101777764 protein_bind: retinoic acid receptor alpha 0 + 101777748 101777764 192,0,0 protein_binding_site -1855 to -1870 DNase I footprint 109136576|GeneID:109136576 12054865|PMID:12054865 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12054865] -1855 to -1870 DNase I footprint | retinoic acid receptor alpha -chr10 101777839 101777855 protein_bind: retinoic acid receptor alpha 0 + 101777839 101777855 192,0,0 protein_binding_site -1946 to -1961 DNase I footprint 109136576|GeneID:109136576 12054865|PMID:12054865 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12054865] -1946 to -1961 DNase I footprint | retinoic acid receptor alpha -chr10 101780422 101781273 enhancer 0 + 101780422 101781273 0,128,128 enhancer VISTA enhancer hs513 110120887|GeneID:110120887 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[6/7] | cranial nerve[6/7] VISTA enhancer hs513 | enhancer in: dorsal root ganglion[6/7] | cranial nerve[6/7] -chr10 101780588 101780609 protein_bind: retinoic acid receptor alpha 0 + 101780588 101780609 192,0,0 protein_binding_site DR2 DNase I footprint 109136576|GeneID:109136576 12054865|PMID:12054865 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12054865] DR2 DNase I footprint | retinoic acid receptor alpha -chr10 102837372 102837652 promoter 0 + 102837372 102837652 0,128,128 promoter SacI/NaeI fragment for -235 to +72 promoter 110408762|GeneID:110408762 1964490|PMID:1964490 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1964490] SacI/NaeI fragment for -235 to +72 promoter -chr10 102837454 102837473 protein_bind: non-POU domain containing octamer binding 0 + 102837454 102837473 192,0,0 protein_binding_site -57 to -38 110408762|GeneID:110408762 11897684|PMID:11897684 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11897684] -57 to -38 | non-POU domain containing octamer binding -chr10 102837454 102837473 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 102837454 102837473 192,0,0 protein_binding_site H17-a Ad4BP site 110408762|GeneID:110408762 1517227|PMID:1517227,11897684|PMID:11897684 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227, PMID:11897684] positive regulation of promoter activity H17-a Ad4BP site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr10 102837454 102837473 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 102837454 102837473 192,0,0 protein_binding_site -50 Ad4BP site 110408762|GeneID:110408762 19359379|PMID:19359379 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19359379] -50 Ad4BP site | nuclear receptor subfamily 5 group A member 2 -chr10 102837454 102837473 protein_bind: splicing factor proline and glutamine rich 0 + 102837454 102837473 192,0,0 protein_binding_site -57 to -38 110408762|GeneID:110408762 11897684|PMID:11897684 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11897684] -57 to -38 | splicing factor proline and glutamine rich -chr10 102837466 102837493 protein_bind: GATA binding protein 4 0 + 102837466 102837493 192,0,0 protein_binding_site GATA site -75 to -49 110408762|GeneID:110408762 14988427|PMID:14988427 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14988427] GATA site -75 to -49 | GATA binding protein 4 -chr10 102837488 102837526 protein_bind: nuclear factor I C 0 + 102837488 102837526 192,0,0 protein_binding_site FP1 110408762|GeneID:110408762 11463853|PMID:11463853,14684846|PMID:14684846 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11463853, PMID:14684846] FP1 | nuclear factor I C -chr10 102837563 102837576 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 102837563 102837576 192,0,0 protein_binding_site Ad4BP site -150/-142; H17-b 110408762|GeneID:110408762 1517227|PMID:1517227,11145739|PMID:11145739 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227, PMID:11145739] Ad4BP site -150/-142; H17-b | nuclear receptor subfamily 5 group A member 1 -chr10 102837563 102837576 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 102837563 102837576 192,0,0 protein_binding_site Ad4BP site -146 110408762|GeneID:110408762 19359379|PMID:19359379 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19359379] Ad4BP site -146 | nuclear receptor subfamily 5 group A member 2 -chr10 102837564 102837594 protein_bind: nuclear factor I C 0 + 102837564 102837594 192,0,0 protein_binding_site FP2 110408762|GeneID:110408762 11463853|PMID:11463853,14684846|PMID:14684846 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11463853, PMID:14684846] FP2 | nuclear factor I C -chr10 102837597 102837635 protein_bind: Sp1/Sp3 transcription factors 0 + 102837597 102837635 192,0,0 protein_binding_site FP3 110408762|GeneID:110408762 11463853|PMID:11463853 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11463853] FP3 | Sp1/Sp3 transcription factors -chr10 102837616 102837633 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 102837616 102837633 192,0,0 protein_binding_site Ad4BP site -211/-204; H17-d 110408762|GeneID:110408762 1517227|PMID:1517227,11145739|PMID:11145739 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227, PMID:11145739] Ad4BP site -211/-204; H17-d | nuclear receptor subfamily 5 group A member 1 -chr10 102837685 102837714 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 102837685 102837714 192,0,0 protein_binding_site -290 to -276 SF1 site 3 110408762|GeneID:110408762 11145739|PMID:11145739 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11145739] -290 to -276 SF1 site 3 | nuclear receptor subfamily 5 group A member 1 -chr10 102837685 102837714 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 102837685 102837714 192,0,0 protein_binding_site SF1 -294/-285 site 110408762|GeneID:110408762 19359379|PMID:19359379 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19359379] SF1 -294/-285 site | nuclear receptor subfamily 5 group A member 2 -chr10 102838024 102838054 protein_bind: Sp1 transcription factor 0 + 102838024 102838054 192,0,0 protein_binding_site S2 site 110408762|GeneID:110408762 28530704|PMID:28530704 EXISTENCE:protein binding evidence [ECO:0000024][PMID:28530704] S2 site | Sp1 transcription factor -chr10 102838151 102838185 protein_bind: Sp1 transcription factor 0 + 102838151 102838185 192,0,0 protein_binding_site S1 site 110408762|GeneID:110408762 28530704|PMID:28530704 EXISTENCE:protein binding evidence [ECO:0000024][PMID:28530704] S1 site | Sp1 transcription factor -chr10 111241824 111242923 tandem 0 + 111241824 111242923 0,0,192 repeat_region 109614541|GeneID:109614541 repeat_region -chr10 111241954 111241984 nucleotide_motif 0 + 111241954 111241984 192,0,192 sequence_feature nucleotide motif; T1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; T1 motif from PMID:9660961 -chr10 111241984 111242014 nucleotide_motif 0 + 111241984 111242014 192,0,192 sequence_feature nucleotide motif; T1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; T1 motif from PMID:9660961 -chr10 111242014 111242044 nucleotide_motif 0 + 111242014 111242044 192,0,192 sequence_feature nucleotide motif; T1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; T1 motif from PMID:9660961 -chr10 111242044 111242074 nucleotide_motif 0 + 111242044 111242074 192,0,192 sequence_feature nucleotide motif; T1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; T1 motif from PMID:9660961 -chr10 111242247 111242264 nucleotide_motif 0 + 111242247 111242264 192,0,192 sequence_feature nucleotide motif; P1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; P1 motif from PMID:9660961 -chr10 111242264 111242287 nucleotide_motif 0 + 111242264 111242287 192,0,192 sequence_feature nucleotide motif; P3 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; P3 motif from PMID:9660961 -chr10 111242287 111242310 nucleotide_motif 0 + 111242287 111242310 192,0,192 sequence_feature nucleotide motif; P3 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; P3 motif from PMID:9660961 -chr10 111242310 111242333 nucleotide_motif 0 + 111242310 111242333 192,0,192 sequence_feature nucleotide motif; P4 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; P4 motif from PMID:9660961 -chr10 111242333 111242361 nucleotide_motif 0 + 111242333 111242361 192,0,192 sequence_feature nucleotide motif; e1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; e1 motif from PMID:9660961 -chr10 111242333 111242620 repeat_instability_region 0 + 111242333 111242620 192,0,192 sequence_feature repeat instability region; expansion of the E repeats in long normal alleles results in chromosome fragility at this site 109614541|GeneID:109614541 9660961|PMID:9660961,11196131|PMID:11196131 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9660961, PMID:11196131] repeat instability region; expansion of the E repeats in long normal alleles results in chromosome fragility at this site -chr10 111242361 111242399 nucleotide_motif 0 + 111242361 111242399 192,0,192 sequence_feature nucleotide motif; E1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; E1 motif from PMID:9660961 -chr10 111242399 111242439 nucleotide_motif 0 + 111242399 111242439 192,0,192 sequence_feature nucleotide motif; E2 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; E2 motif from PMID:9660961 -chr10 111242439 111242479 nucleotide_motif 0 + 111242439 111242479 192,0,192 sequence_feature nucleotide motif; E2 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 DESCRIPTION:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; E2 motif from PMID:9660961 -chr10 111242479 111242526 nucleotide_motif 0 + 111242479 111242526 192,0,192 sequence_feature nucleotide motif; E4 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; E4 motif from PMID:9660961 -chr10 111242526 111242570 nucleotide_motif 0 + 111242526 111242570 192,0,192 sequence_feature nucleotide motif; e7 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; e7 motif from PMID:9660961 -chr10 111242570 111242620 nucleotide_motif 0 + 111242570 111242620 192,0,192 sequence_feature nucleotide motif; e10 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; e10 motif from PMID:9660961 -chr10 111242620 111242654 nucleotide_motif 0 + 111242620 111242654 192,0,192 sequence_feature nucleotide motif; S5 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S5 motif from PMID:9660961 -chr10 111242654 111242686 nucleotide_motif 0 + 111242654 111242686 192,0,192 sequence_feature nucleotide motif; S3 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S3 motif from PMID:9660961 -chr10 111242686 111242721 nucleotide_motif 0 + 111242686 111242721 192,0,192 sequence_feature nucleotide motif; S6 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S6 motif from PMID:9660961 -chr10 111242721 111242754 nucleotide_motif 0 + 111242721 111242754 192,0,192 sequence_feature nucleotide motif; S8 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S8 motif from PMID:9660961 -chr10 111242754 111242787 nucleotide_motif 0 + 111242754 111242787 192,0,192 sequence_feature nucleotide motif; S8 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S8 motif from PMID:9660961 -chr10 111242787 111242811 nucleotide_motif 0 + 111242787 111242811 192,0,192 sequence_feature nucleotide motif; S2 motif from PMID:966096 109614541|GeneID:109614541 966096|PMID:966096,9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S2 motif from PMID:966096 -chr10 111242811 111242841 nucleotide_motif 0 + 111242811 111242841 192,0,192 sequence_feature nucleotide motif; S12 motif from PMID:966096 109614541|GeneID:109614541 966096|PMID:966096,9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S12 motif from PMID:966096 -chr10 111242841 111242871 nucleotide_motif 0 + 111242841 111242871 192,0,192 sequence_feature nucleotide motif; S10 motif from PMID:966096 109614541|GeneID:109614541 966096|PMID:966096,9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; S10 motif from PMID:966096 -chr10 111242871 111242900 nucleotide_motif 0 + 111242871 111242900 192,0,192 sequence_feature nucleotide motif; D1 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; D1 motif from PMID:9660961 -chr10 111242900 111242928 nucleotide_motif 0 + 111242900 111242928 192,0,192 sequence_feature nucleotide motif; D3 motif from PMID:9660961 109614541|GeneID:109614541 9660961|PMID:9660961 COORDINATES:manual assertion [ECO:0000218][PMID:9660961] nucleotide motif; D3 motif from PMID:9660961 -chr10 112997944 112998897 enhancer 0 + 112997944 112998897 0,128,128 enhancer VISTA enhancer hs1980 110121472|GeneID:110121472,6934|GeneID:6934 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: pancreas[3/4] VISTA enhancer hs1980 | enhancer in: pancreas[3/4] -chr10 117094612 117095732 enhancer 0 + 117094612 117095732 0,128,128 enhancer VISTA enhancer hs841 110120938|GeneID:110120938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/8] | forebrain[5/8] VISTA enhancer hs841 | enhancer in: midbrain (mesencephalon)[3/8] | forebrain[5/8] -chr10 117549688 117551033 enhancer 0 + 117549688 117551033 0,128,128 enhancer VISTA enhancer hs1032 110120952|GeneID:110120952 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/7] | forebrain[6/7] VISTA enhancer hs1032 | enhancer in: midbrain (mesencephalon)[6/7] | forebrain[6/7] -chr10 117550971 117551947 enhancer 0 + 117550971 117551947 0,128,128 enhancer VISTA enhancer hs935 110120952|GeneID:110120952 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[14/15] VISTA enhancer hs935 | enhancer in: midbrain (mesencephalon)[14/15] -chr10 117830147 117831665 enhancer 0 + 117830147 117831665 0,128,128 enhancer VISTA enhancer hs1236 110121334|GeneID:110121334 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/8] | limb[6/8] | tail[5/8] VISTA enhancer hs1236 | enhancer in: forebrain[8/8] | limb[6/8] | tail[5/8] -chr10 117966287 117967650 enhancer 0 + 117966287 117967650 0,128,128 enhancer VISTA enhancer hs1551 110121396|GeneID:110121396 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/7] VISTA enhancer hs1551 | enhancer in: heart[3/7] -chr10 118314526 118316184 enhancer 0 + 118314526 118316184 0,128,128 enhancer VISTA enhancer hs672 110120919|GeneID:110120919 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] | forebrain[4/5] VISTA enhancer hs672 | enhancer in: midbrain (mesencephalon)[4/5] | forebrain[4/5] -chr10 123067937 123070218 enhancer 0 + 123067937 123070218 0,128,128 enhancer VISTA enhancer hs1319 110121344|GeneID:110121344 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/8] | forebrain[5/8] VISTA enhancer hs1319 | enhancer in: neural tube[6/8] | forebrain[5/8] -chr10 123092296 123093555 enhancer 0 + 123092296 123093555 0,128,128 enhancer VISTA enhancer hs329 110120851|GeneID:110120851 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/5] VISTA enhancer hs329 | enhancer in: limb[5/5] -chr10 123429470 123430559 enhancer 0 + 123429470 123430559 0,128,128 enhancer VISTA enhancer hs578 110120898|GeneID:110120898,105378531|GeneID:105378531 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/7] VISTA enhancer hs578 | enhancer in: neural tube[6/7] -chr10 125216752 125217434 enhancer 0 + 125216752 125217434 0,128,128 enhancer VISTA enhancer hs330 110120852|GeneID:110120852 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] VISTA enhancer hs330 | enhancer in: hindbrain (rhombencephalon)[5/5] -chr10 128568603 128569741 enhancer 0 + 128568603 128569741 0,128,128 enhancer VISTA enhancer hs737 110120928|GeneID:110120928 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[11/11] VISTA enhancer hs737 | enhancer in: hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[11/11] -chr10 129033192 129034911 enhancer 0 + 129033192 129034911 0,128,128 enhancer VISTA enhancer hs699 110120924|GeneID:110120924 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/11] | forebrain[6/11] VISTA enhancer hs699 | enhancer in: midbrain (mesencephalon)[6/11] | forebrain[6/11] -chr10 129308257 129310478 enhancer 0 + 129308257 129310478 0,128,128 enhancer VISTA enhancer hs562 110120892|GeneID:110120892 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] VISTA enhancer hs562 | enhancer in: hindbrain (rhombencephalon)[5/5] -chr10 129602683 129604015 enhancer 0 + 129602683 129604015 0,128,128 enhancer VISTA enhancer hs656 110120916|GeneID:110120916,4255|GeneID:4255 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] VISTA enhancer hs656 | enhancer in: forebrain[4/6] -chr10 129892821 129894584 enhancer 0 + 129892821 129894584 0,128,128 enhancer VISTA enhancer hs232 110120846|GeneID:110120846 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/7] VISTA enhancer hs232 | enhancer in: hindbrain (rhombencephalon)[6/7] -chr10 132628524 132633308 enhancer 0 + 132628524 132633308 0,128,128 enhancer VISTA enhancer hs1763 110121444|GeneID:110121444,3632|GeneID:3632 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/5] VISTA enhancer hs1763 | enhancer in: heart[4/5] -chr11 1963841 1966142 enhancer 0 + 1963841 1966142 0,128,128 enhancer VISTA enhancer hs1488 110121378|GeneID:110121378,6150|GeneID:6150 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[11/12] | midbrain (mesencephalon)[10/12] | limb[12/12] | eye[8/12] VISTA enhancer hs1488 | enhancer in: hindbrain (rhombencephalon)[11/12] | midbrain (mesencephalon)[10/12] | limb[12/12] | eye[8/12] -chr11 1986889 1987744 enhancer 0 + 1986889 1987744 0,128,128 enhancer 0.9 kb enhancer fragment 105274310|GeneID:105274310,6150|GeneID:6150 10413100|PMID:10413100 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10413100] 0.9 kb enhancer fragment -chr11 1986889 1991809 enhancer 0 + 1986889 1991809 0,128,128 enhancer 5.0 kb enhancer fragment 105274310|GeneID:105274310,6150|GeneID:6150 9720909|PMID:9720909,10413100|PMID:10413100 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9720909, PMID:10413100] 5.0 kb enhancer fragment -chr11 1987738 1991809 enhancer 0 + 1987738 1991809 0,128,128 enhancer 4.1 kb enhancer fragment 105274310|GeneID:105274310,6150|GeneID:6150 10413100|PMID:10413100 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10413100] 4.1 kb enhancer fragment -chr11 1998744 2000001 enhancer_blocking_element 0 + 1998744 2000001 0,128,128 insulator H19-Ci fragment that includes the A1 repeat, part of the B1 repeat, and CTCF sites 6 and 7 105259599|GeneID:105259599,6150|GeneID:6150 12874112|PMID:12874112 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12874112] strong orientation-dependent enhancer-blocking activity H19-Ci fragment that includes the A1 repeat, part of the B1 repeat, and CTCF sites 6 and 7 | strong orientation-dependent enhancer-blocking activity -chr11 1998744 2003509 imprinting_control_region 0 + 1998744 2003509 0,128,128 regulatory_region 105259599|GeneID:105259599,6150|GeneID:6150 15314640|PMID:15314640,20007505|PMID:20007505 EXISTENCE:mutant phenotype evidence [ECO:0000015][PMID:15314640, PMID:20007505] controls imprinted expression of the H19 and IGF2 genes controls imprinted expression of the H19 and IGF2 genes -chr11 1999036 1999084 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 1999036 1999084 192,0,0 protein_binding_site CTCF site 7, or h7 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 7, or h7 | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 1999433 1999706 direct 0 + 1999433 1999706 0,0,192 repeat_region A1 repeat 105259599|GeneID:105259599,6150|GeneID:6150 10079367|PMID:10079367 EXISTENCE:sequence similarity evidence [ECO:0000044][PMID:10079367] A1 repeat -chr11 1999828 2000245 direct 0 + 1999828 2000245 0,0,192 repeat_region B1 repeat 105259599|GeneID:105259599,6150|GeneID:6150 B1 repeat -chr11 1999828 2002048 enhancer_blocking_element 0 + 1999828 2002048 0,128,128 insulator BglII-EagI fragment containing the B1, B2, B3, B4 and A2 repeats 105259599|GeneID:105259599,6150|GeneID:6150 10839547|PMID:10839547 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10839547] BglII-EagI fragment containing the B1, B2, B3, B4 and A2 repeats -chr11 1999936 2000009 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 1999936 2000009 192,0,0 protein_binding_site CTCF site 6, or h6, or B1 site 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 6, or h6, or B1 site | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 2000115 2001074 enhancer_blocking_element 0 + 2000115 2001074 0,128,128 insulator H19-Bi fragment that includes part of the B1 repeat, the B2 and B3 repeats, and CTCF sites 4 and 5 105259599|GeneID:105259599,6150|GeneID:6150 12874112|PMID:12874112 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12874112] weak enhancer-blocking activity in either orientation H19-Bi fragment that includes part of the B1 repeat, the B2 and B3 repeats, and CTCF sites 4 and 5 | weak enhancer-blocking activity in either orientation -chr11 2000245 2000651 direct 0 + 2000245 2000651 0,0,192 repeat_region B2 repeat 105259599|GeneID:105259599,6150|GeneID:6150 B2 repeat -chr11 2000365 2000413 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 2000365 2000413 192,0,0 protein_binding_site CTCF site 5, or h5 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 5, or h5 | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 2000651 2001058 direct 0 + 2000651 2001058 0,0,192 repeat_region B3 repeat 105259599|GeneID:105259599,6150|GeneID:6150 B3 repeat -chr11 2000771 2000819 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 2000771 2000819 192,0,0 protein_binding_site CTCF site 4, or h4 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 4, or h4 | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 2001058 2001253 direct 0 + 2001058 2001253 0,0,192 repeat_region B4 repeat; partial compared to other B-type repeats 105259599|GeneID:105259599,6150|GeneID:6150 B4 repeat; partial compared to other B-type repeats -chr11 2001684 2001951 direct 0 + 2001684 2001951 0,0,192 repeat_region A2 repeat 105259599|GeneID:105259599,6150|GeneID:6150 10079367|PMID:10079367 EXISTENCE:sequence similarity evidence [ECO:0000044][PMID:10079367] A2 repeat -chr11 2001768 2001811 protein_bind: POU class 5 homeobox 1 0 + 2001768 2001811 192,0,0 protein_binding_site BWS-s043WT-OCT-binding site 1 in the A2 repeat; a Beckwith-Wiedemann syndrome C>T point mutation abrogates binding ability 105259599|GeneID:105259599,6150|GeneID:6150 20007505|PMID:20007505,24299031|PMID:24299031 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24299031, PMID:20007505] maintenance of the maternal allele unmethylated status in early embryogenesis BWS-s043WT-OCT-binding site 1 in the A2 repeat; a Beckwith-Wiedemann syndrome C>T point mutation abrogates binding ability | maintenance of the maternal allele unmethylated status in early embryogenesis | POU class 5 homeobox 1 -chr11 2002048 2003509 enhancer_blocking_element 0 + 2002048 2003509 0,128,128 insulator EagI fragment containing the B5, B6 and B7 repeats 105259599|GeneID:105259599,6150|GeneID:6150 10839547|PMID:10839547 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10839547] EagI fragment containing the B5, B6 and B7 repeats -chr11 2002083 2002485 direct 0 + 2002083 2002485 0,0,192 repeat_region B5 repeat 105259599|GeneID:105259599,6150|GeneID:6150 B5 repeat -chr11 2002085 2003175 enhancer_blocking_element 0 + 2002085 2003175 0,128,128 insulator H19-Ai fragment that includes the B5, B6 and B7 repeats, and CTCF sites 1, 2 and 3 105259599|GeneID:105259599,6150|GeneID:6150 12874112|PMID:12874112 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12874112] reproducible enhancer-blocking activity in either orientation H19-Ai fragment that includes the B5, B6 and B7 repeats, and CTCF sites 1, 2 and 3 | reproducible enhancer-blocking activity in either orientation -chr11 2002204 2002252 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 2002204 2002252 192,0,0 protein_binding_site CTCF site 3, or h3 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 3, or h3 | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 2002485 2002891 direct 0 + 2002485 2002891 0,0,192 repeat_region B6 repeat 105259599|GeneID:105259599,6150|GeneID:6150 B6 repeat -chr11 2002605 2002653 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 2002605 2002653 192,0,0 protein_binding_site CTCF site 2, or h2 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 2, or h2 | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 2002894 2003085 direct 0 + 2002894 2003085 0,0,192 repeat_region B7 repeat; partial compared to other B-type repeats 105259599|GeneID:105259599,6150|GeneID:6150 B7 repeat; partial compared to other B-type repeats -chr11 2003010 2003058 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 2003010 2003058 192,0,0 protein_binding_site CTCF site 1, or h1 105259599|GeneID:105259599,6150|GeneID:6150 12960026|PMID:12960026 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:12960026] binds the unmethylated maternal allele but not the methylated paternal allele CTCF site 1, or h1 | binds the unmethylated maternal allele but not the methylated paternal allele | CCCTC-binding factor (zinc finger protein) -chr11 2161573 2161587 nucleotide_motif 0 + 2161573 2161587 192,0,192 sequence_feature nucleotide motif; C-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; C-type repeat motif -chr11 2161573 2161971 repeat_instability_region 0 + 2161573 2161971 192,0,192 sequence_feature repeat instability region; instability of the VNTR region has been observed in some germline and somatic cells 109623489|GeneID:109623489 10749978|PMID:10749978 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:10749978] repeat instability region; instability of the VNTR region has been observed in some germline and somatic cells -chr11 2161587 2161601 nucleotide_motif 0 + 2161587 2161601 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161601 2161615 nucleotide_motif 0 + 2161601 2161615 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161615 2161629 nucleotide_motif 0 + 2161615 2161629 192,0,192 sequence_feature nucleotide motif; E-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; E-type repeat motif -chr11 2161629 2161643 nucleotide_motif 0 + 2161629 2161643 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161643 2161658 nucleotide_motif 0 + 2161643 2161658 192,0,192 sequence_feature nucleotide motif; B-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; B-type repeat motif -chr11 2161658 2161672 nucleotide_motif 0 + 2161658 2161672 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161672 2161686 nucleotide_motif 0 + 2161672 2161686 192,0,192 sequence_feature nucleotide motif; C-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; C-type repeat motif -chr11 2161686 2161700 nucleotide_motif 0 + 2161686 2161700 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161700 2161714 nucleotide_motif 0 + 2161700 2161714 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161714 2161728 nucleotide_motif 0 + 2161714 2161728 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161729 2161743 nucleotide_motif 0 + 2161729 2161743 192,0,192 sequence_feature nucleotide motif; D-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; D-type repeat motif -chr11 2161743 2161757 nucleotide_motif 0 + 2161743 2161757 192,0,192 sequence_feature nucleotide motif; C-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; C-type repeat motif -chr11 2161757 2161771 nucleotide_motif 0 + 2161757 2161771 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161771 2161785 nucleotide_motif 0 + 2161771 2161785 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161785 2161799 nucleotide_motif 0 + 2161785 2161799 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161799 2161813 nucleotide_motif 0 + 2161799 2161813 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161813 2161827 nucleotide_motif 0 + 2161813 2161827 192,0,192 sequence_feature nucleotide motif; G-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; G-type repeat motif -chr11 2161827 2161841 nucleotide_motif 0 + 2161827 2161841 192,0,192 sequence_feature nucleotide motif; C-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; C-type repeat motif -chr11 2161841 2161856 nucleotide_motif 0 + 2161841 2161856 192,0,192 sequence_feature nucleotide motif; B-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; B-type repeat motif -chr11 2161856 2161870 nucleotide_motif 0 + 2161856 2161870 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161870 2161884 nucleotide_motif 0 + 2161870 2161884 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161884 2161898 nucleotide_motif 0 + 2161884 2161898 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161898 2161913 nucleotide_motif 0 + 2161898 2161913 192,0,192 sequence_feature nucleotide motif; B-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; B-type repeat motif -chr11 2161913 2161927 nucleotide_motif 0 + 2161913 2161927 192,0,192 sequence_feature nucleotide motif; C-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; C-type repeat motif -chr11 2161927 2161942 nucleotide_motif 0 + 2161927 2161942 192,0,192 sequence_feature nucleotide motif; B-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; B-type repeat motif -chr11 2161942 2161956 nucleotide_motif 0 + 2161942 2161956 192,0,192 sequence_feature nucleotide motif; A-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; A-type repeat motif -chr11 2161956 2161971 nucleotide_motif 0 + 2161956 2161971 192,0,192 sequence_feature nucleotide motif; B-type repeat motif 109623489|GeneID:109623489 7035959|PMID:7035959 COORDINATES:manual assertion [ECO:0000218][PMID:7035959] nucleotide motif; B-type repeat motif -chr11 2388378 2389348 enhancer 0 + 2388378 2389348 0,128,128 enhancer 106799843|GeneID:106799843,975|GeneID:975 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr11 2700194 2701434 enhancer 0 + 2700194 2701434 0,128,128 enhancer 106783508|GeneID:106783508,3784|GeneID:3784 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr11 3731686 3731688 mitotic 0 + 3731686 3731688 160,82,45 recombination_feature NUP98 intron 13 (HHEX) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HHEX recombination region 106865369|GeneID:106865369 18388181|PMID:18388181 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:18388181] NUP98 intron 13 (HHEX) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HHEX recombination region -chr11 3731729 3733550 mitotic 0 + 3731729 3733550 160,82,45 recombination_feature NUP98 intron 13 (TOP1) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-TOP1 recombination region 106865369|GeneID:106865369 10959088|PMID:10959088,11979559|PMID:11979559,12874791|PMID:12874791 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12874791, PMID:10959088, PMID:11979559] NUP98 intron 13 (TOP1) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-TOP1 recombination region -chr11 3732531 3732536 mitotic 0 + 3732531 3732536 160,82,45 recombination_feature NUP98 intron 13 (IQCG) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-IQCG recombination region 106865369|GeneID:106865369 18084320|PMID:18084320 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:18084320] NUP98 intron 13 (IQCG) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-IQCG recombination region -chr11 3733992 3733994 mitotic 0 + 3733992 3733994 160,82,45 recombination_feature NUP98 intron 13 (TOP2B) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-TOP2B recombination region 106865369|GeneID:106865369 16166424|PMID:16166424 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:16166424] NUP98 intron 13 (TOP2B) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-TOP2B recombination region -chr11 3739853 3744180 mitotic 0 + 3739853 3744180 160,82,45 recombination_feature NUP98 intron 12 (HOXC11 exon) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the HOXC11 exon 1 recombination sub-region within the NUP98-HOXC11 recombination region 106865369|GeneID:106865369 12183408|PMID:12183408 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12183408] NUP98 intron 12 (HOXC11 exon) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the HOXC11 exon 1 recombination sub-region within the NUP98-HOXC11 recombination region -chr11 3739853 3744508 mitotic 0 + 3739853 3744508 160,82,45 recombination_feature NUP98 intron 12 (HOXC11 intron) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the HOXC11 intron 1 recombination sub-region within the NUP98-HOXC11 recombination region 106865369|GeneID:106865369 12970787|PMID:12970787 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:12970787] NUP98 intron 12 (HOXC11 intron) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the HOXC11 intron 1 recombination sub-region within the NUP98-HOXC11 recombination region -chr11 3741311 3743849 mitotic 0 + 3741311 3743849 160,82,45 recombination_feature NUP98 intron 12 (HOXA11 intron) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HOXA11 recombination region 106865369|GeneID:106865369 11830496|PMID:11830496 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:11830496] NUP98 intron 12 (HOXA11 intron) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HOXA11 recombination region -chr11 3741647 3741699 mitotic 0 + 3741647 3741699 160,82,45 recombination_feature NUP98 intron 12 (HOXD13) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HOXD13 recombination region 106865369|GeneID:106865369 10995009|PMID:10995009 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10995009] NUP98 intron 12 (HOXD13) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HOXD13 recombination region -chr11 3742420 3744508 mitotic 0 + 3742420 3744508 160,82,45 recombination_feature NUP98 intron 12 (HOXA9 and DDX10) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HOXA9 and NUP98-DDX10 recombination regions 106865369|GeneID:106865369 8563753|PMID:8563753 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:8563753] NUP98 intron 12 (HOXA9 and DDX10) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-HOXA9 and NUP98-DDX10 recombination regions -chr11 3743844 3753315 mitotic 0 + 3743844 3753315 160,82,45 recombination_feature NUP98 (NSD3) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-NSD3 recombination region 106865369|GeneID:106865369 11986249|PMID:11986249 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11986249] NUP98 (NSD3) recombination sub-region within the nucleoporin 98kDa recombination region recombines with the NUP98-NSD3 recombination region -chr11 5147153 5159021 enhancer 0 + 5147153 5159021 0,128,128 enhancer 12 kb BglII-HindIII HPFH-2 fragment in transgenes 110011217|GeneID:110011217 9121456|PMID:9121456 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9121456] enables persistent expression of the gamma-globin genes, preferably the Agamma gene, when juxtaposed downstream of those genes in adult erythroid cells of transgenic mice 12 kb BglII-HindIII HPFH-2 fragment in transgenes | enables persistent expression of the gamma-globin genes, preferably the Agamma gene, when juxtaposed downstream of those genes in adult erythroid cells of transgenic mice -chr11 5151265 5152312 enhancer 0 + 5151265 5152312 0,128,128 enhancer 1 kb BamHI-EcoRI HPFH-3D fragment in pgammaCAT constructs 110011217|GeneID:110011217 2478223|PMID:2478223 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2478223] activates the Ggamma-globin promoter in transfected K562 erythroleukemia cells 1 kb BamHI-EcoRI HPFH-3D fragment in pgammaCAT constructs | activates the Ggamma-globin promoter in transfected K562 erythroleukemia cells -chr11 5151866 5152312 DNase_I_hypersensitive_site 0 + 5151866 5152312 0,128,128 region erythroid hypersensitive site 1.1-1.4 kb downstream of the HPFH-1 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); overlaps the HPFH-3D enhancer fragment and the OR52A1 olfactory receptor gene; the nucleotide coordinates are approximate for this feature 110011217|GeneID:110011217 1690839|PMID:1690839 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1690839] erythroid hypersensitive site 1.1-1.4 kb downstream of the HPFH-1 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); overlaps the HPFH-3D enhancer fragment and the OR52A1 olfactory receptor gene; the nucleotide coordinates are approximate for this feature -chr11 5153220 5153222 chromosome_breakpoint 0 + 5153220 5153222 160,82,45 recombination_feature HPFH-1 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the deletion removes approximately 105 kb of DNA and inserts 5 nts (AAATA) at this position 110011217|GeneID:110011217 2478223|PMID:2478223 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2478223] HPFH-1 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the deletion removes approximately 105 kb of DNA and inserts 5 nts (AAATA) at this position -chr11 5153520 5153920 DNase_I_hypersensitive_site 0 + 5153520 5153920 0,128,128 region non-erythroid-specific hypersensitive site 0.5 kb upstream of the HPFH-1 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the nucleotide coordinates are approximate for this feature 110011217|GeneID:110011217 1690839|PMID:1690839 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1690839] non-erythroid-specific hypersensitive site 0.5 kb upstream of the HPFH-1 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the nucleotide coordinates are approximate for this feature -chr11 5155843 5156557 enhancer 0 + 5155843 5156557 0,128,128 enhancer 0.7 kb ScaI-NruI HPFH-2 fragment in plasmid or retroviral constructs and transgenes 110011217|GeneID:110011217 15944728|PMID:15944728,21875313|PMID:21875313 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:15944728, PMID:21875313] enables persistent expression of the gamma-globin genes in adult erythroid cells 0.7 kb ScaI-NruI HPFH-2 fragment in plasmid or retroviral constructs and transgenes | enables persistent expression of the gamma-globin genes in adult erythroid cells -chr11 5159175 5159177 chromosome_breakpoint 0 + 5159175 5159177 160,82,45 recombination_feature HPFH-2 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the deletion removes approximately 105 kb of DNA 110011217|GeneID:110011217 2307466|PMID:2307466 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2307466] HPFH-2 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the deletion removes approximately 105 kb of DNA -chr11 5159866 5160466 DNase_I_hypersensitive_site 0 + 5159866 5160466 0,128,128 region fetal liver-derived erythroid hypersensitive site 1 kb upstream of the HPFH-2 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the nucleotide coordinates are approximate for this feature 110011217|GeneID:110011217 1690839|PMID:1690839 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1690839] fetal liver-derived erythroid hypersensitive site 1 kb upstream of the HPFH-2 deletion 3' breakpoint (minus strand with respect to the GRCh38 reference genome); the nucleotide coordinates are approximate for this feature -chr11 5170744 5172221 enhancer 0 + 5170744 5172221 0,128,128 enhancer 1.5 kb EcoRI-BglII fragment in the LCR-Agamma-HPFH-6 transgene 110013311|GeneID:110013311 9272169|PMID:9272169 COORDINATES:manual assertion [ECO:0000218][PMID:9272169] enables persistent expression of the Agamma-globin gene when juxtaposed with it in adult blood of transgenic mice 1.5 kb EcoRI-BglII fragment in the LCR-Agamma-HPFH-6 transgene | enables persistent expression of the Agamma-globin gene when juxtaposed with it in adult blood of transgenic mice -chr11 5193633 5194416 retrotransposon:LTR12D 0 + 5193633 5194416 0,0,192 mobile_genetic_element 3' beta LTR similar to the ERV-9 enhancer upstream of 5'HS5 110008579|GeneID:110008579 9878258|PMID:9878258 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:9878258] 3' beta LTR similar to the ERV-9 enhancer upstream of 5'HS5 -chr11 5193709 5194446 enhancer 0 + 5193709 5194446 0,128,128 enhancer 0.7 kb HphI fragment F1 or core HPFH-3 enhancer fragment 110008579|GeneID:110008579 7537267|PMID:7537267,16720553|PMID:16720553 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7537267, PMID:16720553] activates embryonic and fetal globin gene promoters when juxtaposed next to them in transfected erythroid cells or transgenic mice 0.7 kb HphI fragment F1 or core HPFH-3 enhancer fragment | activates embryonic and fetal globin gene promoters when juxtaposed next to them in transfected erythroid cells or transgenic mice -chr11 5203870 5207626 matrix_attachment_region 0 + 5203870 5207626 0,128,128 region matrix attachment region; scaffold-associated region; SAR 105180392|GeneID:105180392 8490185|PMID:8490185 EXISTENCE:fractionation evidence [ECO:0000100][PMID:8490185] matrix attachment region; scaffold-associated region; SAR -chr11 5204097 5206368 DNase_I_hypersensitive_site 0 + 5204097 5206368 0,128,128 region 3'HS1, includes at least three sub-sites; the nucleotide coordinates are approximate for this feature 105180392|GeneID:105180392 8490185|PMID:8490185 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8490185] 3'HS1, includes at least three sub-sites; the nucleotide coordinates are approximate for this feature -chr11 5204938 5205010 enhancer_blocking_element 0 + 5204938 5205010 0,128,128 insulator 105180392|GeneID:105180392 11997516|PMID:11997516 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11997516] insulator -chr11 5204965 5204981 protein_bind: CCCTC-binding factor 0 + 5204965 5204981 192,0,0 protein_binding_site core CTCF-binding site 105180392|GeneID:105180392 11997516|PMID:11997516 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11997516] enhancer-blocking activity core CTCF-binding site | enhancer-blocking activity | CCCTC-binding factor -chr11 5206189 5206219 protein_bind: nuclear factor, erythroid 2 0 + 5206189 5206219 192,0,0 protein_binding_site AP-1/NF-E2 binding site 105180392|GeneID:105180392 8490185|PMID:8490185 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8490185] AP-1/NF-E2 binding site | nuclear factor, erythroid 2 -chr11 5222165 5227006 rep_origin: IR (initiation region) 0 + 5222165 5227006 0,0,0 origin_of_replication IR (initiation region); spanning amplicons 59.8 to 65.6; identified by PCR analysis or hybridization of BrdU-labelled nascent strands with strand-specific probes 107133510|GeneID:107133510 7481774|PMID:7481774 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:7481774] IR (initiation region); spanning amplicons 59.8 to 65.6; identified by PCR analysis or hybridization of BrdU-labelled nascent strands with strand-specific probes -chr11 5222929 5223428 matrix_attachment_region 0 + 5222929 5223428 0,128,128 region 3'beta SAR; inferred minimal region flanked by DdeI and BglII restriction sites 107133510|GeneID:107133510 2559410|PMID:2559410,3208739|PMID:3208739 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2559410, PMID:3208739] associates with nuclear scaffold 3'beta SAR; inferred minimal region flanked by DdeI and BglII restriction sites | associates with nuclear scaffold -chr11 5223774 5225457 rep_origin: bGRep-E 0 + 5223774 5225457 0,0,0 origin_of_replication bGRep-E; EcoRV/SwaI fragment; assayed by quantitative PCR of lambda exonuclease treated size-fractionated nascent strands; functions as an origin of replication in an ectopic location 107133510|GeneID:107133510 16085752|PMID:16085752 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16085752] bGRep-E; EcoRV/SwaI fragment; assayed by quantitative PCR of lambda exonuclease treated size-fractionated nascent strands; functions as an origin of replication in an ectopic location -chr11 5223778 5227023 rep_origin: bGRep-I 0 + 5223778 5227023 0,0,0 origin_of_replication bGRep-I; NcoI fragment; assayed by quantitative PCR of lambda exonuclease treated size-fractionated nascent strands; functions as an origin of replication in ectopic locations 107133510|GeneID:107133510 15060158|PMID:15060158 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:15060158] bGRep-I; NcoI fragment; assayed by quantitative PCR of lambda exonuclease treated size-fractionated nascent strands; functions as an origin of replication in ectopic locations -chr11 5223779 5224891 enhancer 0 + 5223779 5224891 0,128,128 enhancer 1.1 kb HpaII-XbaI fragment deleted in the GB-SH-E transgene 110006319|GeneID:110006319 2304460|PMID:2304460 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:2304460] enhances expression of a G-gamma-beta hybrid transgene 25-fold in mouse embryonic blood cells 1.1 kb HpaII-XbaI fragment deleted in the GB-SH-E transgene | enhances expression of a G-gamma-beta hybrid transgene 25-fold in mouse embryonic blood cells -chr11 5223979 5225041 enhancer 0 + 5223979 5225041 0,128,128 enhancer 1.06 kb BstNI fragment a 110006319|GeneID:110006319 2828176|PMID:2828176 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:2828176] activates transcription of a G-gamma-globin promoter transgene in mouse fetal liver 1.06 kb BstNI fragment a | activates transcription of a G-gamma-globin promoter transgene in mouse fetal liver -chr11 5224440 5224940 DNase_I_hypersensitive_site 0 + 5224440 5224940 0,128,128 region beta-globin 3' enhancer hypersensitive site; the nucleotide coordinates are approximate for this feature 110006319|GeneID:110006319 6200877|PMID:6200877 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:6200877] beta-globin 3' enhancer hypersensitive site; the nucleotide coordinates are approximate for this feature -chr11 5224440 5224940 DNase_I_hypersensitive_site 0 + 5224440 5224940 0,128,128 region hypersensitive site that overlaps the 3' exon of the beta-globin gene; the nucleotide coordinates are approximate for this feature 110006319|GeneID:110006319 6200877|PMID:6200877 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:6200877] hypersensitive site that overlaps the 3' exon of the beta-globin gene; the nucleotide coordinates are approximate for this feature -chr11 5224645 5224910 replication_regulatory_region 0 + 5224645 5224910 0,128,128 region PstI fragment for 3' enhancer; does not have origin activity by itself in a transgene 107133510|GeneID:107133510 16085752|PMID:16085752 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16085752] important for replication origin activity PstI fragment for 3' enhancer; does not have origin activity by itself in a transgene | important for replication origin activity -chr11 5224650 5224909 enhancer 0 + 5224650 5224909 0,128,128 enhancer 0.26 kb PstI fragment in relevant transgenes 110006319|GeneID:110006319 3478680|PMID:3478680,8990180|PMID:8990180,10807795|PMID:10807795 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8990180, PMID:3478680, PMID:10807795] necessary for expression of the HBB gene in a YAC transgene in fetal liver and adult spleen; activates an A-gamma-globin marker transgene in fetal liver and shows an additive effect with an intron 2/exon 3 HBB enhancer element; required for LCR activity by 5'HS3 in beta-gamma hybrid transgenes 0.26 kb PstI fragment in relevant transgenes | necessary for expression of the HBB gene in a YAC transgene in fetal liver and adult spleen; activates an A-gamma-globin marker transgene in fetal liver and shows an additive effect with an intron 2/exon 3 HBB enhancer element; required for LCR activity by 5'HS3 in beta-gamma hybrid transgenes -chr11 5224650 5224909 replication_regulatory_region 0 + 5224650 5224909 0,128,128 region 0.26 kb PstI fragment deleted in the deltaP construct 110006319|GeneID:110006319 16085752|PMID:16085752 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16085752] required but not sufficient for replication at the IR origin 0.26 kb PstI fragment deleted in the deltaP construct | required but not sufficient for replication at the IR origin -chr11 5224659 5224899 rep_origin: amplicon 7 0 + 5224659 5224899 0,0,0 origin_of_replication amplicon 7; peak of nascent strand synthesis detected by quantitative PCR of lambda exonuclease treated nascent strands 107133510|GeneID:107133510 16085752|PMID:16085752 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16085752] amplicon 7; peak of nascent strand synthesis detected by quantitative PCR of lambda exonuclease treated nascent strands -chr11 5224668 5224694 protein_bind: GATA binding protein 1 0 + 5224668 5224694 192,0,0 protein_binding_site oligo D NF-E1-binding fragment 110006319|GeneID:110006319 2461328|PMID:2461328,2911469|PMID:2911469 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2461328, PMID:2911469] oligo D NF-E1-binding fragment | GATA binding protein 1 -chr11 5224703 5224733 protein_bind: GATA binding protein 1 0 + 5224703 5224733 192,0,0 protein_binding_site oligo C NF-E1-binding fragment 110006319|GeneID:110006319 2461328|PMID:2461328,2911469|PMID:2911469 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2461328, PMID:2911469] oligo C NF-E1-binding fragment | GATA binding protein 1 -chr11 5224756 5224782 protein_bind: GATA binding protein 1 0 + 5224756 5224782 192,0,0 protein_binding_site oligo B NF-E1-binding fragment 110006319|GeneID:110006319 2461328|PMID:2461328,2911469|PMID:2911469 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2461328, PMID:2911469] oligo B NF-E1-binding fragment | GATA binding protein 1 -chr11 5224871 5224897 protein_bind: GATA binding protein 1 0 + 5224871 5224897 192,0,0 protein_binding_site oligo A NF-E1-binding fragment 110006319|GeneID:110006319 2461328|PMID:2461328,2911469|PMID:2911469 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2461328, PMID:2911469] oligo A NF-E1-binding fragment | GATA binding protein 1 -chr11 5224909 5226590 enhancer 0 + 5224909 5226590 0,128,128 enhancer 1.7 kb BamHI-PstI transgene fragment that includes intron 2 and exon 3 of the beta gene 110006319|GeneID:110006319 3478680|PMID:3478680 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:3478680] activates an A-gamma-globin marker transgene in fetal liver and shows an additive effect with the beta 3' enhancer 1.7 kb BamHI-PstI transgene fragment that includes intron 2 and exon 3 of the beta gene | activates an A-gamma-globin marker transgene in fetal liver and shows an additive effect with the beta 3' enhancer -chr11 5225471 5228126 replication_regulatory_region 0 + 5225471 5228126 0,128,128 region core replicator region (position 61100 to position 63754 of J00179) 107133510|GeneID:107133510 9703500|PMID:9703500 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:9703500] required but not sufficient for replication origin activity in a transgene in an ectopic location core replicator region (position 61100 to position 63754 of J00179) | required but not sufficient for replication origin activity in a transgene in an ectopic location -chr11 5225672 5226600 replication_regulatory_region 0 + 5225672 5226600 0,128,128 region Rep-I-1 (PmlI/EcoRI fragment) 107133510|GeneID:107133510 15060158|PMID:15060158 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:15060158] important for replication origin activity Rep-I-1 (PmlI/EcoRI fragment) | important for replication origin activity -chr11 5225672 5229620 rep_origin: HindIII/EcoRI fragment 0 + 5225672 5229620 0,0,0 origin_of_replication HindIII/EcoRI fragment; confers replication activity to a human artificial chromosome (HAC) 107133510|GeneID:107133510 9892678|PMID:9892678 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:9892678] HindIII/EcoRI fragment; confers replication activity to a human artificial chromosome (HAC) -chr11 5225673 5226590 enhancer 0 + 5225673 5226590 0,128,128 enhancer 0.9 kb EcoRI-BamHI fragment spanning intron 2; region deleted in the H2beta-IVS2 construct 110006319|GeneID:110006319 3432265|PMID:3432265 EXISTENCE:deletion mutation evidence [ECO:0005510][PMID:3432265] required for LCR activity by 5'HS3 along with the beta 3' enhancer in beta-gamma hybrid transgenes; increases inducibility of the beta-globin gene in transfected MEL cells 0.9 kb EcoRI-BamHI fragment spanning intron 2; region deleted in the H2beta-IVS2 construct | required for LCR activity by 5'HS3 along with the beta 3' enhancer in beta-gamma hybrid transgenes; increases inducibility of the beta-globin gene in transfected MEL cells -chr11 5225915 5226716 DNase_I_hypersensitive_site 0 + 5225915 5226716 0,128,128 region the nucleotide coordinates are approximate for this feature 107133510|GeneID:107133510 12397609|PMID:12397609 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:12397609] the nucleotide coordinates are approximate for this feature -chr11 5226073 5226590 matrix_attachment_region 0 + 5226073 5226590 0,128,128 region beta-IVS2 SAR 110006319|GeneID:110006319 2559410|PMID:2559410,3208739|PMID:3208739 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2559410, PMID:3208739] associates with nuclear scaffold beta-IVS2 SAR | associates with nuclear scaffold -chr11 5226073 5226590 matrix_attachment_region 0 + 5226073 5226590 0,128,128 region beta-IVS2 SAR; inferred minimal region flanked by DraI and EcoRI restriction sites 107133510|GeneID:107133510 2559410|PMID:2559410,3208739|PMID:3208739 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2559410, PMID:3208739] associates with nuclear scaffold beta-IVS2 SAR; inferred minimal region flanked by DraI and EcoRI restriction sites | associates with nuclear scaffold -chr11 5226263 5226513 replication_regulatory_region 0 + 5226263 5226513 0,128,128 region delta((AG) and(AT)) region; includes RepI-1(AG) 107133510|GeneID:107133510 16877501|PMID:16877501 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16877501] contributes to replication origin activity delta((AG) and(AT)) region; includes RepI-1(AG) | contributes to replication origin activity -chr11 5226569 5226627 non_allelic_homologous 0 + 5226569 5226627 160,82,45 recombination_feature sub-region HBB Lepore-Boston-Washington, recombines with sub-region HBD Lepore-Boston-Washington within the HBD recombination region 106099062|GeneID:106099062 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBB Lepore-Boston-Washington, recombines with sub-region HBD Lepore-Boston-Washington within the HBD recombination region -chr11 5226595 5228626 rep_origin: region containing bidirectional origin of replication between H and I probe fragments 0 + 5226595 5228626 0,0,0 origin_of_replication region containing bidirectional origin of replication between H and I probe fragments; flanked by BamHI and BglII restriction sites; identified by hybridization of BrdU-labelled nascent strands with strand-specific probes 107133510|GeneID:107133510 8255298|PMID:8255298 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:8255298] region containing bidirectional origin of replication between H and I probe fragments; flanked by BamHI and BglII restriction sites; identified by hybridization of BrdU-labelled nascent strands with strand-specific probes -chr11 5226610 5227006 rep_origin: hbetaG amplicon 0 + 5226610 5227006 0,0,0 origin_of_replication hbetaG amplicon; peak of nascent strand synthesis identified by competitive PCR 107133510|GeneID:107133510 10891496|PMID:10891496 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10891496] hbetaG amplicon; peak of nascent strand synthesis identified by competitive PCR -chr11 5226630 5226648 non_allelic_homologous 0 + 5226630 5226648 160,82,45 recombination_feature sub-region HBB Lepore-Kenya, recombines with sub-region HBD Lepore-Kenya within the HBG1 recombination region 106099062|GeneID:106099062 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBB Lepore-Kenya, recombines with sub-region HBD Lepore-Kenya within the HBG1 recombination region -chr11 5226637 5226684 non_allelic_homologous 0 + 5226637 5226684 160,82,45 recombination_feature sub-region HBB Lepore-Baltimore, recombines with sub-region HBD Lepore-Baltimore within the HBD recombination region 106099062|GeneID:106099062 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBB Lepore-Baltimore, recombines with sub-region HBD Lepore-Baltimore within the HBD recombination region -chr11 5226641 5226795 non_allelic_homologous 0 + 5226641 5226795 160,82,45 recombination_feature sub-region HBB Lepore-ARUP, recombines with sub-region HBD Lepore-ARUP within the HBD recombination region 106099062|GeneID:106099062 23001912|PMID:23001912 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23001912] sub-region HBB Lepore-ARUP, recombines with sub-region HBD Lepore-ARUP within the HBD recombination region -chr11 5226882 5228834 meiotic 0 + 5226882 5228834 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B, and PRDM9 A/C genotypes 106099062|GeneID:106099062 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B, and PRDM9 A/C genotypes -chr11 5226914 5226953 non_allelic_homologous 0 + 5226914 5226953 160,82,45 recombination_feature sub-region HBB Lepore-Hollandia, recombines with HBD Lepore-Hollandia within the HBD recombination region 106099062|GeneID:106099062 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBB Lepore-Hollandia, recombines with HBD Lepore-Hollandia within the HBD recombination region -chr11 5226957 5226973 nucleotide_motif 0 + 5226957 5226973 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106099062|GeneID:106099062 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr11 5226985 5227366 rep_origin: hubetaPr1 amplicon 0 + 5226985 5227366 0,0,0 origin_of_replication hubetaPr1 amplicon; peak of nascent strand synthesis identified by competitive PCR of lambda exonuclease treated nascent strands 107133510|GeneID:107133510 10891496|PMID:10891496 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10891496] hubetaPr1 amplicon; peak of nascent strand synthesis identified by competitive PCR of lambda exonuclease treated nascent strands -chr11 5227017 5227339 replication_regulatory_region 0 + 5227017 5227339 0,128,128 region Rep-P-2 (NcoI/SnaBI fragment) 107133510|GeneID:107133510 15060158|PMID:15060158 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:15060158] important for replication origin activity Rep-P-2 (NcoI/SnaBI fragment) | important for replication origin activity -chr11 5227017 5229620 rep_origin: bGRep-P 0 + 5227017 5229620 0,0,0 origin_of_replication bGRep-P; NcoI fragment; assayed by quantitative PCR of lambda exonuclease treated size-fractionated nascent strands; functions as an origin of replication in ectopic locations 107133510|GeneID:107133510 15060158|PMID:15060158 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:15060158] bGRep-P; NcoI fragment; assayed by quantitative PCR of lambda exonuclease treated size-fractionated nascent strands; functions as an origin of replication in ectopic locations -chr11 5227089 5227134 replication_regulatory_region 0 + 5227089 5227134 0,128,128 region Rep-P(AG) 107133510|GeneID:107133510 15060158|PMID:15060158,16877501|PMID:16877501 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:15060158, PMID:16877501] contributes to replication origin activity Rep-P(AG) | contributes to replication origin activity -chr11 5228527 5229328 replication_regulatory_region 0 + 5228527 5229328 0,128,128 region Rep-P-1 (BamHI fragment) 107133510|GeneID:107133510 15060158|PMID:15060158 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:15060158] important for replication origin activity Rep-P-1 (BamHI fragment) | important for replication origin activity -chr11 5233983 5234041 non_allelic_homologous 0 + 5233983 5234041 160,82,45 recombination_feature sub-region HBD Lepore-Boston-Washington, recombines with sub-region HBB Lepore-Boston-Washington within the HBB recombination region 106099063|GeneID:106099063 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBD Lepore-Boston-Washington, recombines with sub-region HBB Lepore-Boston-Washington within the HBB recombination region -chr11 5234051 5234098 non_allelic_homologous 0 + 5234051 5234098 160,82,45 recombination_feature sub-region HBD Lepore-Baltimore, recombines with sub-region HBB Lepore-Baltimore within the HBB recombination region 106099063|GeneID:106099063 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBD Lepore-Baltimore, recombines with sub-region HBB Lepore-Baltimore within the HBB recombination region -chr11 5234153 5234211 non_allelic_homologous 0 + 5234153 5234211 160,82,45 recombination_feature sub-region HBD Lepore-ARUP, recombines with sub-region HBB Lepore-ARUP within the HBB recombination region 106099063|GeneID:106099063 23001912|PMID:23001912 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23001912] sub-region HBD Lepore-ARUP, recombines with sub-region HBB Lepore-ARUP within the HBB recombination region -chr11 5234326 5234365 non_allelic_homologous 0 + 5234326 5234365 160,82,45 recombination_feature sub-region HBD Lepore-Hollandia, recombines with sub-region HBB Lepore-Hollandia within the HBB recombination region 106099063|GeneID:106099063 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBD Lepore-Hollandia, recombines with sub-region HBB Lepore-Hollandia within the HBB recombination region -chr11 5234432 5235258 promoter 0 + 5234432 5235258 0,128,128 promoter 826 bp promoter fragment in the p-Ndelta-luc construct 109951029|GeneID:109951029 22641479|PMID:22641479 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22641479] promoter for delta-globin (HBD) gene 826 bp promoter fragment in the p-Ndelta-luc construct | promoter for delta-globin (HBD) gene -chr11 5234472 5234929 promoter 0 + 5234472 5234929 0,128,128 promoter -446 to +11 delta-globin promoter fragment 109951029|GeneID:109951029 1515647|PMID:1515647 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1515647] promoter for delta-globin (HBD) gene -446 to +11 delta-globin promoter fragment | promoter for delta-globin (HBD) gene -chr11 5234543 5234573 protein_bind: GATA binding protein 1 0 + 5234543 5234573 192,0,0 protein_binding_site DNOR GATA-1-binding oligonucleotide 109951029|GeneID:109951029 1515647|PMID:1515647 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1515647] necessary for normal delta-globin promoter activity DNOR GATA-1-binding oligonucleotide | necessary for normal delta-globin promoter activity | GATA binding protein 1 -chr11 5234547 5234583 transcriptional_cis_regulatory_region 0 + 5234547 5234583 0,128,128 region wild-type delta-globin promoter region with a defective CACCC box and a partial EKLF-binding site; promoter activity can be upregulated by restoration of the CCAAT box or by insertion of CACCC motifs 109951029|GeneID:109951029 8916973|PMID:8916973,9207479|PMID:9207479 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8916973, PMID:9207479] reduces activity of the delta-globin (HBD) promoter compared to the equivalent region of the paralogous beta-globin (HBB) gene wild-type delta-globin promoter region with a defective CACCC box and a partial EKLF-binding site; promoter activity can be upregulated by restoration of the CCAAT box or by insertion of CACCC motifs | reduces activity of the delta-globin (HBD) promoter compared to the equivalent region of the paralogous beta-globin (HBB) gene -chr11 5234555 5234561 transcriptional_cis_regulatory_region 0 + 5234555 5234561 0,128,128 region GATA-1 motif that shows impaired delta-globin promoter activity when mutated 109951029|GeneID:109951029 1515647|PMID:1515647 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1515647] necessary for GATA-1 binding and normal delta-globin promoter activity GATA-1 motif that shows impaired delta-globin promoter activity when mutated | necessary for GATA-1 binding and normal delta-globin promoter activity -chr11 5235195 5235704 transcriptional_cis_regulatory_region 0 + 5235195 5235704 0,128,128 region 0.5 kb BsaBI-BsmI fragment removed in the delta transgene 109951029|GeneID:109951029 9892636|PMID:9892636 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9892636] facilitates the timing of but is not absolutely required for gamma-to-beta globin gene switching in transgenic mice 0.5 kb BsaBI-BsmI fragment removed in the delta transgene | facilitates the timing of but is not absolutely required for gamma-to-beta globin gene switching in transgenic mice -chr11 5235322 5235705 enhancer 0 + 5235322 5235705 0,128,128 enhancer 383 bp Sau3AI fragment in the pbeta-cat-delta383 construct; includes the entire pyrimidine-rich sequence and the GATA-1 binding site 109951029|GeneID:109951029 8654951|PMID:8654951 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8654951] enhances beta-globin promoter activity in transfected MEL cells 383 bp Sau3AI fragment in the pbeta-cat-delta383 construct; includes the entire pyrimidine-rich sequence and the GATA-1 binding site | enhances beta-globin promoter activity in transfected MEL cells -chr11 5235379 5235679 misc_structure: DNA_sequence_secondary_structure 0 + 5235379 5235679 0,0,0 sequence_secondary_structure DNA_sequence_secondary_structure; likely H-DNA structure that is sensitive to S1 nuclease digestion; includes a 250-bp region with >95% pyrimidines on the negative strand of the GRCh38 reference genome; binds to PYR complex 109951029|GeneID:109951029 1717993|PMID:1717993 EXISTENCE:in vitro cleavage assay evidence [ECO:0001058][PMID:1717993] DNA_sequence_secondary_structure; likely H-DNA structure that is sensitive to S1 nuclease digestion; includes a 250-bp region with >95% pyrimidines on the negative strand of the GRCh38 reference genome; binds to PYR complex -chr11 5235388 5235487 enhancer 0 + 5235388 5235487 0,128,128 enhancer 99 bp fragment in the pbeta-cat-delta99 construct; includes the PYR binding region but not the GATA-1 binding site 109951029|GeneID:109951029 8654951|PMID:8654951 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8654951] enhances beta-globin promoter activity in transfected MEL cells 99 bp fragment in the pbeta-cat-delta99 construct; includes the PYR binding region but not the GATA-1 binding site | enhances beta-globin promoter activity in transfected MEL cells -chr11 5235414 5235474 protein_bind: YY1 transcription factor 0 + 5235414 5235474 192,0,0 protein_binding_site delta60 YY1-binding probe 109951029|GeneID:109951029 9892636|PMID:9892636 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9892636] delta60 YY1-binding probe | YY1 transcription factor -chr11 5235666 5235675 protein_bind: GATA binding protein 1 0 + 5235666 5235675 192,0,0 protein_binding_site GATA-1 footprint in pyr region 109951029|GeneID:109951029 1717993|PMID:1717993 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:1717993] GATA-1 footprint in pyr region | GATA binding protein 1 -chr11 5236881 5239383 enhancer 0 + 5236881 5239383 0,128,128 enhancer 2.5 kb BglII fragment deleted in the delta-2.5 kb YAC transgene; includes the pyr and R regions 109951029|GeneID:109951029 10022837|PMID:10022837,10882078|PMID:10882078 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:10022837, PMID:10882078] necessary for efficient beta-globin (HBB) gene expression in transgenic mice; may also protect the transgene against position effects in fetal liver 2.5 kb BglII fragment deleted in the delta-2.5 kb YAC transgene; includes the pyr and R regions | necessary for efficient beta-globin (HBB) gene expression in transgenic mice; may also protect the transgene against position effects in fetal liver -chr11 5236883 5237538 silencer 0 + 5236883 5237538 0,128,128 silencer 0.65 kb F5 fragment in the betaCAT, gammaCAT and gamma-175CAT constructs 109951029|GeneID:109951029 7524502|PMID:7524502,11783950|PMID:11783950 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7524502, PMID:11783950] strongly down-regulates the beta-globin promoter in transfected MEL cells, and the wild-type gamma-globin promoter in HEL cells 0.65 kb F5 fragment in the betaCAT, gammaCAT and gamma-175CAT constructs | strongly down-regulates the beta-globin promoter in transfected MEL cells, and the wild-type gamma-globin promoter in HEL cells -chr11 5236883 5237962 silencer 0 + 5236883 5237962 0,128,128 silencer 1 kb F3 fragment in the betaCAT, gammaCAT and gamma-175CAT constructs 109951029|GeneID:109951029 7524502|PMID:7524502,11783950|PMID:11783950 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7524502, PMID:11783950] moderately down-regulates the gamma- and beta-globin promoters in transfected MEL cells, and the wild-type gamma promoter in HEL cells 1 kb F3 fragment in the betaCAT, gammaCAT and gamma-175CAT constructs | moderately down-regulates the gamma- and beta-globin promoters in transfected MEL cells, and the wild-type gamma promoter in HEL cells -chr11 5236883 5238501 silencer 0 + 5236883 5238501 0,128,128 silencer 1.7 kb R fragment in the betaCAT, gammaCAT and gamma-175CAT constructs 109951029|GeneID:109951029 7524502|PMID:7524502,11783950|PMID:11783950 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7524502, PMID:11783950] negatively regulates the gamma- and beta-globin promoters in transfected MEL cells, and the gamma promoter in HEL cells 1.7 kb R fragment in the betaCAT, gammaCAT and gamma-175CAT constructs | negatively regulates the gamma- and beta-globin promoters in transfected MEL cells, and the gamma promoter in HEL cells -chr11 5237104 5237142 protein_bind: GATA binding protein 1 0 + 5237104 5237142 192,0,0 protein_binding_site oligo 38 ALUdelta-2 GATA-1-binding probe 109951029|GeneID:109951029 11783950|PMID:11783950 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11783950] oligo 38 ALUdelta-2 GATA-1-binding probe | GATA binding protein 1 -chr11 5237386 5237438 protein_bind: GATA binding protein 1 0 + 5237386 5237438 192,0,0 protein_binding_site 51-bp GATA-1-binding oligo 109951029|GeneID:109951029 11783950|PMID:11783950 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11783950] 51-bp GATA-1-binding oligo | GATA binding protein 1 -chr11 5238129 5238167 protein_bind: GATA binding protein 1 0 + 5238129 5238167 192,0,0 protein_binding_site oligo 38 ALUdelta-1 GATA-1-binding probe 109951029|GeneID:109951029 11783950|PMID:11783950 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11783950] oligo 38 ALUdelta-1 GATA-1-binding probe | GATA binding protein 1 -chr11 5245526 5247879 enhancer 0 + 5245526 5247879 0,128,128 enhancer 2.3 kb EcoRI fragment 11 109951028|GeneID:109951028 3691478|PMID:3691478 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:3691478] enhances G-gamma-globin promoter activity in transfected K562, HEL, HeLa and 293 cells 2.3 kb EcoRI fragment 11 | enhances G-gamma-globin promoter activity in transfected K562, HEL, HeLa and 293 cells -chr11 5246293 5246663 silencer 0 + 5246293 5246663 0,128,128 silencer F element 109951028|GeneID:109951028 15102485|PMID:15102485 COORDINATES:manual assertion [ECO:0000218][PMID:15102485] negatively regulates the Rous Sarcoma Virus LTR promoter in transfected K562 erythroleukemia cells F element | negatively regulates the Rous Sarcoma Virus LTR promoter in transfected K562 erythroleukemia cells -chr11 5246293 5247897 silencer 0 + 5246293 5247897 0,128,128 silencer 1.6 kb fragment containing the Enh and F elements that are deleted in the delta-Enh/F transgene; note that this region does not appear to be necessary when deleted in the context of a YAC transgene (PMIDs 9707580 and 12629213) 109951028|GeneID:109951028 15102485|PMID:15102485,19690621|PMID:19690621 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:15102485, PMID:19690621] necessary for down-regulating the epsilon- and gamma-globin genes in embryonic yolk sac of transgenic mice, but not for fetal to adult beta-globin gene switching; also silences fetal gamma-globin expression in adult transgenic mice 1.6 kb fragment containing the Enh and F elements that are deleted in the delta-Enh/F transgene; note that this region does not appear to be necessary when deleted in the context of a YAC transgene (PMIDs 9707580 and 12629213) | necessary for down-regulating the epsilon- and gamma-globin genes in embryonic yolk sac of transgenic mice, but not for fetal to adult beta-globin gene switching; also silences fetal gamma-globin expression in adult transgenic mice -chr11 5246394 5248345 DNase_I_hypersensitive_site 0 + 5246394 5248345 0,128,128 region A-gamma 3' DNase I hypersensitive region that includes three sub-bands (B, C and D); observed in erythroleukemia K562 cells but not in promyelocytic HL60 or monocytoid U937 cells; the nucleotide coordinates are approximate for this feature 109951028|GeneID:109951028 3691478|PMID:3691478 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:3691478] A-gamma 3' DNase I hypersensitive region that includes three sub-bands (B, C and D); observed in erythroleukemia K562 cells but not in promyelocytic HL60 or monocytoid U937 cells; the nucleotide coordinates are approximate for this feature -chr11 5247135 5247879 enhancer 0 + 5247135 5247879 0,128,128 enhancer 0.75 kb EcoRI/HindIII enhancer fragment 109951028|GeneID:109951028 3691478|PMID:3691478 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:3691478] enhances G-gamma-globin promoter activity in transfected K562 cells 0.75 kb EcoRI/HindIII enhancer fragment | enhances G-gamma-globin promoter activity in transfected K562 cells -chr11 5247143 5247897 silencer 0 + 5247143 5247897 0,128,128 silencer Enh element 109951028|GeneID:109951028 15102485|PMID:15102485 COORDINATES:manual assertion [ECO:0000218][PMID:15102485] negatively regulates the Rous Sarcoma Virus LTR promoter in transfected K562 erythroleukemia cells Enh element | negatively regulates the Rous Sarcoma Virus LTR promoter in transfected K562 erythroleukemia cells -chr11 5247310 5247888 insulator 0 + 5247310 5247888 0,128,128 region 0.6 kb NciI-HindIII minimal fragment necessary for protecting transgenes with a micro-LCR against position effects 109951028|GeneID:109951028 8972204|PMID:8972204 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8972204] shelters gamma-globin expression from position effects in transgenes with a micro-LCR 0.6 kb NciI-HindIII minimal fragment necessary for protecting transgenes with a micro-LCR against position effects | shelters gamma-globin expression from position effects in transgenes with a micro-LCR -chr11 5247334 5247360 protein_bind: GATA binding protein 1 0 + 5247334 5247360 192,0,0 protein_binding_site footprint VII GATA-1-binding fragment 109951028|GeneID:109951028 2259631|PMID:2259631 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2259631] footprint VII GATA-1-binding fragment | GATA binding protein 1 -chr11 5247418 5247445 protein_bind: GATA binding protein 1 0 + 5247418 5247445 192,0,0 protein_binding_site footprint V GATA-1-binding fragment 109951028|GeneID:109951028 2259631|PMID:2259631 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2259631] footprint V GATA-1-binding fragment | GATA binding protein 1 -chr11 5247488 5247585 protein_bind: homeobox B2 0 + 5247488 5247585 192,0,0 protein_binding_site RsaI-AvaII 3'gammaPE2 fragment that binds both SATB1 and HOXB2 109951028|GeneID:109951028 10595394|PMID:10595394 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10595394] negatively affects transcription of a transiently transfected gamma-globin reporter construct RsaI-AvaII 3'gammaPE2 fragment that binds both SATB1 and HOXB2 | negatively affects transcription of a transiently transfected gamma-globin reporter construct | homeobox B2 -chr11 5247548 5247585 protein_bind: SATB homeobox 1 0 + 5247548 5247585 192,0,0 protein_binding_site SATB1 site IV fragment; overlaps the 3'gammaPE2 fragment (PMID:10595394) 109951028|GeneID:109951028 8049444|PMID:8049444,10595394|PMID:10595394 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8049444, PMID:10595394] positively affects transcription of a transiently transfected gamma-globin reporter construct SATB1 site IV fragment; overlaps the 3'gammaPE2 fragment (PMID:10595394) | positively affects transcription of a transiently transfected gamma-globin reporter construct | SATB homeobox 1 -chr11 5247737 5247766 protein_bind: GATA binding protein 1 0 + 5247737 5247766 192,0,0 protein_binding_site footprint II GATA-1-binding fragment 109951028|GeneID:109951028 2259631|PMID:2259631 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2259631] footprint II GATA-1-binding fragment | GATA binding protein 1 -chr11 5247814 5247856 protein_bind: SATB homeobox 1 0 + 5247814 5247856 192,0,0 protein_binding_site 3'gammaPE1 fragment that binds both SATB1 and HOXB2; overlaps the SATB1 site I fragment (PMID:8049444) 109951028|GeneID:109951028 8049444|PMID:8049444,10595394|PMID:10595394 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10595394, PMID:8049444] positively affects transcription of a transiently transfected gamma-globin reporter construct 3'gammaPE1 fragment that binds both SATB1 and HOXB2; overlaps the SATB1 site I fragment (PMID:8049444) | positively affects transcription of a transiently transfected gamma-globin reporter construct | SATB homeobox 1 -chr11 5247814 5247856 protein_bind: homeobox B2 0 + 5247814 5247856 192,0,0 protein_binding_site 3'gammaPE1 fragment that binds both SATB1 and HOXB2 109951028|GeneID:109951028 10595394|PMID:10595394 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10595394] negatively affects transcription of a transiently transfected gamma-globin reporter construct 3'gammaPE1 fragment that binds both SATB1 and HOXB2 | negatively affects transcription of a transiently transfected gamma-globin reporter construct | homeobox B2 -chr11 5247814 5247856 transcriptional_cis_regulatory_region 0 + 5247814 5247856 0,128,128 region 3'gammaPE1-42 fragment in the -161 gammaLUC-42-10 construct 109951028|GeneID:109951028 8034705|PMID:8034705 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8034705] increases transcriptional activity of a gamma-globin or SV40 heterologus promoter in transfected HeLa or K562 cells 3'gammaPE1-42 fragment in the -161 gammaLUC-42-10 construct | increases transcriptional activity of a gamma-globin or SV40 heterologus promoter in transfected HeLa or K562 cells -chr11 5249067 5250079 non_allelic_homologous 0 + 5249067 5250079 160,82,45 recombination_feature sub-region a, recombines with sub-region a' within the HBG2 recombination region 106099064|GeneID:106099064 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region a, recombines with sub-region a' within the HBG2 recombination region -chr11 5249421 5249439 non_allelic_homologous 0 + 5249421 5249439 160,82,45 recombination_feature sub-region HBG1 Lepore-Kenya, recombines with sub-region HBB Lepore-Kenya within the HBB recombination region 106099064|GeneID:106099064 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region HBG1 Lepore-Kenya, recombines with sub-region HBB Lepore-Kenya within the HBB recombination region -chr11 5250251 5250324 non_allelic_homologous 0 + 5250251 5250324 160,82,45 recombination_feature sub-region b, recombines with sub-region b' within the HBG2 recombination region 106099064|GeneID:106099064 3401591|PMID:3401591 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:3401591] sub-region b, recombines with sub-region b' within the HBG2 recombination region -chr11 5253986 5255003 non_allelic_homologous 0 + 5253986 5255003 160,82,45 recombination_feature sub-region a', recombines with sub-region a within the HBG1 recombination region 106099065|GeneID:106099065 2060774|PMID:2060774 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2060774] sub-region a', recombines with sub-region a within the HBG1 recombination region -chr11 5255179 5255252 non_allelic_homologous 0 + 5255179 5255252 160,82,45 recombination_feature sub-region b', recombines with sub-region b within the HBG1 recombination region 106099065|GeneID:106099065 3401591|PMID:3401591 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:3401591] sub-region b', recombines with sub-region b within the HBG1 recombination region -chr11 5269924 5270121 promoter 0 + 5269924 5270121 0,128,128 promoter +19 to -177 p-epsilon-delta177 construct fragment lacking the silencer region 109580095|GeneID:109580095 2748586|PMID:2748586 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2748586] epsilon gene (HBE1) minimal promoter +19 to -177 p-epsilon-delta177 construct fragment lacking the silencer region | epsilon gene (HBE1) minimal promoter -chr11 5269924 5271393 promoter 0 + 5269924 5271393 0,128,128 promoter +19 to -1450 p-epsilon-GLCAT construct fragment 109580095|GeneID:109580095 3456225|PMID:3456225,4048224|PMID:4048224 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:3456225, PMID:4048224] epsilon gene (HBE1) full promoter +19 to -1450 p-epsilon-GLCAT construct fragment | epsilon gene (HBE1) full promoter -chr11 5269970 5269977 TATA_box 0 + 5269970 5269977 0,128,128 TATA_box based on paralogous and orthologous beta-globin promoter alignments 109580095|GeneID:109580095 6985477|PMID:6985477 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:6985477] epsilon gene (HBE1) TATA box based on paralogous and orthologous beta-globin promoter alignments | epsilon gene (HBE1) TATA box -chr11 5270023 5270028 CAAT_signal 0 + 5270023 5270028 0,128,128 CAAT_signal based on paralogous and orthologous beta-globin promoter alignments 109580095|GeneID:109580095 6985477|PMID:6985477 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:6985477] epsilon gene (HBE1) CCAAT box based on paralogous and orthologous beta-globin promoter alignments | epsilon gene (HBE1) CCAAT box -chr11 5270120 5270402 silencer 0 + 5270120 5270402 0,128,128 silencer -182 to -467 AflII-BamHI fragment 109580095|GeneID:109580095 1737096|PMID:1737096 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1737096] epsilon gene (HBE1) silencer -182 to -467 AflII-BamHI fragment | epsilon gene (HBE1) silencer -chr11 5270121 5270336 silencer 0 + 5270121 5270336 0,128,128 silencer 109580095|GeneID:109580095 2748586|PMID:2748586 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2748586] epsilon gene (HBE1) silencer epsilon gene (HBE1) silencer -chr11 5270194 5270238 silencer 0 + 5270194 5270238 0,128,128 silencer -294 to -251 44 bp minimal silencer element 109580095|GeneID:109580095 1537556|PMID:1537556 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1537556] epsilon gene (HBE1) minimal silencer -294 to -251 44 bp minimal silencer element | epsilon gene (HBE1) minimal silencer -chr11 5270257 5270282 protein_bind: SATB homeobox 1 0 + 5270257 5270282 192,0,0 protein_binding_site M-epsilon MAR SATB1 binding site 109580095|GeneID:109580095 15618465|PMID:15618465 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15618465] enhances transcriptional activity of the epsilon promoter M-epsilon MAR SATB1 binding site | enhances transcriptional activity of the epsilon promoter | SATB homeobox 1 -chr11 5270790 5292315 locus_control_region 0 + 5270790 5292315 0,128,128 locus_control_region 21.5 kb ClaI-BglII fragment from -1 kb to -22.5 kb; includes 5'HS1-5'HS5 109580095|GeneID:109580095 3690667|PMID:3690667 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:3690667] regulates developmental expression of the beta-globin genes 21.5 kb ClaI-BglII fragment from -1 kb to -22.5 kb; includes 5'HS1-5'HS5 | regulates developmental expression of the beta-globin genes -chr11 5273037 5274981 matrix_attachment_region 0 + 5273037 5274981 0,128,128 region 2 kb AvaII pGSE228 fragment c SAR 109580095|GeneID:109580095 2559410|PMID:2559410,3208739|PMID:3208739 EXISTENCE:fractionation evidence [ECO:0000100][PMID:3208739, PMID:2559410] associates with the nuclear scaffold 2 kb AvaII pGSE228 fragment c SAR | associates with the nuclear scaffold -chr11 5275197 5276133 enhancer 0 + 5275197 5276133 0,128,128 enhancer 5'HS1 or HS1-3' enhancer fragment 109580095|GeneID:109580095 17548470|PMID:17548470,20231293|PMID:20231293 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20231293, PMID:17548470] enhancer in K562 erythroleukemia cells 5'HS1 or HS1-3' enhancer fragment | enhancer in K562 erythroleukemia cells -chr11 5275668 5276496 enhancer 0 + 5275668 5276496 0,128,128 enhancer 0.8 kb NcoI-HindIII fragment deleted in the delta-5'HS1 beta-YAC transgene 109580095|GeneID:109580095 17433733|PMID:17433733 EXISTENCE:deletion mutation evidence [ECO:0005510][PMID:17433733] enhances epsilon- and gamma-globin gene expression in embryonic and fetal stage transgenic mice 0.8 kb NcoI-HindIII fragment deleted in the delta-5'HS1 beta-YAC transgene | enhances epsilon- and gamma-globin gene expression in embryonic and fetal stage transgenic mice -chr11 5275744 5276302 DNase_I_hypersensitive_site 0 + 5275744 5276302 0,128,128 region 5'HS1, also known as HS1, HSS1, HSI or -6.1 hypersensitive site; predominantly erythroid; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 2370867|PMID:2370867,3480506|PMID:3480506,3690667|PMID:3690667,3879975|PMID:3879975 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2370867, PMID:3879975, PMID:3480506, PMID:3690667] necesssary for position-independent and copy number-dependent activity of the LCR in transgenic mice 5'HS1, also known as HS1, HSS1, HSI or -6.1 hypersensitive site; predominantly erythroid; the nucleotide coordinates are approximate for this feature | necesssary for position-independent and copy number-dependent activity of the LCR in transgenic mice -chr11 5275914 5276048 enhancer 0 + 5275914 5276048 0,128,128 enhancer 5'HS1 G fragment with strongest enhancer activity 109580095|GeneID:109580095 20231293|PMID:20231293 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20231293] enhancer in K562 erythroleukemia cells 5'HS1 G fragment with strongest enhancer activity | enhancer in K562 erythroleukemia cells -chr11 5275916 5275929 protein_bind: GATA binding protein 1 0 + 5275916 5275929 192,0,0 protein_binding_site probe G GATA-1 binding site 109580095|GeneID:109580095 9657768|PMID:9657768 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9657768] probe G GATA-1 binding site | GATA binding protein 1 -chr11 5275933 5276023 enhancer 0 + 5275933 5276023 0,128,128 enhancer 5'HS1 N fragment with enhancer activity; corresponds to the combined K and L fragments 109580095|GeneID:109580095 20231293|PMID:20231293 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20231293] enhancer in K562 erythroleukemia cells 5'HS1 N fragment with enhancer activity; corresponds to the combined K and L fragments | enhancer in K562 erythroleukemia cells -chr11 5275951 5275970 protein_bind: GATA binding protein 1 0 + 5275951 5275970 192,0,0 protein_binding_site L2 fragment or probe F GATA-1 binding site 109580095|GeneID:109580095 9657768|PMID:9657768,20231293|PMID:20231293 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20231293, PMID:9657768] necessary for efficient epsilon-globin (HBE1) gene expression L2 fragment or probe F GATA-1 binding site | necessary for efficient epsilon-globin (HBE1) gene expression | GATA binding protein 1 -chr11 5275983 5276006 protein_bind: Sp1 or Sp3 transcription factor 0 + 5275983 5276006 192,0,0 protein_binding_site probe E Sp1/Sp3 binding site 109580095|GeneID:109580095 9657768|PMID:9657768 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9657768] probe E Sp1/Sp3 binding site | Sp1 or Sp3 transcription factor -chr11 5276137 5276156 protein_bind: GATA binding protein 1 0 + 5276137 5276156 192,0,0 protein_binding_site probe C GATA-1 binding site 109580095|GeneID:109580095 9657768|PMID:9657768 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9657768] probe C GATA-1 binding site | GATA binding protein 1 -chr11 5276224 5276253 protein_bind: GATA binding protein 1 0 + 5276224 5276253 192,0,0 protein_binding_site probe A GATA-1 binding site 109580095|GeneID:109580095 9657768|PMID:9657768 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9657768] probe A GATA-1 binding site | GATA binding protein 1 -chr11 5279019 5280939 enhancer 0 + 5279019 5280939 0,128,128 enhancer 1.9 kb HindIII HS2 enhancer fragment in the HS2-Ggamma-Agamma-delta-beta construct 109580095|GeneID:109580095 8692864|PMID:8692864,9002975|PMID:9002975 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9002975, PMID:8692864] intermediate rate globin gene switching in transgenic mice 1.9 kb HindIII HS2 enhancer fragment in the HS2-Ggamma-Agamma-delta-beta construct | intermediate rate globin gene switching in transgenic mice -chr11 5279780 5281666 enhancer 0 + 5279780 5281666 0,128,128 enhancer 1.9 kb KpnI-PvuII HS2 enhancer fragment 109580095|GeneID:109580095 10196210|PMID:10196210 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10196210] acts in concert with the HS3 enhancer to allow stage-specific expression of the gamma- and beta-globin genes in transfected HEL and K562 cells; functions in globin gene switching in transgenic mice 1.9 kb KpnI-PvuII HS2 enhancer fragment | acts in concert with the HS3 enhancer to allow stage-specific expression of the gamma- and beta-globin genes in transfected HEL and K562 cells; functions in globin gene switching in transgenic mice -chr11 5279914 5280427 matrix_attachment_region 0 + 5279914 5280427 0,128,128 region 514 bp HS2 amplicon showing matrix enrichment in K562 cell EcoRI/HindIII-digested DNA fractions 109580095|GeneID:109580095 12799453|PMID:12799453 EXISTENCE:fractionation evidence [ECO:0000100][PMID:12799453] 514 bp HS2 amplicon showing matrix enrichment in K562 cell EcoRI/HindIII-digested DNA fractions -chr11 5280211 5280939 enhancer 0 + 5280211 5280939 0,128,128 enhancer BglII-HindIII HS2 enhancer fragment 109580095|GeneID:109580095 15979088|PMID:15979088 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15979088] enhances transcriptional activity of beta-globin genes BglII-HindIII HS2 enhancer fragment | enhances transcriptional activity of beta-globin genes -chr11 5280347 5280527 misc_structure: intrinsic bending region 0 + 5280347 5280527 0,0,0 sequence_secondary_structure intrinsic bending region; epsilonB-16 DNA bend center flanking HS2 109580095|GeneID:109580095 9837721|PMID:9837721 EXISTENCE:gel electrophoresis evidence [ECO:0000337][PMID:9837721] nucleosome phasing at HS2 intrinsic bending region; epsilonB-16 DNA bend center flanking HS2 | nucleosome phasing at HS2 -chr11 5280483 5283752 enhancer 0 + 5280483 5283752 0,128,128 enhancer MfeI-MfeI HS2 fragment in the HS2ALL construct 109580095|GeneID:109580095 14636653|PMID:14636653 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:14636653] enhances beta-globin gene expression in embyonic yolk sac, fetal liver and adult bone marrow of transgenic mice MfeI-MfeI HS2 fragment in the HS2ALL construct | enhances beta-globin gene expression in embyonic yolk sac, fetal liver and adult bone marrow of transgenic mice -chr11 5280483 5286050 enhancer 0 + 5280483 5286050 0,128,128 enhancer MfeI-HpaI HS2-HS3 enhancer fragment in the HS23ALL construct 109580095|GeneID:109580095 14636653|PMID:14636653 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:14636653] regulates beta-globin gene spatial and temporal expression in transgenic mice; synergistic regulation by HS2 and HS3 combined MfeI-HpaI HS2-HS3 enhancer fragment in the HS23ALL construct | regulates beta-globin gene spatial and temporal expression in transgenic mice; synergistic regulation by HS2 and HS3 combined -chr11 5280547 5281017 DNase_I_hypersensitive_site 0 + 5280547 5281017 0,128,128 region 5'HS2, also known as HS2, HSS2, HSII, -10.8 or -10.9 hypersensitive site; not exclusively erythroid; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 2370867|PMID:2370867,3480506|PMID:3480506,3690667|PMID:3690667,3879975|PMID:3879975 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2370867, PMID:3879975, PMID:3480506, PMID:3690667] necessary for high-level beta-globin gene expression and for position-independent and copy number-dependent activity of the LCR in transgenic mice 5'HS2, also known as HS2, HSS2, HSII, -10.8 or -10.9 hypersensitive site; not exclusively erythroid; the nucleotide coordinates are approximate for this feature | necessary for high-level beta-globin gene expression and for position-independent and copy number-dependent activity of the LCR in transgenic mice -chr11 5280569 5280944 enhancer 0 + 5280569 5280944 0,128,128 enhancer 0.4 kb HindIII-XbaI HS2 fragment 109580095|GeneID:109580095 8662652|PMID:8662652,11158302|PMID:11158302,12582237|PMID:12582237 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8662652, PMID:11158302, PMID:12582237] enhances transcription of the epsilon- and beta-globin genes in transfected K562 cells; EKLF-dependent activity 0.4 kb HindIII-XbaI HS2 fragment | enhances transcription of the epsilon- and beta-globin genes in transfected K562 cells; EKLF-dependent activity -chr11 5280579 5280590 transcriptional_cis_regulatory_region 0 + 5280579 5280590 0,128,128 region HS2 HSC site deleted in the deltaHSC transgene 109580095|GeneID:109580095 8152905|PMID:8152905 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8152905] weakly contribues to HS2 enhancer activity in transgenic mice HS2 HSC site deleted in the deltaHSC transgene | weakly contribues to HS2 enhancer activity in transgenic mice -chr11 5280627 5280637 transcriptional_cis_regulatory_region 0 + 5280627 5280637 0,128,128 region HS2 USF site deleted in the deltaUSF transgene 109580095|GeneID:109580095 8152905|PMID:8152905 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8152905] required for maximal HS2 enhancer activity in transgenic mice HS2 USF site deleted in the deltaUSF transgene | required for maximal HS2 enhancer activity in transgenic mice -chr11 5280628 5280650 protein_bind: upstream transcription factor family member 0 + 5280628 5280650 192,0,0 protein_binding_site 8790 E Box fragment that binds the bHLH transcription factor USF 109580095|GeneID:109580095 8360172|PMID:8360172,8943307|PMID:8943307 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8360172, PMID:8943307] 8790 E Box fragment that binds the bHLH transcription factor USF | upstream transcription factor family member -chr11 5280630 5280638 protein_bind: nuclear factor, erythroid 2 0 + 5280630 5280638 192,0,0 protein_binding_site HS2 NF-E footprint 109580095|GeneID:109580095 2000371|PMID:2000371 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:2000371] HS2 enhancer activity HS2 NF-E footprint | HS2 enhancer activity | nuclear factor, erythroid 2 -chr11 5280658 5280672 protein_bind: TAL bHLH transcription factor 1, erythroid differentiation factor 0 + 5280658 5280672 192,0,0 protein_binding_site 8762 E box probe that binds TAL1 in K562 and MEL cells 109580095|GeneID:109580095 8995271|PMID:8995271 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8995271] 8762 E box probe that binds TAL1 in K562 and MEL cells | TAL bHLH transcription factor 1, erythroid differentiation factor -chr11 5280658 5280672 protein_bind: upstream transcription factor family member 0 + 5280658 5280672 192,0,0 protein_binding_site 8762 E box probe that binds USF in K562 and MEL cells 109580095|GeneID:109580095 8995271|PMID:8995271 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8995271] 8762 E box probe that binds USF in K562 and MEL cells | upstream transcription factor family member -chr11 5280692 5280702 transcriptional_cis_regulatory_region 0 + 5280692 5280702 0,128,128 region HS2 GATA1 site deleted in the deltaGATA1 transgene 109580095|GeneID:109580095 8152905|PMID:8152905 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8152905] required for maximal HS2 enhancer activity in transgenic mice HS2 GATA1 site deleted in the deltaGATA1 transgene | required for maximal HS2 enhancer activity in transgenic mice -chr11 5280694 5280709 protein_bind: GATA binding protein 1 0 + 5280694 5280709 192,0,0 protein_binding_site inverted GATA-1 binding motifs at HS2 109580095|GeneID:109580095 18586828|PMID:18586828 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:18586828] necessary for activation of the epsilon-globin promoter inverted GATA-1 binding motifs at HS2 | necessary for activation of the epsilon-globin promoter | GATA binding protein 1 -chr11 5280715 5280745 protein_bind: recombination signal binding protein for immunoglobulin kappa J region 0 + 5280715 5280745 192,0,0 protein_binding_site HS2NF5 binding fragment; HS2 CBF1 binding site 109580095|GeneID:109580095 8943307|PMID:8943307,9727046|PMID:9727046 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8943307, PMID:9727046] important for optimal enhancer activity of HS2 HS2NF5 binding fragment; HS2 CBF1 binding site | important for optimal enhancer activity of HS2 | recombination signal binding protein for immunoglobulin kappa J region -chr11 5280715 5280745 protein_bind: upstream transcription factor family member 0 + 5280715 5280745 192,0,0 protein_binding_site 8711 E Box fragment that binds the bHLH transcription factor USF; weak binding compared to the 8790 E Box fragment 109580095|GeneID:109580095 8943307|PMID:8943307 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8943307] 8711 E Box fragment that binds the bHLH transcription factor USF; weak binding compared to the 8790 E Box fragment | upstream transcription factor family member -chr11 5280718 5280736 protein_bind: TAL bHLH transcription factor 1, erythroid differentiation factor 0 + 5280718 5280736 192,0,0 protein_binding_site 8701 E box probe that binds TAL1 in K562 and MEL cells 109580095|GeneID:109580095 8995271|PMID:8995271 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8995271] 8701 E box probe that binds TAL1 in K562 and MEL cells | TAL bHLH transcription factor 1, erythroid differentiation factor -chr11 5280741 5280747 transcriptional_cis_regulatory_region 0 + 5280741 5280747 0,128,128 region HS2 NF-E5 site mutated in the NF-E5S transgene 109580095|GeneID:109580095 8152905|PMID:8152905 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8152905] weakly contribues to HS2 enhancer activity in transgenic mice HS2 NF-E5 site mutated in the NF-E5S transgene | weakly contribues to HS2 enhancer activity in transgenic mice -chr11 5280751 5280769 transcriptional_cis_regulatory_region 0 + 5280751 5280769 0,128,128 region adjacent HS2 AP1/NFE2 sites deleted in the deltaAP1x2 (or NF-E2x2) transgene, or mutated in NF-E2 mutant enhancer constructs 109580095|GeneID:109580095 2235483|PMID:2235483 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2235483] required for maximal HS2 enhancer activity in transgenic mice and in induced K562 cells adjacent HS2 AP1/NFE2 sites deleted in the deltaAP1x2 (or NF-E2x2) transgene, or mutated in NF-E2 mutant enhancer constructs | required for maximal HS2 enhancer activity in transgenic mice and in induced K562 cells -chr11 5280752 5280760 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 5280752 5280760 192,0,0 protein_binding_site HS2 AP1 footprint 109580095|GeneID:109580095 2000371|PMID:2000371,8995271|PMID:8995271 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:2000371, PMID:8995271] HS2 enhancer activity HS2 AP1 footprint | HS2 enhancer activity | Jun proto-oncogene, AP-1 transcription factor subunit -chr11 5280752 5280770 protein_bind: nuclear factor, erythroid 2 0 + 5280752 5280770 192,0,0 protein_binding_site HS2 AP1 site pair bound by NF-E2 109580095|GeneID:109580095 1902783|PMID:1902783,2235483|PMID:2235483,8816476|PMID:8816476 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1902783, PMID:8816476, PMID:2235483] forms HS2 by disruption of nucleosome structure HS2 AP1 site pair bound by NF-E2 | forms HS2 by disruption of nucleosome structure | nuclear factor, erythroid 2 -chr11 5280762 5280770 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 5280762 5280770 192,0,0 protein_binding_site HS2 AP1 footprint 109580095|GeneID:109580095 2000371|PMID:2000371,8995271|PMID:8995271 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:2000371, PMID:8995271] HS2 enhancer activity HS2 AP1 footprint | HS2 enhancer activity | Jun proto-oncogene, AP-1 transcription factor subunit -chr11 5280823 5280829 protein_bind: Sp1 transcription factor 0 + 5280823 5280829 192,0,0 protein_binding_site HS2 SP1 footprint 109580095|GeneID:109580095 2000371|PMID:2000371 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:2000371] HS2 enhancer activity HS2 SP1 footprint | HS2 enhancer activity | Sp1 transcription factor -chr11 5280823 5280829 transcriptional_cis_regulatory_region 0 + 5280823 5280829 0,128,128 region HS2 SP1 site deleted in the deltaSP1 transgene 109580095|GeneID:109580095 8152905|PMID:8152905 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8152905] required for maximal HS2 enhancer activity in transgenic mice HS2 SP1 site deleted in the deltaSP1 transgene | required for maximal HS2 enhancer activity in transgenic mice -chr11 5281117 5281142 protein_bind: SATB homeobox 1 0 + 5281117 5281142 192,0,0 protein_binding_site HS2 M1-MAR SATB1 binding site 109580095|GeneID:109580095 15618465|PMID:15618465 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15618465] enhances transcriptional activity of the epsilon promoter HS2 M1-MAR SATB1 binding site | enhances transcriptional activity of the epsilon promoter | SATB homeobox 1 -chr11 5281204 5281324 misc_structure: intrinsic bending region 0 + 5281204 5281324 0,0,0 sequence_secondary_structure intrinsic bending region; epsilonB-17 DNA bend center flanking HS2 109580095|GeneID:109580095 9837721|PMID:9837721 EXISTENCE:gel electrophoresis evidence [ECO:0000337][PMID:9837721] nucleosome phasing at HS2 intrinsic bending region; epsilonB-17 DNA bend center flanking HS2 | nucleosome phasing at HS2 -chr11 5283269 5285590 enhancer 0 + 5283269 5285590 0,128,128 enhancer 2.3 kb SpeI-HindIII HS3 fragment deleted in the beta-YAC LCR transgene 109580095|GeneID:109580095 8692864|PMID:8692864 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8692864] enhances epsilon-globin expression in the embryonic yolk sac of transgenic mice 2.3 kb SpeI-HindIII HS3 fragment deleted in the beta-YAC LCR transgene | enhances epsilon-globin expression in the embryonic yolk sac of transgenic mice -chr11 5283463 5284059 matrix_attachment_region 0 + 5283463 5284059 0,128,128 region 596 bp HS3 amplicon showing matrix enrichment in non-erythroid GM00468 cell EcoRI/HindIII-digested DNA fractions 109580095|GeneID:109580095 12799453|PMID:12799453 EXISTENCE:fractionation evidence [ECO:0000100][PMID:12799453] 596 bp HS3 amplicon showing matrix enrichment in non-erythroid GM00468 cell EcoRI/HindIII-digested DNA fractions -chr11 5283752 5286050 enhancer 0 + 5283752 5286050 0,128,128 enhancer MfeI-HpaI HS3 fragment in the HS3ALL construct 109580095|GeneID:109580095 14636653|PMID:14636653 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:14636653] enhances beta-globin gene expression in adult bone marrow of transgenic mice MfeI-HpaI HS3 fragment in the HS3ALL construct | enhances beta-globin gene expression in adult bone marrow of transgenic mice -chr11 5283822 5283853 protein_bind: GATA binding protein 1 0 + 5283822 5283853 192,0,0 protein_binding_site FP24 oligonucleotide; moderate GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP24 oligonucleotide; moderate GATA-1 binding | GATA binding protein 1 -chr11 5283822 5283853 protein_bind: POU class 2 homeobox 1 0 + 5283822 5283853 192,0,0 protein_binding_site FP24 oligonucleotide; moderate Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP24 oligonucleotide; moderate Oct-1 binding | POU class 2 homeobox 1 -chr11 5283838 5283868 protein_bind: GATA binding protein 1 0 + 5283838 5283868 192,0,0 protein_binding_site FP23 oligonucleotide; weak GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP23 oligonucleotide; weak GATA-1 binding | GATA binding protein 1 -chr11 5283838 5283868 protein_bind: POU class 2 homeobox 1 0 + 5283838 5283868 192,0,0 protein_binding_site FP23 oligonucleotide; moderate Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP23 oligonucleotide; moderate Oct-1 binding | POU class 2 homeobox 1 -chr11 5283853 5283879 protein_bind: POU class 2 homeobox 1 0 + 5283853 5283879 192,0,0 protein_binding_site FP22 oligonucleotide; moderate Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP22 oligonucleotide; moderate Oct-1 binding | POU class 2 homeobox 1 -chr11 5283868 5283900 protein_bind: GATA binding protein 1 0 + 5283868 5283900 192,0,0 protein_binding_site FP21 oligonucleotide; strong GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP21 oligonucleotide; strong GATA-1 binding | GATA binding protein 1 -chr11 5283868 5283900 protein_bind: POU class 2 homeobox 1 0 + 5283868 5283900 192,0,0 protein_binding_site FP21 oligonucleotide; strong Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP21 oligonucleotide; strong Oct-1 binding | POU class 2 homeobox 1 -chr11 5283880 5283910 protein_bind: GATA binding protein 1 0 + 5283880 5283910 192,0,0 protein_binding_site FP20 oligonucleotide; strong GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP20 oligonucleotide; strong GATA-1 binding | GATA binding protein 1 -chr11 5283880 5283910 protein_bind: POU class 2 homeobox 1 0 + 5283880 5283910 192,0,0 protein_binding_site FP20 oligonucleotide; weak Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP20 oligonucleotide; weak Oct-1 binding | POU class 2 homeobox 1 -chr11 5283974 5284013 protein_bind: GATA binding protein 1 0 + 5283974 5284013 192,0,0 protein_binding_site FP19 oligonucleotide; moderate GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP19 oligonucleotide; moderate GATA-1 binding | GATA binding protein 1 -chr11 5283974 5284013 protein_bind: POU class 2 homeobox 1 0 + 5283974 5284013 192,0,0 protein_binding_site FP19 oligonucleotide; weak Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP19 oligonucleotide; weak Oct-1 binding | POU class 2 homeobox 1 -chr11 5284050 5284083 protein_bind: YY1 transcription factor 0 + 5284050 5284083 192,0,0 protein_binding_site FP18 oligonucleotide; weak YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP18 oligonucleotide; weak YY1 binding | YY1 transcription factor -chr11 5284050 5284083 protein_bind: upstream transcription factor family member 0 + 5284050 5284083 192,0,0 protein_binding_site FP18 oligonucleotide; strong USF binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP18 oligonucleotide; strong USF binding | upstream transcription factor family member -chr11 5284078 5284108 protein_bind: YY1 transcription factor 0 + 5284078 5284108 192,0,0 protein_binding_site FP17 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP17 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284233 5284263 protein_bind: GATA binding protein 1 0 + 5284233 5284263 192,0,0 protein_binding_site FP16 oligonucleotide; moderate GATA-1 binding 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] FP16 oligonucleotide; moderate GATA-1 binding | GATA binding protein 1 -chr11 5284233 5284263 protein_bind: POU class 2 homeobox 1 0 + 5284233 5284263 192,0,0 protein_binding_site FP16 oligonucleotide; moderate Oct-1 binding 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] FP16 oligonucleotide; moderate Oct-1 binding | POU class 2 homeobox 1 -chr11 5284233 5284263 protein_bind: YY1 transcription factor 0 + 5284233 5284263 192,0,0 protein_binding_site FP16 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP16 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284255 5286162 enhancer 0 + 5284255 5286162 0,128,128 enhancer 1.9 kb HindIII HS3 enhancer fragment 109580095|GeneID:109580095 8662652|PMID:8662652,10196210|PMID:10196210 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8662652, PMID:10196210] chromatin domain-opening activity in stably transfected K562 cells; synergizes with the HS2 enhancer to allow stage-specific expression of the gamma- and beta-globin genes in transfected HEL and K562 cells 1.9 kb HindIII HS3 enhancer fragment | chromatin domain-opening activity in stably transfected K562 cells; synergizes with the HS2 enhancer to allow stage-specific expression of the gamma- and beta-globin genes in transfected HEL and K562 cells -chr11 5284303 5284783 enhancer 0 + 5284303 5284783 0,128,128 enhancer 0.8 kb PvuII-PstI HS3 fragment 109580095|GeneID:109580095 8662652|PMID:8662652 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8662652] modest enhancer of the epsilon-globin promoter in transfected K562 cells 0.8 kb PvuII-PstI HS3 fragment | modest enhancer of the epsilon-globin promoter in transfected K562 cells -chr11 5284327 5284356 protein_bind: POU class 2 homeobox 1 0 + 5284327 5284356 192,0,0 protein_binding_site FP15 oligonucleotide; weak Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP15 oligonucleotide; weak Oct-1 binding | POU class 2 homeobox 1 -chr11 5284327 5284356 protein_bind: Sp1 transcription factor 0 + 5284327 5284356 192,0,0 protein_binding_site FP15 oligonucleotide; strong Sp1 binding 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] FP15 oligonucleotide; strong Sp1 binding | Sp1 transcription factor -chr11 5284327 5284356 protein_bind: YY1 transcription factor 0 + 5284327 5284356 192,0,0 protein_binding_site FP15 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP15 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284445 5284484 protein_bind: YY1 transcription factor 0 + 5284445 5284484 192,0,0 protein_binding_site FP14 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP14 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284485 5285080 enhancer 0 + 5284485 5285080 0,128,128 enhancer PstI-AvaII HS3 fragment 109580095|GeneID:109580095 12582237|PMID:12582237 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12582237] enhances transcription of the beta-globin gene in transfected K562 cells PstI-AvaII HS3 fragment | enhances transcription of the beta-globin gene in transfected K562 cells -chr11 5284506 5284536 protein_bind: GATA binding protein 1 0 + 5284506 5284536 192,0,0 protein_binding_site FP13 oligonucleotide; weak GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP13 oligonucleotide; weak GATA-1 binding | GATA binding protein 1 -chr11 5284506 5284536 protein_bind: POU class 2 homeobox 1 0 + 5284506 5284536 192,0,0 protein_binding_site FP13 oligonucleotide; moderate Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP13 oligonucleotide; moderate Oct-1 binding | POU class 2 homeobox 1 -chr11 5284506 5284536 protein_bind: YY1 transcription factor 0 + 5284506 5284536 192,0,0 protein_binding_site FP13 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP13 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284513 5285160 DNase_I_hypersensitive_site 0 + 5284513 5285160 0,128,128 region 5'HS3, also known as HS3a, HSS3, HSIII or -14.8 hypersensitive site; predominantly erythroid; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 2370867|PMID:2370867,3480506|PMID:3480506,3690667|PMID:3690667,3879975|PMID:3879975 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2370867, PMID:3879975, PMID:3480506, PMID:3690667] necessary for high-level beta-globin gene expression and for position-independent and copy number-dependent activity of the LCR in transgenic mice 5'HS3, also known as HS3a, HSS3, HSIII or -14.8 hypersensitive site; predominantly erythroid; the nucleotide coordinates are approximate for this feature | necessary for high-level beta-globin gene expression and for position-independent and copy number-dependent activity of the LCR in transgenic mice -chr11 5284633 5284663 protein_bind: GATA binding protein 1 0 + 5284633 5284663 192,0,0 protein_binding_site FP12 oligonucleotide; weak GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP12 oligonucleotide; weak GATA-1 binding | GATA binding protein 1 -chr11 5284633 5284663 protein_bind: POU class 2 homeobox 1 0 + 5284633 5284663 192,0,0 protein_binding_site FP12 oligonucleotide; moderate Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP12 oligonucleotide; moderate Oct-1 binding | POU class 2 homeobox 1 -chr11 5284633 5284663 protein_bind: YY1 transcription factor 0 + 5284633 5284663 192,0,0 protein_binding_site FP12 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] FP12 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284633 5284663 protein_bind: nuclear factor, erythroid 2 0 + 5284633 5284663 192,0,0 protein_binding_site FP12 oligonucleotide; moderate NF-E2 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP12 oligonucleotide; moderate NF-E2 binding | nuclear factor, erythroid 2 -chr11 5284655 5284878 transcriptional_cis_regulatory_region 0 + 5284655 5284878 0,128,128 region 0.2 kb Fnu4H1-HphI HS3 core (HS3c) fragment deleted in the beta-YAC transgene 109580095|GeneID:109580095 9632803|PMID:9632803,16055715|PMID:16055715 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9632803, PMID:16055715] necessary for expression of the epsilon-globin gene in embryonic cells and gamma-globin gene in definitive cells of transgenic mice; necessary for histone acetylation across the beta-globin locus and for RNA polymerase II recruitment to the LCR 0.2 kb Fnu4H1-HphI HS3 core (HS3c) fragment deleted in the beta-YAC transgene | necessary for expression of the epsilon-globin gene in embryonic cells and gamma-globin gene in definitive cells of transgenic mice; necessary for histone acetylation across the beta-globin locus and for RNA polymerase II recruitment to the LCR -chr11 5284696 5284721 protein_bind: GATA binding protein 1 0 + 5284696 5284721 192,0,0 protein_binding_site FP11 oligonucleotide; strong GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP11 oligonucleotide; strong GATA-1 binding | GATA binding protein 1 -chr11 5284696 5284721 protein_bind: YY1 transcription factor 0 + 5284696 5284721 192,0,0 protein_binding_site FP11 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP11 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284712 5284742 protein_bind: YY1 transcription factor 0 + 5284712 5284742 192,0,0 protein_binding_site FP10 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] FP10 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284724 5284755 protein_bind: Sp1 transcription factor 0 + 5284724 5284755 192,0,0 protein_binding_site FP9 oligonucleotide; strong Sp1 binding 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] FP9 oligonucleotide; strong Sp1 binding | Sp1 transcription factor -chr11 5284724 5284755 protein_bind: YY1 transcription factor 0 + 5284724 5284755 192,0,0 protein_binding_site FP9 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP9 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5284748 5284782 protein_bind: GATA binding protein 1 0 + 5284748 5284782 192,0,0 protein_binding_site FP8 oligonucleotide; weak GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP8 oligonucleotide; weak GATA-1 binding | GATA binding protein 1 -chr11 5284748 5284782 protein_bind: YY1 transcription factor 0 + 5284748 5284782 192,0,0 protein_binding_site FP8 oligonucleotide; weak YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP8 oligonucleotide; weak YY1 binding | YY1 transcription factor -chr11 5284780 5284820 protein_bind: GATA binding protein 1 0 + 5284780 5284820 192,0,0 protein_binding_site footprint 3 (FP3) or FP7 oligonucleotide; strong GATA-1-binding 109580095|GeneID:109580095 8458325|PMID:8458325,9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325, PMID:9129054] footprint 3 (FP3) or FP7 oligonucleotide; strong GATA-1-binding | GATA binding protein 1 -chr11 5284792 5284823 protein_bind: YY1 transcription factor 0 + 5284792 5284823 192,0,0 protein_binding_site FP7 oligonucleotide; weak YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP7 oligonucleotide; weak YY1 binding | YY1 transcription factor -chr11 5284813 5284852 protein_bind: Sp1 transcription factor 0 + 5284813 5284852 192,0,0 protein_binding_site footprint 2 (FP2) Sp1-binding oligonucleotide 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] footprint 2 (FP2) Sp1-binding oligonucleotide | Sp1 transcription factor -chr11 5284813 5284852 protein_bind: speckle type BTB/POZ protein 0 + 5284813 5284852 192,0,0 protein_binding_site footprint 3 (FP3) TEF-2-binding oligonucleotide 109580095|GeneID:109580095 8458325|PMID:8458325 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325] footprint 3 (FP3) TEF-2-binding oligonucleotide | speckle type BTB/POZ protein -chr11 5284842 5284881 protein_bind: YY1 transcription factor 0 + 5284842 5284881 192,0,0 protein_binding_site FP6 oligonucleotide; weak YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP6 oligonucleotide; weak YY1 binding | YY1 transcription factor -chr11 5284844 5284878 protein_bind: GATA binding protein 1 0 + 5284844 5284878 192,0,0 protein_binding_site footprint 1 (FP1) or FP6 oligonucleotide; moderate GATA-1-binding 109580095|GeneID:109580095 8458325|PMID:8458325,9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8458325, PMID:9129054] footprint 1 (FP1) or FP6 oligonucleotide; moderate GATA-1-binding | GATA binding protein 1 -chr11 5284898 5284928 protein_bind: GATA binding protein 1 0 + 5284898 5284928 192,0,0 protein_binding_site FP4 oligonucleotide; weak GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP4 oligonucleotide; weak GATA-1 binding | GATA binding protein 1 -chr11 5284898 5284928 protein_bind: POU class 2 homeobox 1 0 + 5284898 5284928 192,0,0 protein_binding_site FP4 oligonucleotide; weak Oct-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP4 oligonucleotide; weak Oct-1 binding | POU class 2 homeobox 1 -chr11 5284898 5284928 protein_bind: nuclear factor, erythroid 2 0 + 5284898 5284928 192,0,0 protein_binding_site FP4 oligonucleotide; moderate NF-E2 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP4 oligonucleotide; moderate NF-E2 binding | nuclear factor, erythroid 2 -chr11 5284977 5285007 protein_bind: GATA binding protein 1 0 + 5284977 5285007 192,0,0 protein_binding_site FP3 oligonucleotide; weak GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP3 oligonucleotide; weak GATA-1 binding | GATA binding protein 1 -chr11 5284977 5285007 protein_bind: YY1 transcription factor 0 + 5284977 5285007 192,0,0 protein_binding_site FP3 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP3 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5285156 5285186 protein_bind: GATA binding protein 1 0 + 5285156 5285186 192,0,0 protein_binding_site FP1 oligonucleotide; strong GATA-1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP1 oligonucleotide; strong GATA-1 binding | GATA binding protein 1 -chr11 5285156 5285186 protein_bind: YY1 transcription factor 0 + 5285156 5285186 192,0,0 protein_binding_site FP1 oligonucleotide; strong YY1 binding 109580095|GeneID:109580095 9129054|PMID:9129054 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9129054] FP1 oligonucleotide; strong YY1 binding | YY1 transcription factor -chr11 5285400 5286115 DNase_I_hypersensitive_site 0 + 5285400 5286115 0,128,128 region 5'HS3.5, also known as HS3.5, HS3b, HS3.2 or secondary HS3; weak and predominantly erythroid; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 3690667|PMID:3690667,7828582|PMID:7828582 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:3690667, PMID:7828582] domain-opening activity 5'HS3.5, also known as HS3.5, HS3b, HS3.2 or secondary HS3; weak and predominantly erythroid; the nucleotide coordinates are approximate for this feature | domain-opening activity -chr11 5285989 5288872 enhancer 0 + 5285989 5288872 0,128,128 enhancer 2.9 kb StuI fragment deleted in the delta-5'HS4 beta-YAC transgene 109580095|GeneID:109580095 17433733|PMID:17433733 EXISTENCE:deletion mutation evidence [ECO:0005510][PMID:17433733] weakly enhances beta-globin gene expression in day 12 fetal liver in transgenic mice 2.9 kb StuI fragment deleted in the delta-5'HS4 beta-YAC transgene | weakly enhances beta-globin gene expression in day 12 fetal liver in transgenic mice -chr11 5286080 5286110 protein_bind: GATA binding protein 1 0 + 5286080 5286110 192,0,0 protein_binding_site HS3.2 6005 GATA1- and Oct1-binding oligonucleotide 109580095|GeneID:109580095 11867225|PMID:11867225 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11867225] HS3.2 6005 GATA1- and Oct1-binding oligonucleotide | GATA binding protein 1 -chr11 5286080 5286110 protein_bind: POU class 2 homeobox 1 0 + 5286080 5286110 192,0,0 protein_binding_site HS3.2 6005 GATA1- and Oct1-binding oligonucleotide 109580095|GeneID:109580095 11867225|PMID:11867225 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11867225] HS3.2 6005 GATA1- and Oct1-binding oligonucleotide | POU class 2 homeobox 1 -chr11 5287850 5288585 DNase_I_hypersensitive_site 0 + 5287850 5288585 0,128,128 region 5'HS4, also known as HS4, HSS4, HSIV, -18 or -18.4 hypersensitive site; predominantly erythroid; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 1736298|PMID:1736298,2370867|PMID:2370867,3480506|PMID:3480506,3690667|PMID:3690667,3879975|PMID:3879975,7828582|PMID:7828582 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2370867, PMID:3879975, PMID:3480506, PMID:3690667, PMID:7828582, PMID:1736298] necessary for high-level beta-globin gene expression and for position-independent activity of the LCR in transgenic mice 5'HS4, also known as HS4, HSS4, HSIV, -18 or -18.4 hypersensitive site; predominantly erythroid; the nucleotide coordinates are approximate for this feature | necessary for high-level beta-globin gene expression and for position-independent activity of the LCR in transgenic mice -chr11 5288089 5288474 enhancer 0 + 5288089 5288474 0,128,128 enhancer SacI-SspI HS4 fragment 109580095|GeneID:109580095 12582237|PMID:12582237 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12582237] enhances transcription of the beta-globin gene in transfected K562 cells; EKLF-dependent activity SacI-SspI HS4 fragment | enhances transcription of the beta-globin gene in transfected K562 cells; EKLF-dependent activity -chr11 5288192 5288205 protein_bind: Sp1 transcription factor 0 + 5288192 5288205 192,0,0 protein_binding_site HS4 Sp1-binding site; oligo 920 fragment 109580095|GeneID:109580095 2027748|PMID:2027748 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748] HS4 Sp1-binding site; oligo 920 fragment | Sp1 transcription factor -chr11 5288192 5288205 protein_bind: speckle type BTB/POZ protein 0 + 5288192 5288205 192,0,0 protein_binding_site HS4 CACC- or TEF-2-binding site; oligo 920 fragment 109580095|GeneID:109580095 2027748|PMID:2027748 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748] HS4 CACC- or TEF-2-binding site; oligo 920 fragment | speckle type BTB/POZ protein -chr11 5288193 5288473 enhancer 0 + 5288193 5288473 0,128,128 enhancer 280 bp SacI-AvaI fragment deleted in the deltaHS4c beta-YAC transgene 109580095|GeneID:109580095 2027748|PMID:2027748,11545582|PMID:11545582 EXISTENCE:deletion mutation evidence [ECO:0005510][PMID:2027748, PMID:11545582] enhances gamma- and beta-globin gene expression during definitive erythropoiesis in fetal liver and beta-globin expression in adult blood in transgenic mice 280 bp SacI-AvaI fragment deleted in the deltaHS4c beta-YAC transgene | enhances gamma- and beta-globin gene expression during definitive erythropoiesis in fetal liver and beta-globin expression in adult blood in transgenic mice -chr11 5288209 5288232 protein_bind: Sp1 transcription factor 0 + 5288209 5288232 192,0,0 protein_binding_site HS4 Sp1 binding site; oligo 890 fragment 109580095|GeneID:109580095 2027748|PMID:2027748 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748] HS4 Sp1 binding site; oligo 890 fragment | Sp1 transcription factor -chr11 5288209 5288232 protein_bind: speckle type BTB/POZ protein 0 + 5288209 5288232 192,0,0 protein_binding_site HS4 CACC- or TEF-2-binding site; oligo 890 fragment 109580095|GeneID:109580095 2027748|PMID:2027748 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748] HS4 CACC- or TEF-2-binding site; oligo 890 fragment | speckle type BTB/POZ protein -chr11 5288229 5288331 transcriptional_cis_regulatory_region 0 + 5288229 5288331 0,128,128 region 101 bp HS4 HS-forming element (HSFE) 109580095|GeneID:109580095 7828582|PMID:7828582 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7828582] required for HS4 formation in stably transfected MEL cells 101 bp HS4 HS-forming element (HSFE) | required for HS4 formation in stably transfected MEL cells -chr11 5288239 5288264 protein_bind: GATA binding protein 1 0 + 5288239 5288264 192,0,0 protein_binding_site HS4 HS-forming element inverted GATA-1 sites; oligo 870 fragment 109580095|GeneID:109580095 2027748|PMID:2027748,7828582|PMID:7828582 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748, PMID:7828582] required for HS4 formation in stably transfected MEL cells HS4 HS-forming element inverted GATA-1 sites; oligo 870 fragment | required for HS4 formation in stably transfected MEL cells | GATA binding protein 1 -chr11 5288268 5288288 protein_bind: Sp1 transcription factor 0 + 5288268 5288288 192,0,0 protein_binding_site HS4 HS-forming element SP-1 site; oligo 840 fragment 109580095|GeneID:109580095 2027748|PMID:2027748,7828582|PMID:7828582 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748, PMID:7828582] HS4 HS-forming element SP-1 site; oligo 840 fragment | Sp1 transcription factor -chr11 5288268 5288288 protein_bind: speckle type BTB/POZ protein 0 + 5288268 5288288 192,0,0 protein_binding_site HS4 CACC- or TEF-2-binding site; oligo 840 fragment 109580095|GeneID:109580095 2027748|PMID:2027748 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748] HS4 CACC- or TEF-2-binding site; oligo 840 fragment | speckle type BTB/POZ protein -chr11 5288293 5288311 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 5288293 5288311 192,0,0 protein_binding_site HS4 HS-forming element AP-1/NF-E2 site; oligo 810 fragment 109580095|GeneID:109580095 2027748|PMID:2027748,7828582|PMID:7828582 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748, PMID:7828582] required for HS4 formation in stably transfected MEL cells HS4 HS-forming element AP-1/NF-E2 site; oligo 810 fragment | required for HS4 formation in stably transfected MEL cells | Jun proto-oncogene, AP-1 transcription factor subunit -chr11 5288293 5288311 protein_bind: nuclear factor, erythroid 2 0 + 5288293 5288311 192,0,0 protein_binding_site HS4 HS-forming element AP-1/NF-E2 site; oligo 810 fragment 109580095|GeneID:109580095 2027748|PMID:2027748,7828582|PMID:7828582 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2027748, PMID:7828582] required for HS4 formation in stably transfected MEL cells HS4 HS-forming element AP-1/NF-E2 site; oligo 810 fragment | required for HS4 formation in stably transfected MEL cells | nuclear factor, erythroid 2 -chr11 5288337 5288367 protein_bind: recombination signal binding protein for immunoglobulin kappa J region 0 + 5288337 5288367 192,0,0 protein_binding_site HS4 CBF1 binding site 109580095|GeneID:109580095 9727046|PMID:9727046 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9727046] HS4 CBF1 binding site | recombination signal binding protein for immunoglobulin kappa J region -chr11 5288449 5288478 protein_bind: runt related transcription factor 1 0 + 5288449 5288478 192,0,0 protein_binding_site 5'HS4 RUNX1 allele-specific palindromic binding site 109580095|GeneID:109580095 27492765|PMID:27492765 EXISTENCE:protein binding evidence [ECO:0000024][PMID:27492765] 5'HS4 RUNX1 allele-specific palindromic binding site | runt related transcription factor 1 -chr11 5289114 5292124 insulator 0 + 5289114 5292124 0,128,128 region 3 kb 5'HS5 fragment in the micro-gamma-5 transgene; HindIII-BamHI betaGlb-MAR or beta-MAR fragment 109580095|GeneID:109580095 8112598|PMID:8112598 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8112598] protects an Agamma promoter transgene from position effects in transgenic mice but only when it brackets the transgene; insulates against position effects and confers high levels of copy number-dependent transcription on a polyoma enhancer in stably transfected HT1080 cells 3 kb 5'HS5 fragment in the micro-gamma-5 transgene; HindIII-BamHI betaGlb-MAR or beta-MAR fragment | protects an Agamma promoter transgene from position effects in transgenic mice but only when it brackets the transgene; insulates against position effects and confers high levels of copy number-dependent transcription on a polyoma enhancer in stably transfected HT1080 cells -chr11 5289326 5290163 insulator 0 + 5289326 5290163 0,128,128 region 5'HS5A fragment in micro-gamma-5A transgene 109580095|GeneID:109580095 12034837|PMID:12034837 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:12034837] protects a position-sensitive Agamma promoter transgene from position effects in embryonic but not adult stage transgenic mice; not copy number-dependent 5'HS5A fragment in micro-gamma-5A transgene | protects a position-sensitive Agamma promoter transgene from position effects in embryonic but not adult stage transgenic mice; not copy number-dependent -chr11 5289425 5292315 matrix_attachment_region 0 + 5289425 5292315 0,128,128 region EcoRI-BglII pGSE271 fragment b SAR encompassing 5'HS5 109580095|GeneID:109580095 2559410|PMID:2559410,3208739|PMID:3208739 EXISTENCE:fractionation evidence [ECO:0000100][PMID:3208739, PMID:2559410] associates with the nuclear scaffold EcoRI-BglII pGSE271 fragment b SAR encompassing 5'HS5 | associates with the nuclear scaffold -chr11 5289470 5292124 enhancer_blocking_element 0 + 5289470 5292124 0,128,128 insulator 2.6 kb HS5 HindIII fragment 109580095|GeneID:109580095 14645507|PMID:14645507 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:14645507] developmental, stage-specific enhancer-blocking activity in transgenic mice 2.6 kb HS5 HindIII fragment | developmental, stage-specific enhancer-blocking activity in transgenic mice -chr11 5290090 5290490 matrix_attachment_region 0 + 5290090 5290490 0,128,128 region 393 bp HS5 amplicon showing matrix enrichment in K562 cell EcoRI/HindIII- and EcoRI/BamHI-digested DNA fractions 109580095|GeneID:109580095 12799453|PMID:12799453 EXISTENCE:fractionation evidence [ECO:0000100][PMID:12799453] 393 bp HS5 amplicon showing matrix enrichment in K562 cell EcoRI/HindIII- and EcoRI/BamHI-digested DNA fractions -chr11 5290099 5290139 protein_bind: GATA binding protein 1 0 + 5290099 5290139 192,0,0 protein_binding_site (GATA)7 5a sequence 109580095|GeneID:109580095 10936858|PMID:10936858 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10936858] represses HS2 enhancer activity (GATA)7 5a sequence | represses HS2 enhancer activity | GATA binding protein 1 -chr11 5290099 5290139 silencer 0 + 5290099 5290139 0,128,128 silencer (GATA)7 5a sequence 109580095|GeneID:109580095 10936858|PMID:10936858 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10936858] represses HS2 enhancer activity in transfected K562 and HEL cells (GATA)7 5a sequence | represses HS2 enhancer activity in transfected K562 and HEL cells -chr11 5290803 5291803 DNase_I_hypersensitive_site 0 + 5290803 5291803 0,128,128 region 5'HS5, also known as HS5, HSS5, HSV or -21.4 hypersensitive site; not exclusively erythroid; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 2370867|PMID:2370867,3879975|PMID:3879975,12941700|PMID:12941700 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2370867, PMID:3879975, PMID:12941700] enhancer-blocking activity 5'HS5, also known as HS5, HSS5, HSV or -21.4 hypersensitive site; not exclusively erythroid; the nucleotide coordinates are approximate for this feature | enhancer-blocking activity -chr11 5290877 5292124 transcriptional_cis_regulatory_region 0 + 5290877 5292124 0,128,128 region 1.2 kb HS5 fragment in the HS5-epsilon-p-CAT construct 109580095|GeneID:109580095 9878258|PMID:9878258 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9878258] synergizes with the ERV-9 LTR enhancer in stably transfected K562 cells 1.2 kb HS5 fragment in the HS5-epsilon-p-CAT construct | synergizes with the ERV-9 LTR enhancer in stably transfected K562 cells -chr11 5291403 5291475 enhancer_blocking_element 0 + 5291403 5291475 0,128,128 insulator h5'HS5 enhancer-blocking fragment 109580095|GeneID:109580095 11997516|PMID:11997516 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11997516] blocks activation of the Agamma-globin promoter by the mouse 5'HS2 enhancer h5'HS5 enhancer-blocking fragment | blocks activation of the Agamma-globin promoter by the mouse 5'HS2 enhancer -chr11 5291403 5291475 protein_bind: CCCTC-binding factor 0 + 5291403 5291475 192,0,0 protein_binding_site 5'HS5 CTCF-binding oligonucleotide 109580095|GeneID:109580095 11997516|PMID:11997516,12861010|PMID:12861010,18461170|PMID:18461170 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11997516, PMID:12861010, PMID:18461170] enhancer-blocking activity 5'HS5 CTCF-binding oligonucleotide | enhancer-blocking activity | CCCTC-binding factor -chr11 5293259 5294363 enhancer 0 + 5293259 5294363 0,128,128 enhancer 1.1 kb fragment of the LTR-GFP construct spanning 14 U3 enhancer repeats, the U3 promoter, and the R and U5 regions of the ERV-9 LTR 109580095|GeneID:109580095 9878258|PMID:9878258,11836419|PMID:11836419 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9878258, PMID:11836419] transcriptional enhancer in transfected K562, embryonic and hematopoietic cells, and in oocytes and progenitor cells of transgenic zebrafish; activates transcription of downstream DNA preferentially in erythroid cells 1.1 kb fragment of the LTR-GFP construct spanning 14 U3 enhancer repeats, the U3 promoter, and the R and U5 regions of the ERV-9 LTR | transcriptional enhancer in transfected K562, embryonic and hematopoietic cells, and in oocytes and progenitor cells of transgenic zebrafish; activates transcription of downstream DNA preferentially in erythroid cells -chr11 5293259 5294954 retrotransposon:LTR12C 0 + 5293259 5294954 0,0,192 mobile_genetic_element ERV-9 erythroid enhancer upstream of 5'HS5 109580095|GeneID:109580095 ERV-9 erythroid enhancer upstream of 5'HS5 -chr11 5293619 5294964 enhancer 0 + 5293619 5294964 0,128,128 enhancer (E-P-r)-GFP construct fragment containing the U3 enhancer and promoter and 5' half of the R region 109580095|GeneID:109580095 11836419|PMID:11836419 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11836419] ERV-9 LTR enhancer activity in various embryonic tissues and in adult blood lineage cells (E-P-r)-GFP construct fragment containing the U3 enhancer and promoter and 5' half of the R region | ERV-9 LTR enhancer activity in various embryonic tissues and in adult blood lineage cells -chr11 5293674 5293762 promoter 0 + 5293674 5293762 0,128,128 promoter U3 promoter region in the ERV-9 LTR 109580095|GeneID:109580095 11836419|PMID:11836419 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11836419] transcription of the R region and downstream sequence U3 promoter region in the ERV-9 LTR | transcription of the R region and downstream sequence -chr11 5293699 5293705 TATA_box 0 + 5293699 5293705 0,128,128 TATA_box AATAAA motif 25 bases upstream of the transcription initiation site 109580095|GeneID:109580095 9878258|PMID:9878258,11836419|PMID:11836419 EXISTENCE:motif similarity evidence [ECO:0000028][PMID:9878258, PMID:11836419] TATA box for the U3 promoter in the ERV-9 LTR AATAAA motif 25 bases upstream of the transcription initiation site | TATA box for the U3 promoter in the ERV-9 LTR -chr11 5293702 5293763 protein_bind: GATA binding protein 2 0 + 5293702 5293763 192,0,0 protein_binding_site GATA-2-binding promoter probe P 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] GATA-2-binding promoter probe P | GATA binding protein 2 -chr11 5293702 5293763 protein_bind: Sp1 transcription factor 0 + 5293702 5293763 192,0,0 protein_binding_site Sp1-binding promoter probe P 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] Sp1-binding promoter probe P | Sp1 transcription factor -chr11 5293702 5293763 protein_bind: nuclear transcription factor Y subunit 0 + 5293702 5293763 192,0,0 protein_binding_site NF-Y-binding promoter probe P 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] NF-Y-binding promoter probe P | nuclear transcription factor Y subunit -chr11 5293925 5293977 protein_bind: GATA binding protein 2 0 + 5293925 5293977 192,0,0 protein_binding_site E2 GATA-2-binding probe 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E2 GATA-2-binding probe | GATA binding protein 2 -chr11 5294014 5294051 protein_bind: GATA binding protein 2 0 + 5294014 5294051 192,0,0 protein_binding_site E4 GATA-2-binding probe 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E4 GATA-2-binding probe | GATA binding protein 2 -chr11 5294014 5294051 protein_bind: nuclear transcription factor Y subunit 0 + 5294014 5294051 192,0,0 protein_binding_site E2 NF-Y-binding probe; binds to CCAAT motif 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E2 NF-Y-binding probe; binds to CCAAT motif | nuclear transcription factor Y subunit -chr11 5294015 5294041 protein_bind: myeloid zinc finger 1 0 + 5294015 5294041 192,0,0 protein_binding_site E4 (MZF) MZF1-binding probe 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E4 (MZF) MZF1-binding probe | myeloid zinc finger 1 -chr11 5294085 5294137 protein_bind: GATA binding protein 2 0 + 5294085 5294137 192,0,0 protein_binding_site E2 GATA-2-binding probe 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E2 GATA-2-binding probe | GATA binding protein 2 -chr11 5294085 5294137 protein_bind: nuclear transcription factor Y subunit 0 + 5294085 5294137 192,0,0 protein_binding_site E2 NF-Y-binding probe; binds to CCAAT motif 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E2 NF-Y-binding probe; binds to CCAAT motif | nuclear transcription factor Y subunit -chr11 5294133 5294174 protein_bind: GATA binding protein 2 0 + 5294133 5294174 192,0,0 protein_binding_site E1 GATA-2-binding probe 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E1 GATA-2-binding probe | GATA binding protein 2 -chr11 5294133 5294174 protein_bind: nuclear transcription factor Y subunit 0 + 5294133 5294174 192,0,0 protein_binding_site E1 NF-Y-binding probe; binds to CCAAT motif 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E1 NF-Y-binding probe; binds to CCAAT motif | nuclear transcription factor Y subunit -chr11 5294243 5294295 protein_bind: GATA binding protein 2 0 + 5294243 5294295 192,0,0 protein_binding_site E2 GATA-2-binding probe 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E2 GATA-2-binding probe | GATA binding protein 2 -chr11 5294243 5294295 protein_bind: nuclear transcription factor Y subunit 0 + 5294243 5294295 192,0,0 protein_binding_site E2 NF-Y-binding probe; binds to CCAAT motif 109580095|GeneID:109580095 16105833|PMID:16105833 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16105833] E2 NF-Y-binding probe; binds to CCAAT motif | nuclear transcription factor Y subunit -chr11 5297386 5298186 DNase_I_hypersensitive_site 0 + 5297386 5298186 0,128,128 region 5'HS6, also known as HS6 or HSVI; observed in fetal liver but not fetal brain; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 10220430|PMID:10220430 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10220430] 5'HS6, also known as HS6 or HSVI; observed in fetal liver but not fetal brain; the nucleotide coordinates are approximate for this feature -chr11 5303386 5304186 DNase_I_hypersensitive_site 0 + 5303386 5304186 0,128,128 region 5'HS7, also known as HS7 or HSVII; observed in fetal liver but not fetal brain; the nucleotide coordinates are approximate for this feature 109580095|GeneID:109580095 10220430|PMID:10220430 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10220430] 5'HS7, also known as HS7 or HSVII; observed in fetal liver but not fetal brain; the nucleotide coordinates are approximate for this feature -chr11 5380539 5381020 DNase_I_hypersensitive_site 0 + 5380539 5381020 0,128,128 region HS-111; the nucleotide coordinates are approximate for this feature 106010958|GeneID:106010958 17654503|PMID:17654503,19958188|PMID:19958188 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:19958188, PMID:17654503] HS-111; the nucleotide coordinates are approximate for this feature -chr11 8204498 8209136 enhancer 0 + 8204498 8209136 0,128,128 enhancer VISTA enhancer hs1859 110121453|GeneID:110121453 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[5/8] | midbrain (mesencephalon)[8/8] | forebrain[8/8] | heart[7/8] | blood vessels[5/8] | liver[4/8] VISTA enhancer hs1859 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[5/8] | midbrain (mesencephalon)[8/8] | forebrain[8/8] | heart[7/8] | blood vessels[5/8] | liver[4/8] -chr11 12677059 12677639 enhancer 0 + 12677059 12677639 0,128,128 enhancer amplified fragment containing the chr11:12698857-12698926 (GRCh37) CAGE region 108254681|GeneID:108254681,7003|GeneID:7003 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr11:12698857-12698926 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr11 12677309 12677379 CAGE_cluster 0 + 12677309 12677379 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254681|GeneID:108254681,7003|GeneID:7003 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 12680194 12680754 enhancer 0 + 12680194 12680754 0,128,128 enhancer amplified fragment containing the chr11:12701917-12702070 (GRCh37) CAGE region 108254681|GeneID:108254681,7003|GeneID:7003 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr11:12701917-12702070 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr11 12680369 12680523 CAGE_cluster 0 + 12680369 12680523 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254681|GeneID:108254681,7003|GeneID:7003 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 12843784 12846999 enhancer 0 + 12843784 12846999 0,128,128 enhancer VISTA enhancer hs1314 110121343|GeneID:110121343,7003|GeneID:7003 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[9/12] | dorsal root ganglion[9/12] | forebrain[9/12] | limb[8/12] | branchial arch[7/12] VISTA enhancer hs1314 | enhancer in: midbrain (mesencephalon)[9/12] | dorsal root ganglion[9/12] | forebrain[9/12] | limb[8/12] | branchial arch[7/12] -chr11 13495929 13496680 promoter 0 + 13495929 13496680 0,128,128 promoter BglII fragment 107988023|GeneID:107988023 3785180|PMID:3785180 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:3785180] downregulated by vitamin D and calcium BglII fragment | downregulated by vitamin D and calcium -chr11 13495941 13497001 promoter 0 + 13495941 13497001 0,128,128 promoter -1006 promoter fragment 107988023|GeneID:107988023 20558332|PMID:20558332 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20558332] -1006 promoter fragment -chr11 13495993 13496156 promoter 0 + 13495993 13496156 0,128,128 promoter AflII/PstI fragment 107988023|GeneID:107988023 1977134|PMID:1977134 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1977134] contains cAMP response element; activated by cAMP AflII/PstI fragment | contains cAMP response element; activated by cAMP -chr11 13496061 13496073 protein_bind: transcription factor 3 0 + 13496061 13496073 192,0,0 protein_binding_site nVDRE 107988023|GeneID:107988023 17095575|PMID:17095575 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17095575] important for downregulation in response to vitamin D nVDRE | important for downregulation in response to vitamin D | transcription factor 3 -chr11 13496061 13496073 response_element 0 + 13496061 13496073 0,128,128 regulatory_region nVDRE 107988023|GeneID:107988023 17095575|PMID:17095575 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17095575] mediates downregulation by vitamin D nVDRE | mediates downregulation by vitamin D -chr11 13496092 13496115 protein_bind: nuclear transcription factor Y 0 + 13496092 13496115 192,0,0 protein_binding_site VDRE 107988023|GeneID:107988023 15297458|PMID:15297458 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15297458] competes with Vdr/Rxr association at adjacent site; positive regulation of promoter activity VDRE | competes with Vdr/Rxr association at adjacent site; positive regulation of promoter activity | nuclear transcription factor Y -chr11 13496096 13496121 protein_bind: vitamin D (1,25- dihydroxyvitamin D3) receptor 0 + 13496096 13496121 192,0,0 protein_binding_site p15 probe for PTH DRE 107988023|GeneID:107988023 1325645|PMID:1325645 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1325645] downregulates promoter activity p15 probe for PTH DRE | downregulates promoter activity | vitamin D (1,25- dihydroxyvitamin D3) receptor -chr11 13496125 13496144 protein_bind: Sp family transcription factors 0 + 13496125 13496144 192,0,0 protein_binding_site 107988023|GeneID:107988023 15001549|PMID:15001549 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15001549] positive regulation of promoter activity positive regulation of promoter activity | Sp family transcription factors -chr11 13496125 13496144 protein_bind: nuclear transcription factor Y 0 + 13496125 13496144 192,0,0 protein_binding_site 107988023|GeneID:107988023 15001549|PMID:15001549 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15001549] positive regulation of promoter activity positive regulation of promoter activity | nuclear transcription factor Y -chr11 13496370 13496392 enhancer 0 + 13496370 13496392 0,128,128 enhancer site B 107988023|GeneID:107988023 20558332|PMID:20558332 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20558332] promotes activity of basal promoter site B | promotes activity of basal promoter -chr11 13496370 13496392 protein_bind: glial cells missing homolog 2 0 + 13496370 13496392 192,0,0 protein_binding_site site B 107988023|GeneID:107988023 20558332|PMID:20558332 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20558332] positive regulation of promoter activity site B | positive regulation of promoter activity | glial cells missing homolog 2 -chr11 13496982 13497003 protein_bind: glial cells missing homolog 2 0 + 13496982 13497003 192,0,0 protein_binding_site site A 107988023|GeneID:107988023 20558332|PMID:20558332 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20558332] site A | glial cells missing homolog 2 -chr11 13499316 13500482 silencer 0 + 13499316 13500482 0,128,128 silencer AvaII fragment 106736470|GeneID:106736470 1939213|PMID:1939213 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1939213] negative regulator of PTH promoter AvaII fragment | negative regulator of PTH promoter -chr11 13499317 13499418 silencer 0 + 13499317 13499418 0,128,128 silencer Element 1 (pcW10 fragment) 106736470|GeneID:106736470 1939213|PMID:1939213 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1939213] Element 1 (pcW10 fragment) -chr11 13499330 13499340 response_element 0 + 13499330 13499340 0,128,128 regulatory_region nCARE-A or nCARE1 106736470|GeneID:106736470 7961715|PMID:7961715 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7961715] negative calcium response element nCARE-A or nCARE1 | negative calcium response element -chr11 13499331 13499349 protein_bind: APEX nuclease (multifunctional DNA repair enzyme) 1; X-ray repair complementing defective repair in Chinese hamster cells 5 and 6 0 + 13499331 13499349 192,0,0 protein_binding_site oligo A 106736470|GeneID:106736470 7961715|PMID:7961715,8621488|PMID:8621488 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7961715, PMID:8621488] calcium-mediated suppression of expression oligo A | calcium-mediated suppression of expression | APEX nuclease (multifunctional DNA repair enzyme) 1; X-ray repair complementing defective repair in Chinese hamster cells 5 and 6 -chr11 13499907 13500189 SINE:AluJ 0 + 13499907 13500189 0,0,192 mobile_genetic_element 106736470|GeneID:106736470 mobile_genetic_element -chr11 13500151 13500269 silencer 0 + 13500151 13500269 0,128,128 silencer Element 2 (pcR9 fragment) 106736470|GeneID:106736470 1939213|PMID:1939213 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1939213] Element 2 (pcR9 fragment) -chr11 13500169 13500193 protein_bind: APEX nuclease (multifunctional DNA repair enzyme) 1 0 + 13500169 13500193 192,0,0 protein_binding_site oligo B 106736470|GeneID:106736470 7961715|PMID:7961715 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7961715] oligo B | APEX nuclease (multifunctional DNA repair enzyme) 1 -chr11 13500174 13500189 response_element 0 + 13500174 13500189 0,128,128 regulatory_region nCaRE-B or nCARE2 106736470|GeneID:106736470 7961715|PMID:7961715 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7961715] negative calcium response element nCaRE-B or nCARE2 | negative calcium response element -chr11 15565494 15566768 enhancer 0 + 15565494 15566768 0,128,128 enhancer VISTA enhancer hs692 110120922|GeneID:110120922,105376569|GeneID:105376569 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/9] VISTA enhancer hs692 | enhancer in: forebrain[9/9] -chr11 16169318 16170907 enhancer 0 + 16169318 16170907 0,128,128 enhancer VISTA enhancer hs1720 110121434|GeneID:110121434 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[5/8] VISTA enhancer hs1720 | enhancer in: branchial arch[5/8] -chr11 16290046 16291335 enhancer 0 + 16290046 16291335 0,128,128 enhancer VISTA enhancer hs883 110120947|GeneID:110120947 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs883 | enhancer in: forebrain[6/6] -chr11 16294660 16296016 enhancer 0 + 16294660 16296016 0,128,128 enhancer VISTA enhancer hs236 110120848|GeneID:110120848 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: melanocytes[11/13] VISTA enhancer hs236 | enhancer in: melanocytes[11/13] -chr11 16356230 16357544 enhancer 0 + 16356230 16357544 0,128,128 enhancer VISTA enhancer hs717 110120926|GeneID:110120926 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/10] | trigeminal V (ganglion, cranial)[3/10] | cranial nerve[3/10] VISTA enhancer hs717 | enhancer in: dorsal root ganglion[4/10] | trigeminal V (ganglion, cranial)[3/10] | cranial nerve[3/10] -chr11 16401722 16404491 enhancer 0 + 16401722 16404491 0,128,128 enhancer VISTA enhancer hs1301 110121340|GeneID:110121340 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs1301 | enhancer in: forebrain[4/4] -chr11 16476370 16477487 promoter 0 + 16476370 16477487 0,128,128 promoter -1116 promoter 108281125|GeneID:108281125 20852263|PMID:20852263 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20852263] -1116 promoter -chr11 16477118 16477154 promoter 0 + 16477118 16477154 0,128,128 promoter 1116-S6 fragment 108281125|GeneID:108281125 20852263|PMID:20852263 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20852263] has promoter activity in vitro 1116-S6 fragment | has promoter activity in vitro -chr11 16477122 16477153 protein_bind: SRY-box 6 0 + 16477122 16477153 192,0,0 protein_binding_site SOX6 site 108281125|GeneID:108281125 20852263|PMID:20852263 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20852263] negative regulation of transcription SOX6 site | negative regulation of transcription | SRY-box 6 -chr11 16891588 16896198 enhancer 0 + 16891588 16896198 0,128,128 enhancer VISTA enhancer hs2096 110121483|GeneID:110121483 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/7] VISTA enhancer hs2096 | enhancer in: other[4/7] -chr11 17412969 17415128 enhancer 0 + 17412969 17415128 0,128,128 enhancer VISTA enhancer hs1977 110121471|GeneID:110121471 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: pancreas[10/14] VISTA enhancer hs1977 | enhancer in: pancreas[10/14] -chr11 19172536 19174989 enhancer 0 + 19172536 19174989 0,128,128 enhancer VISTA enhancer hs2144 110121487|GeneID:110121487,54503|GeneID:54503 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/13] VISTA enhancer hs2144 | enhancer in: hindbrain (rhombencephalon)[3/13] -chr11 19206384 19210096 enhancer 0 + 19206384 19210096 0,128,128 enhancer VISTA enhancer hs2145 110121488|GeneID:110121488,105376580|GeneID:105376580 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/6] | tail[5/6] VISTA enhancer hs2145 | enhancer in: heart[4/6] | tail[5/6] -chr11 26965118 26970390 non-LTR retrotransposon:L1PA5 0 + 26965118 26970390 0,0,192 mobile_genetic_element direction; forward 108178983|GeneID:108178983 direction; forward -chr11 26965231 26965251 non_allelic_homologous 0 + 26965231 26965251 160,82,45 recombination_feature duplication patients 3-4 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-4 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a duplication 108178983|GeneID:108178983 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patients 3-4 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-4 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a duplication -chr11 26965231 26965419 non_allelic_homologous 0 + 26965231 26965419 160,82,45 recombination_feature duplication patient 2 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a duplication 108178983|GeneID:108178983 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a duplication -chr11 26965454 26965629 non_allelic_homologous 0 + 26965454 26965629 160,82,45 recombination_feature duplication patient 1 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a duplication 108178983|GeneID:108178983 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 1 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a duplication -chr11 26966164 26966232 non_allelic_homologous 0 + 26966164 26966232 160,82,45 recombination_feature deletion patients 1-2 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-2 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a deletion 108178983|GeneID:108178983 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1-2 11p14.2 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-2 11p14.2 proximal NAHR recombination breakpoint sub-region within the 11p14.2 proximal LINE-mediated recombination region, resulting in a deletion -chr11 27219703 27225732 non-LTR retrotransposon:L1PA2 0 + 27219703 27225732 0,0,192 mobile_genetic_element direction; forward 108178984|GeneID:108178984 direction; forward -chr11 27219818 27219838 non_allelic_homologous 0 + 27219818 27219838 160,82,45 recombination_feature duplication patients 3-4 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-4 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a duplication 108178984|GeneID:108178984,105376600|GeneID:105376600 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patients 3-4 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-4 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a duplication -chr11 27219818 27220006 non_allelic_homologous 0 + 27219818 27220006 160,82,45 recombination_feature duplication patient 2 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a duplication 108178984|GeneID:108178984,105376600|GeneID:105376600 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a duplication -chr11 27220041 27220216 non_allelic_homologous 0 + 27220041 27220216 160,82,45 recombination_feature duplication patient 1 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a duplication 108178984|GeneID:108178984,105376600|GeneID:105376600 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 1 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a duplication -chr11 27220751 27220819 non_allelic_homologous 0 + 27220751 27220819 160,82,45 recombination_feature deletion patients 1-2 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-2 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a deletion 108178984|GeneID:108178984,105376600|GeneID:105376600 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1-2 11p14.2 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-2 11p14.2 distal NAHR recombination breakpoint sub-region within the 11p14.2 distal LINE-mediated recombination region, resulting in a deletion -chr11 31477322 31478893 enhancer 0 + 31477322 31478893 0,128,128 enhancer PAX6_hs8 or HCNE8 106010957|GeneID:106010957 19073165|PMID:19073165 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:19073165] enhancer in midbrain PAX6_hs8 or HCNE8 | enhancer in midbrain -chr11 31480487 31481610 enhancer 0 + 31480487 31481610 0,128,128 enhancer VISTA enhancer hs863 106010957|GeneID:106010957 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] VISTA enhancer hs863 | enhancer in: midbrain (mesencephalon)[7/8] -chr11 31601274 31602571 enhancer 0 + 31601274 31602571 0,128,128 enhancer VISTA enhancer hs565; includes RB conserved element and PAX6_hs7 105980005|GeneID:105980005,26610|GeneID:26610 17014839|PMID:17014839,17130149|PMID:17130149,19073165|PMID:19073165 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17014839, PMID:17130149, PMID:19073165] enhancer in: midbrain (mesencephalon)[8/10] | forebrain[8/10] VISTA enhancer hs565; includes RB conserved element and PAX6_hs7 | enhancer in: midbrain (mesencephalon)[8/10] | forebrain[8/10] -chr11 31640804 31661095 DNase_I_hypersensitive_site 0 + 31640804 31661095 0,128,128 region region spanning HS 1-8; the nucleotide coordinates are approximate for this feature 105941491|GeneID:105941491,26610|GeneID:26610 11590122|PMID:11590122 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:11590122] region spanning HS 1-8; the nucleotide coordinates are approximate for this feature -chr11 31645523 31647360 enhancer 0 + 31645523 31647360 0,128,128 enhancer HS6 105941491|GeneID:105941491,26610|GeneID:26610 22220192|PMID:22220192 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22220192] enhancer in precerebellar neuroepithelium and anterior extramural stream as well as some optic and olfactory cells HS6 | enhancer in precerebellar neuroepithelium and anterior extramural stream as well as some optic and olfactory cells -chr11 31648251 31651659 enhancer 0 + 31648251 31651659 0,128,128 enhancer HS5+ 105941491|GeneID:105941491,26610|GeneID:26610 22220192|PMID:22220192 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22220192] enhancer in olfactory epithelium, diencephalon, and other areas of the brain and eye HS5+ | enhancer in olfactory epithelium, diencephalon, and other areas of the brain and eye -chr11 31652511 31657084 enhancer 0 + 31652511 31657084 0,128,128 enhancer 4.5 kb HS234 fragment 105941491|GeneID:105941491,26610|GeneID:26610 11590122|PMID:11590122 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11590122] enhancer in optic primordium, retina, and olfactory tissue 4.5 kb HS234 fragment | enhancer in optic primordium, retina, and olfactory tissue -chr11 31663287 31665798 enhancer 0 + 31663287 31665798 0,128,128 enhancer 2.5 kb EI fragment 105941491|GeneID:105941491,26610|GeneID:26610 11590122|PMID:11590122 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11590122] enhancer in the lens, diencephalon, and hindbrain 2.5 kb EI fragment | enhancer in the lens, diencephalon, and hindbrain -chr11 31663795 31664631 enhancer 0 + 31663795 31664631 0,128,128 enhancer SIMO cis-element 105941491|GeneID:105941491,26610|GeneID:26610 24290376|PMID:24290376 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:24290376] enhancer in early surface ectoderm, diencephalon, lens, rhomencephalon, and retina SIMO cis-element | enhancer in early surface ectoderm, diencephalon, lens, rhomencephalon, and retina -chr11 31663808 31665336 enhancer 0 + 31663808 31665336 0,128,128 enhancer VISTA enhancer hs234; also known as PAX6_hs6 105941491|GeneID:105941491,26610|GeneID:26610 17130149|PMID:17130149,19073165|PMID:19073165 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149, PMID:19073165] enhancer in: midbrain (mesencephalon)[10/21] | eye[9/21] VISTA enhancer hs234; also known as PAX6_hs6 | enhancer in: midbrain (mesencephalon)[10/21] | eye[9/21] -chr11 31664095 31664330 conserved_region 0 + 31664095 31664330 192,0,192 sequence_feature conserved region; ultraconserved element uc.325 105941491|GeneID:105941491,26610|GeneID:26610 15131266|PMID:15131266 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:15131266] conserved region; ultraconserved element uc.325 -chr11 31664140 31664441 enhancer 0 + 31664140 31664441 0,128,128 enhancer PAX6_hs6A fragment 105941491|GeneID:105941491,26610|GeneID:26610 19073165|PMID:19073165 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:19073165] enhancer in optic tectum, hindbrain, spinal chord, lateral line and lens PAX6_hs6A fragment | enhancer in optic tectum, hindbrain, spinal chord, lateral line and lens -chr11 31664385 31664404 protein_bind: paired box 6 0 + 31664385 31664404 192,0,0 protein_binding_site 105941491|GeneID:105941491,26610|GeneID:26610 24290376|PMID:24290376 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24290376] promotes expression of PAX6 in lens promotes expression of PAX6 in lens | paired box 6 -chr11 31710932 31711923 enhancer 0 + 31710932 31711923 0,128,128 enhancer B3 105980073|GeneID:105980073,26610|GeneID:26610 11850181|PMID:11850181 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11850181] enhancer in the central portion of the neural retina B3 | enhancer in the central portion of the neural retina -chr11 31710932 31713865 enhancer 0 + 31710932 31713865 0,128,128 enhancer B123 105980073|GeneID:105980073,26610|GeneID:26610 11850181|PMID:11850181 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11850181] enhancer in the pretectum, neural retina, and olfactory region B123 | enhancer in the pretectum, neural retina, and olfactory region -chr11 31712424 31713393 conserved_region 0 + 31712424 31713393 192,0,192 sequence_feature conserved region; B1 PCR fragment; may show DNase I hypersensitivity in mouse (PMID:22220192) 105980073|GeneID:105980073,26610|GeneID:26610 11850181|PMID:11850181,22220192|PMID:22220192 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:11850181] conserved region; B1 PCR fragment; may show DNase I hypersensitivity in mouse (PMID:22220192) -chr11 31763010 31765309 enhancer 0 + 31763010 31765309 0,128,128 enhancer E60Z fragment containing E60A and E60UCS/E60B elements 105980003|GeneID:105980003,26610|GeneID:26610 22220192|PMID:22220192 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22220192] enhancer in the eye, telencephalon, and diencephalon E60Z fragment containing E60A and E60UCS/E60B elements | enhancer in the eye, telencephalon, and diencephalon -chr11 31763028 31763735 enhancer 0 + 31763028 31763735 0,128,128 enhancer E60A element 105980003|GeneID:105980003,26610|GeneID:26610 18282108|PMID:18282108 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:18282108] enhancer in the early telencephalon, optic cup, and ventral thalamus E60A element | enhancer in the early telencephalon, optic cup, and ventral thalamus -chr11 31763747 31765309 enhancer 0 + 31763747 31765309 0,128,128 enhancer E60UCS/E60B element 105980003|GeneID:105980003,26610|GeneID:26610 22220192|PMID:22220192 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22220192] enhancer in the telencephalon E60UCS/E60B element | enhancer in the telencephalon -chr11 31764131 31764446 conserved_region 0 + 31764131 31764446 192,0,192 sequence_feature conserved region; ultraconserved element uc.326 105980003|GeneID:105980003,26610|GeneID:26610 15131266|PMID:15131266 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:15131266] conserved region; ultraconserved element uc.326 -chr11 31764735 31765003 conserved_region 0 + 31764735 31765003 192,0,192 sequence_feature conserved region; ultraconserved element uc.327 105980003|GeneID:105980003,26610|GeneID:26610 15131266|PMID:15131266 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:15131266] conserved region; ultraconserved element uc.327 -chr11 31794903 31796873 enhancer 0 + 31794903 31796873 0,128,128 enhancer VISTA enhancer hs1082 106007485|GeneID:106007485 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/14] | hindbrain (rhombencephalon)[14/14] VISTA enhancer hs1082 | enhancer in: neural tube[10/14] | hindbrain (rhombencephalon)[14/14] -chr11 31795111 31795697 conserved_region 0 + 31795111 31795697 192,0,192 sequence_feature conserved region; CE4 106007485|GeneID:106007485 14732405|PMID:14732405 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:14732405] conserved region; CE4 -chr11 31795965 31796463 conserved_region 0 + 31795965 31796463 192,0,192 sequence_feature conserved region; CE3 106007485|GeneID:106007485 14732405|PMID:14732405 EXISTENCE:sequence similarity evidence [ECO:0000044][PMID:14732405] conserved region; CE3 -chr11 31797721 31798437 conserved_region 0 + 31797721 31798437 192,0,192 sequence_feature conserved region; CE2 106007485|GeneID:106007485 14732405|PMID:14732405 EXISTENCE:sequence similarity evidence [ECO:0000044][PMID:14732405] conserved region; CE2 -chr11 31799377 31799706 conserved_region 0 + 31799377 31799706 192,0,192 sequence_feature conserved region; CE1 106007485|GeneID:106007485 14732405|PMID:14732405 EXISTENCE:sequence similarity evidence [ECO:0000044][PMID:14732405] conserved region; CE1 -chr11 31804114 31804345 conserved_region 0 + 31804114 31804345 192,0,192 sequence_feature conserved region; ultraconserved element uc.328 106007493|GeneID:106007493 15131266|PMID:15131266 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:15131266] conserved region; ultraconserved element uc.328 -chr11 31804142 31804358 enhancer 0 + 31804142 31804358 0,128,128 enhancer ele4 106007493|GeneID:106007493 9883578|PMID:9883578 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9883578] enhancer of PAX6 in the spinal cord ele4 | enhancer of PAX6 in the spinal cord -chr11 31804142 31804358 silencer 0 + 31804142 31804358 0,128,128 silencer ele4 106007493|GeneID:106007493 9883578|PMID:9883578 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9883578] ele4 -chr11 31811104 31811514 promoter 0 + 31811104 31811514 0,128,128 promoter pSP fragment for P1/B promoter 106014249|GeneID:106014249 9013587|PMID:9013587,9757029|PMID:9757029,17251190|PMID:17251190 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9013587, PMID:9757029, PMID:17251190] pSP fragment for P1/B promoter -chr11 31811159 31811217 enhancer 0 + 31811159 31811217 0,128,128 enhancer E1E 106014249|GeneID:106014249 9013587|PMID:9013587,11574690|PMID:11574690 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9013587, PMID:11574690] E1E -chr11 31811177 31811193 protein_bind: transcription factor CP2 0 + 31811177 31811193 192,0,0 protein_binding_site EIE3 binding site 106014249|GeneID:106014249 11574690|PMID:11574690 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11574690] EIE3 binding site | transcription factor CP2 -chr11 31811296 31811315 protein_bind: paired box 6 0 + 31811296 31811315 192,0,0 protein_binding_site 106014249|GeneID:106014249 17251190|PMID:17251190 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17251190] autoregulation of PAX6 P1 promoter autoregulation of PAX6 P1 promoter | paired box 6 -chr11 31814376 31814631 silencer 0 + 31814376 31814631 0,128,128 silencer SX250 fragment 106014249|GeneID:106014249 9013587|PMID:9013587 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9013587] repressor of transcription SX250 fragment | repressor of transcription -chr11 31817802 31818075 promoter 0 + 31817802 31818075 0,128,128 promoter pSpB fragment for P0/A promoter 106014249|GeneID:106014249,440034|GeneID:440034 9757029|PMID:9757029,10079359|PMID:10079359 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9757029, PMID:10079359] pSpB fragment for P0/A promoter -chr11 31821792 31821948 enhancer 0 + 31821792 31821948 0,128,128 enhancer HETK fragment 106014249|GeneID:106014249,440034|GeneID:440034 10079359|PMID:10079359 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10079359] HETK fragment -chr11 31825815 31827240 enhancer 0 + 31825815 31827240 0,128,128 enhancer NSTK fragment 106014249|GeneID:106014249,440034|GeneID:440034 10079359|PMID:10079359 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10079359] NSTK fragment -chr11 31874047 31877516 enhancer 0 + 31874047 31877516 0,128,128 enhancer VISTA enhancer hs1531 110121388|GeneID:110121388,440034|GeneID:440034 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | midbrain (mesencephalon)[3/8] | forebrain[4/8] VISTA enhancer hs1531 | enhancer in: neural tube[8/8] | midbrain (mesencephalon)[3/8] | forebrain[4/8] -chr11 31967626 31968476 enhancer 0 + 31967626 31968476 0,128,128 enhancer VISTA enhancer hs855 110120941|GeneID:110120941 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/9] VISTA enhancer hs855 | enhancer in: forebrain[6/9] -chr11 32031480 32031869 enhancer 0 + 32031480 32031869 0,128,128 enhancer E-200 element 106029239|GeneID:106029239 23359656|PMID:23359656 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23359656] enhancer in olfactory bulbs, late olfactory tract, hindbrain, and cerebellum E-200 element | enhancer in olfactory bulbs, late olfactory tract, hindbrain, and cerebellum -chr11 32175489 32177439 enhancer 0 + 32175489 32177439 0,128,128 enhancer PAX6_hs2 or HCNE2 106029238|GeneID:106029238 19073165|PMID:19073165 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:19073165] enhancer in hindbrain PAX6_hs2 or HCNE2 | enhancer in hindbrain -chr11 32175943 32177188 enhancer 0 + 32175943 32177188 0,128,128 enhancer VISTA enhancer hs113 106029238|GeneID:106029238 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/12] VISTA enhancer hs113 | enhancer in: dorsal root ganglion[4/12] -chr11 32176445 32176752 conserved_region 0 + 32176445 32176752 192,0,192 sequence_feature conserved region; ultraconserved element uc.329 106029238|GeneID:106029238 15131266|PMID:15131266 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:15131266] conserved region; ultraconserved element uc.329 -chr11 32386894 32387152 enhancer 0 + 32386894 32387152 0,128,128 enhancer e258 fragment 106707173|GeneID:106707173 7890725|PMID:7890725 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7890725] enhancer in K562 hematopoietic cells e258 fragment | enhancer in K562 hematopoietic cells -chr11 32386894 32387243 enhancer 0 + 32386894 32387243 0,128,128 enhancer e350 fragment 106707173|GeneID:106707173 7890725|PMID:7890725,8132626|PMID:8132626 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8132626, PMID:7890725] enhancer in K562 hematopoietic cells e350 fragment | enhancer in K562 hematopoietic cells -chr11 32386940 32386971 protein_bind: GATA binding proteins 1 and 2 0 + 32386940 32386971 192,0,0 protein_binding_site GATA distal sites probe 106707173|GeneID:106707173 7890725|PMID:7890725,19212333|PMID:19212333 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7890725, PMID:19212333] GATA distal sites probe | GATA binding proteins 1 and 2 -chr11 32424512 32425300 silencer 0 + 32424512 32425300 0,128,128 silencer reported as 0.91 kb fragment 106707172|GeneID:106707172 7629096|PMID:7629096 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7629096] reported as 0.91 kb fragment -chr11 32424833 32425300 silencer 0 + 32424833 32425300 0,128,128 silencer 460 bp 5'delta3S4 fragment 106707172|GeneID:106707172 7629096|PMID:7629096 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7629096] 460 bp 5'delta3S4 fragment -chr11 32424895 32425169 SINE:AluSx 0 + 32424895 32425169 0,0,192 mobile_genetic_element 106707172|GeneID:106707172 required for silencer activity required for silencer activity -chr11 32426860 32427518 DNase_I_hypersensitive_site 0 + 32426860 32427518 0,128,128 region the nucleotide coordinates are approximate for this feature 106707172|GeneID:106707172 9361007|PMID:9361007 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9361007] the nucleotide coordinates are approximate for this feature -chr11 32427060 32427318 enhancer 0 + 32427060 32427318 0,128,128 enhancer 258 bp HindIII/BamHI fragment 106707172|GeneID:106707172 9361007|PMID:9361007 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9361007] enhancer in hematopoietic cells 258 bp HindIII/BamHI fragment | enhancer in hematopoietic cells -chr11 32427198 32427228 protein_bind: GATA binding protein 1 (globin transcription factor 1) and GATA binding protein 2 0 + 32427198 32427228 192,0,0 protein_binding_site GATA-A 106707172|GeneID:106707172 9361007|PMID:9361007 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9361007] required for enhancer activity GATA-A | required for enhancer activity | GATA binding protein 1 (globin transcription factor 1) and GATA binding protein 2 -chr11 32430847 32431239 promoter 0 + 32430847 32431239 0,128,128 promoter PvuII/HindIII fragment for promoter of AWT variant of WT1 107982234|GeneID:107982234 14681303|PMID:14681303 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14681303] PvuII/HindIII fragment for promoter of AWT variant of WT1 -chr11 32431709 32432710 DNase_I_hypersensitive_site 0 + 32431709 32432710 0,128,128 region hypersensitive site XI; the nucleotide coordinates are approximate for this feature 107982234|GeneID:107982234 9407061|PMID:9407061 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9407061] hypersensitive site XI; the nucleotide coordinates are approximate for this feature -chr11 32432883 32434084 DNase_I_hypersensitive_site 0 + 32432883 32434084 0,128,128 region hypersensitive site X; the nucleotide coordinates are approximate for this feature 107982234|GeneID:107982234 9407061|PMID:9407061 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9407061] hypersensitive site X; the nucleotide coordinates are approximate for this feature -chr11 32433162 32433232 protein_bind: CCCTC-binding factor 0 + 32433162 32433232 192,0,0 protein_binding_site F2/F3 overlap region; blocked by cytosine methylation 107982234|GeneID:107982234 17210670|PMID:17210670 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17210670] blocks activity of silencer F2/F3 overlap region; blocked by cytosine methylation | blocks activity of silencer | CCCTC-binding factor -chr11 32433179 32433317 silencer 0 + 32433179 32433317 0,128,128 silencer 134 nt Sau3AI fragment 107982234|GeneID:107982234 17210670|PMID:17210670 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17210670] bi-directional negative regulator of transcription; augmented by cytosine methylation 134 nt Sau3AI fragment | bi-directional negative regulator of transcription; augmented by cytosine methylation -chr11 32433268 32434002 promoter 0 + 32433268 32434002 0,128,128 promoter -647 to +87 WT1 antisense promoter 107982234|GeneID:107982234 7478583|PMID:7478583,10452544|PMID:10452544 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7478583, PMID:10452544] -647 to +87 WT1 antisense promoter -chr11 32433359 32433381 protein_bind: Wilms tumor 1 0 + 32433359 32433381 192,0,0 protein_binding_site -544 WT1 site 107982234|GeneID:107982234 10452544|PMID:10452544 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10452544] positive regulation of antisense promoter -544 WT1 site | positive regulation of antisense promoter | Wilms tumor 1 -chr11 32433723 32433745 protein_bind: Wilms tumor 1 0 + 32433723 32433745 192,0,0 protein_binding_site -180 WT1 site 107982234|GeneID:107982234 10452544|PMID:10452544 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10452544] positive regulation of antisense promoter -180 WT1 site | positive regulation of antisense promoter | Wilms tumor 1 -chr11 32434671 32435472 DNase_I_hypersensitive_site 0 + 32434671 32435472 0,128,128 region hypersensitive site IX; the nucleotide coordinates are approximate for this feature 107982234|GeneID:107982234 9407061|PMID:9407061 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9407061] hypersensitive site IX; the nucleotide coordinates are approximate for this feature -chr11 32435339 32435990 promoter 0 + 32435339 32435990 0,128,128 promoter PstI/HindIII fragment for -449 to +201 WT1 promoter; blocked by cytosine methylation (PMID:12761165) 107982234|GeneID:107982234 8045305|PMID:8045305,8132626|PMID:8132626,8414514|PMID:8414514,12761165|PMID:12761165 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8414514, PMID:8132626, PMID:8045305] PstI/HindIII fragment for -449 to +201 WT1 promoter; blocked by cytosine methylation (PMID:12761165) -chr11 32435339 32436538 promoter 0 + 32435339 32436538 0,128,128 promoter -996 to +199 fragment for WT1 promoter 107982234|GeneID:107982234 14988020|PMID:14988020 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14988020] -996 to +199 fragment for WT1 promoter -chr11 32435366 32435392 protein_bind: paired box 2 0 + 32435366 32435392 192,0,0 protein_binding_site proximal footprint; +377 to +402 107982234|GeneID:107982234 9178767|PMID:9178767 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9178767] proximal footprint; +377 to +402 | paired box 2 -chr11 32435410 32435470 protein_bind: Wilms tumor 1 0 + 32435410 32435470 192,0,0 protein_binding_site P2 site 107982234|GeneID:107982234 17634147|PMID:17634147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17634147] negatively regulates promoter activity P2 site | negatively regulates promoter activity | Wilms tumor 1 -chr11 32435579 32435612 enhancer 0 + 32435579 32435612 0,128,128 enhancer 33 nt fragment for -81 to -48 107982234|GeneID:107982234,51352|GeneID:51352 9006935|PMID:9006935 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9006935] 33 nt fragment for -81 to -48 -chr11 32435579 32435612 protein_bind: Sp1 transcription factor 0 + 32435579 32435612 192,0,0 protein_binding_site 33 nt fragment for -81 to -48 107982234|GeneID:107982234,51352|GeneID:51352 9006935|PMID:9006935 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9006935] promotes transcription 33 nt fragment for -81 to -48 | promotes transcription | Sp1 transcription factor -chr11 32435631 32435734 promoter 0 + 32435631 32435734 0,128,128 promoter 104 nt core WT1 promoter 107982234|GeneID:107982234,51352|GeneID:51352 8132626|PMID:8132626 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8132626] 104 nt core WT1 promoter -chr11 32435643 32436444 DNase_I_hypersensitive_site 0 + 32435643 32436444 0,128,128 region hypersensitive site VIII; the nucleotide coordinates are approximate for this feature 107982234|GeneID:107982234,51352|GeneID:51352 9407061|PMID:9407061 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9407061] hypersensitive site VIII; the nucleotide coordinates are approximate for this feature -chr11 32435686 32435701 protein_bind: Wilms tumor 1 0 + 32435686 32435701 192,0,0 protein_binding_site WT1-290 107982234|GeneID:107982234,51352|GeneID:51352 8621487|PMID:8621487 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8621487] negatively regulates promoter activity WT1-290 | negatively regulates promoter activity | Wilms tumor 1 -chr11 32435774 32435795 misc_structure: G-quadruplex 0 + 32435774 32435795 0,0,0 sequence_secondary_structure G-quadruplex; WT21; detected by circular dichroism and electrophoretic mobility shift assay; disrupting this structure with TMPyP4 results in lowered promoter activity 107982234|GeneID:107982234,51352|GeneID:51352 26815508|PMID:26815508 EXISTENCE:gel electrophoresis evidence [ECO:0000337][PMID:26815508] G-quadruplex; WT21; detected by circular dichroism and electrophoretic mobility shift assay; disrupting this structure with TMPyP4 results in lowered promoter activity -chr11 32435918 32435935 protein_bind: Sp1 transcription factor 0 + 32435918 32435935 192,0,0 protein_binding_site P site 107982234|GeneID:107982234,51352|GeneID:51352 9336463|PMID:9336463 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9336463] P site | Sp1 transcription factor -chr11 32435918 32435935 protein_bind: paired box 8 0 + 32435918 32435935 192,0,0 protein_binding_site P site 107982234|GeneID:107982234,51352|GeneID:51352 8861958|PMID:8861958 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8861958] P site | paired box 8 -chr11 32435918 32435956 transcriptional_cis_regulatory_region 0 + 32435918 32435956 0,128,128 region 38 nt human/mouse conserved region 107982234|GeneID:107982234,51352|GeneID:51352 8861958|PMID:8861958 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8861958] mediates positive regulation of transcription by Pax8 38 nt human/mouse conserved region | mediates positive regulation of transcription by Pax8 -chr11 32435936 32435957 protein_bind: Sp1 transcription factor 0 + 32435936 32435957 192,0,0 protein_binding_site D site 107982234|GeneID:107982234,51352|GeneID:51352 9336463|PMID:9336463 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9336463] D site | Sp1 transcription factor -chr11 32435936 32435957 protein_bind: paired box 8 0 + 32435936 32435957 192,0,0 protein_binding_site D site 107982234|GeneID:107982234,51352|GeneID:51352 8861958|PMID:8861958 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8861958] D site | paired box 8 -chr11 32435940 32436067 transcriptional_cis_regulatory_region 0 + 32435940 32436067 0,128,128 region -172 to -299 107982234|GeneID:107982234,51352|GeneID:51352 9178767|PMID:9178767 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9178767] mediates positive regulation of transcription by Pax2 -172 to -299 | mediates positive regulation of transcription by Pax2 -chr11 32435970 32436000 protein_bind: paired box 8 0 + 32435970 32436000 192,0,0 protein_binding_site 107982234|GeneID:107982234,51352|GeneID:51352 9388203|PMID:9388203 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9388203] positively regulates promoter activity positively regulates promoter activity | paired box 8 -chr11 32435974 32436000 protein_bind: paired box 2 0 + 32435974 32436000 192,0,0 protein_binding_site distal footprint; -230 to -205; CLBS3 (consensus-like binding site 3) 107982234|GeneID:107982234,51352|GeneID:51352 9178767|PMID:9178767 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9178767] positively regulates promoter activity distal footprint; -230 to -205; CLBS3 (consensus-like binding site 3) | positively regulates promoter activity | paired box 2 -chr11 32436159 32436179 transcriptional_cis_regulatory_region 0 + 32436159 32436179 0,128,128 region aligns to WT1-AS transcript 107982234|GeneID:107982234,51352|GeneID:51352 26462627|PMID:26462627 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26462627] mediates downregulation by WT1-AS transcript aligns to WT1-AS transcript | mediates downregulation by WT1-AS transcript -chr11 32436381 32436411 protein_bind: ETS variant 4 0 + 32436381 32436411 192,0,0 protein_binding_site Pea3-2 probe; contains P3-2 and P3-Py sites 107982234|GeneID:107982234,51352|GeneID:51352 14988020|PMID:14988020 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14988020] positive regulation of WT1 promoter Pea3-2 probe; contains P3-2 and P3-Py sites | positive regulation of WT1 promoter | ETS variant 4 -chr11 32436637 32436974 promoter 0 + 32436637 32436974 0,128,128 promoter XhoI/HindIII fragment for -200 to +130 WT1-AS promoter 107982234|GeneID:107982234,51352|GeneID:51352 8414514|PMID:8414514 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8414514] XhoI/HindIII fragment for -200 to +130 WT1-AS promoter -chr11 32436787 32437188 DNase_I_hypersensitive_site 0 + 32436787 32437188 0,128,128 region hypersensitive site VII; the nucleotide coordinates are approximate for this feature 107982234|GeneID:107982234,51352|GeneID:51352 9407061|PMID:9407061 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9407061] hypersensitive site VII; the nucleotide coordinates are approximate for this feature -chr11 32436842 32436848 TATA_box 0 + 32436842 32436848 0,128,128 TATA_box 107982234|GeneID:107982234,51352|GeneID:51352 8414514|PMID:8414514 COORDINATES:motif similarity evidence [ECO:0000028][PMID:8414514] TATA_box -chr11 32437275 32437423 enhancer 0 + 32437275 32437423 0,128,128 enhancer 148 nt fragment 107982234|GeneID:107982234,51352|GeneID:51352 7629096|PMID:7629096 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7629096] 148 nt fragment -chr11 33942738 33946310 enhancer 0 + 33942738 33946310 0,128,128 enhancer VISTA enhancer hs1858 110121452|GeneID:110121452 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/7] | liver[4/7] VISTA enhancer hs1858 | enhancer in: heart[4/7] | liver[4/7] -chr11 44268376 44272214 enhancer 0 + 44268376 44272214 0,128,128 enhancer VISTA enhancer hs2090 110121482|GeneID:110121482 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/4] | trigeminal V (ganglion, cranial)[3/4] VISTA enhancer hs2090 | enhancer in: eye[3/4] | trigeminal V (ganglion, cranial)[3/4] -chr11 65471293 65471839 enhancer 0 + 65471293 65471839 0,128,128 enhancer amplified fragment containing the chr11:65238917-65239096 (GRCh37) CAGE region 108281161|GeneID:108281161 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr11:65238917-65239096 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr11 65471445 65471625 CAGE_cluster 0 + 65471445 65471625 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281161|GeneID:108281161 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 65477166 65477832 CAGE_cluster 0 + 65477166 65477832 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251793|GeneID:108251793 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 65477279 65477875 enhancer 0 + 65477279 65477875 0,128,128 enhancer amplified fragment containing most of the chr11:65244638-65245303 (GRCh37) CAGE region 108251793|GeneID:108251793 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr11:65244638-65245303 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr11 65481493 65482088 enhancer 0 + 65481493 65482088 0,128,128 enhancer amplified fragment containing the chr11:65248969-65249218 (GRCh37) CAGE region 108281135|GeneID:108281135 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HepG2 cells amplified fragment containing the chr11:65248969-65249218 (GRCh37) CAGE region | low expression transcribed enhancer in HepG2 cells -chr11 65481497 65481747 CAGE_cluster 0 + 65481497 65481747 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281135|GeneID:108281135 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 65487232 65490923 enhancer 0 + 65487232 65490923 0,128,128 enhancer VISTA enhancer hs1759 110121442|GeneID:110121442 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/13] | eye[9/13] | heart[8/13] VISTA enhancer hs1759 | enhancer in: forebrain[8/13] | eye[9/13] | heart[8/13] -chr11 66744819 66744845 tandem 0 + 66744819 66744845 0,0,192 repeat_region 109286555|GeneID:109286555,79703|GeneID:79703 repeat_region -chr11 66744821 66744845 repeat_instability_region 0 + 66744821 66744845 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with fragility at FRA11A 109286555|GeneID:109286555,79703|GeneID:79703 18160775|PMID:18160775 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:18160775] repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with fragility at FRA11A -chr11 69286729 69288911 enhancer 0 + 69286729 69288911 0,128,128 enhancer VISTA enhancer hs2073 110121479|GeneID:110121479 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[6/5] VISTA enhancer hs2073 | enhancer in: other[6/5] -chr11 69493416 69497766 enhancer 0 + 69493416 69497766 0,128,128 enhancer VISTA enhancer hs1920 110121462|GeneID:110121462 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[9/10] VISTA enhancer hs1920 | enhancer in: heart[9/10] -chr11 69704094 69706292 promoter 0 + 69704094 69706292 0,128,128 promoter -1954 to +244 promoter fragment 109245078|GeneID:109245078 17696253|PMID:17696253 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17696253] -1954 to +244 promoter fragment -chr11 69704106 69704127 protein_bind: activating transcription factor 4 0 + 69704106 69704127 192,0,0 protein_binding_site AARE 109245078|GeneID:109245078 23205607|PMID:23205607 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23205607] AARE | activating transcription factor 4 -chr11 69704203 69704243 protein_bind: nuclear receptor subfamily 1 group H member 4; retinoid X receptor 0 + 69704203 69704243 192,0,0 protein_binding_site FXR site P4 109245078|GeneID:109245078 22561792|PMID:22561792 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22561792] positive regulation of transcription FXR site P4 | positive regulation of transcription | nuclear receptor subfamily 1 group H member 4; retinoid X receptor -chr11 69705430 69705793 enhancer 0 + 69705430 69705793 0,128,128 enhancer RC13 109245078|GeneID:109245078 16930954|PMID:16930954 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16930954] enhancer in hindbrain, spinal cord RC13 | enhancer in hindbrain, spinal cord -chr11 69705718 69705774 protein_bind: nuclear receptor subfamily 1 group H member 4; retinoid X receptor 0 + 69705718 69705774 192,0,0 protein_binding_site FXR site P2 109245078|GeneID:109245078 22561792|PMID:22561792 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22561792] positive regulation of transcription FXR site P2 | positive regulation of transcription | nuclear receptor subfamily 1 group H member 4; retinoid X receptor -chr11 69706158 69706209 protein_bind: nuclear receptor subfamily 1 group H member 4; retinoid X receptor 0 + 69706158 69706209 192,0,0 protein_binding_site FXR site P1 109245078|GeneID:109245078 22561792|PMID:22561792 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22561792] positive regulation of transcription FXR site P1 | positive regulation of transcription | nuclear receptor subfamily 1 group H member 4; retinoid X receptor -chr11 69720970 69721720 enhancer 0 + 69720970 69721720 0,128,128 enhancer RC15 109245079|GeneID:109245079 16930954|PMID:16930954 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16930954] enhancer in posterior midbrain/rhombomere 1, pharyngeal epithelia RC15 | enhancer in posterior midbrain/rhombomere 1, pharyngeal epithelia -chr11 69771453 69772054 DNase_I_hypersensitive_site 0 + 69771453 69772054 0,128,128 region DH site A; the nucleotide coordinates are approximate for this feature 109117331|GeneID:109117331 1836454|PMID:1836454 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1836454] DH site A; the nucleotide coordinates are approximate for this feature -chr11 69771453 69772169 enhancer 0 + 69771453 69772169 0,128,128 enhancer NdeI/SalI fragment; 0.7NdS 109117331|GeneID:109117331 2188089|PMID:2188089 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2188089] NdeI/SalI fragment; 0.7NdS -chr11 69771622 69771792 enhancer 0 + 69771622 69771792 0,128,128 enhancer 53 enhancer fragment; 3548 to 3717 109117331|GeneID:109117331 8143853|PMID:8143853 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8143853] 53 enhancer fragment; 3548 to 3717 -chr11 69771676 69771684 nucleotide_motif 0 + 69771676 69771684 192,0,192 sequence_feature nucleotide_motif; octamer 109117331|GeneID:109117331 1723621|PMID:1723621 COORDINATES:motif similarity evidence [ECO:0000028][PMID:1723621] nucleotide_motif; octamer -chr11 69775229 69775625 promoter 0 + 69775229 69775625 0,128,128 promoter R/A promoter fragment 109117330|GeneID:109117330 8143853|PMID:8143853 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8143853] R/A promoter fragment -chr11 69775229 69776342 promoter 0 + 69775229 69776342 0,128,128 promoter PstI/ApaI promoter fragment 109117330|GeneID:109117330 2188089|PMID:2188089 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2188089] PstI/ApaI promoter fragment -chr11 69775464 69775488 protein_bind: nuclear transcription factor Y 0 + 69775464 69775488 192,0,0 protein_binding_site Y probe 109117330|GeneID:109117330 7929190|PMID:7929190 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7929190] positive regulation of promoter activity Y probe | positive regulation of promoter activity | nuclear transcription factor Y -chr11 69817539 69819040 DNase_I_hypersensitive_site 0 + 69817539 69819040 0,128,128 region HS6; the nucleotide coordinates are approximate for this feature 109115964|GeneID:109115964 10749884|PMID:10749884 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10749884] HS6; the nucleotide coordinates are approximate for this feature -chr11 69819030 69819868 promoter 0 + 69819030 69819868 0,128,128 promoter BamHI fragment; BB 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10749884] BamHI fragment; BB -chr11 69819197 69820198 DNase_I_hypersensitive_site 0 + 69819197 69820198 0,128,128 region HS4-HS5; the nucleotide coordinates are approximate for this feature 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10749884] HS4-HS5; the nucleotide coordinates are approximate for this feature -chr11 69819278 69819425 promoter 0 + 69819278 69819425 0,128,128 promoter AvaII/NaeI fragment; E0 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10749884] AvaII/NaeI fragment; E0 -chr11 69821131 69821932 DNase_I_hypersensitive_site 0 + 69821131 69821932 0,128,128 region HS3; the nucleotide coordinates are approximate for this feature 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10749884] HS3; the nucleotide coordinates are approximate for this feature -chr11 69822525 69823526 DNase_I_hypersensitive_site 0 + 69822525 69823526 0,128,128 region HS2; the nucleotide coordinates are approximate for this feature 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10749884] HS2; the nucleotide coordinates are approximate for this feature -chr11 69824903 69825504 DNase_I_hypersensitive_site 0 + 69824903 69825504 0,128,128 region HS1; the nucleotide coordinates are approximate for this feature 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10749884] HS1; the nucleotide coordinates are approximate for this feature -chr11 69825137 69825579 promoter 0 + 69825137 69825579 0,128,128 promoter NcoI/XhoI fragment; NcX 109115964|GeneID:109115964,107984368|GeneID:107984368 10749884|PMID:10749884 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10749884] drives expression of reporter gene; orientation dependent activity NcoI/XhoI fragment; NcX | drives expression of reporter gene; orientation dependent activity -chr11 74754749 74755329 enhancer 0 + 74754749 74755329 0,128,128 enhancer amplified fragment containing the chr11:74465903-74466299 (GRCh37) CAGE region 108281147|GeneID:108281147,254225|GeneID:254225 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr11:74465903-74466299 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr11 74754857 74755254 CAGE_cluster 0 + 74754857 74755254 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281147|GeneID:108281147,254225|GeneID:254225 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 75553020 75555707 enhancer 0 + 75553020 75555707 0,128,128 enhancer VISTA enhancer hs1748 110121439|GeneID:110121439 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/4] VISTA enhancer hs1748 | enhancer in: heart[3/4] -chr11 76046992 76049575 enhancer 0 + 76046992 76049575 0,128,128 enhancer VISTA enhancer hs1435 110121365|GeneID:110121365,7405|GeneID:7405 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[11/11] | nose[9/11] VISTA enhancer hs1435 | enhancer in: limb[11/11] | nose[9/11] -chr11 83566808 83567401 enhancer 0 + 83566808 83567401 0,128,128 enhancer amplified fragment containing the chr11:83278002-83278167 (GRCh37) CAGE region 108281118|GeneID:108281118,107984425|GeneID:107984425 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr11:83278002-83278167 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr11 83566958 83567124 CAGE_cluster 0 + 83566958 83567124 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281118|GeneID:108281118,107984425|GeneID:107984425 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 89167184 89169245 enhancer 0 + 89167184 89169245 0,128,128 enhancer 2061 bp h5'URS fragment 107080646|GeneID:107080646 14629727|PMID:14629727 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14629727] enhancer in melanocytes 2061 bp h5'URS fragment | enhancer in melanocytes -chr11 89168485 89168885 DNase_I_hypersensitive_site 0 + 89168485 89168885 0,128,128 region melanocyte-specific; the nucleotide coordinates are approximate for this feature 107080646|GeneID:107080646 14629726|PMID:14629726 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:14629726] melanocyte-specific; the nucleotide coordinates are approximate for this feature -chr11 89168498 89168525 conserved_region 0 + 89168498 89168525 192,0,192 sequence_feature conserved region; Box A region, which is necessary for enhancer activity in the mouse ortholog 107080646|GeneID:107080646 14629727|PMID:14629727 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:14629727] conserved region; Box A region, which is necessary for enhancer activity in the mouse ortholog -chr11 89168525 89168567 conserved_region 0 + 89168525 89168567 192,0,192 sequence_feature conserved region; Box B region, which is necessary for enhancer activity in the mouse ortholog 107080646|GeneID:107080646 14629727|PMID:14629727 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:14629727] conserved region; Box B region, which is necessary for enhancer activity in the mouse ortholog -chr11 89168550 89168890 transcriptional_cis_regulatory_region 0 + 89168550 89168890 0,128,128 region 340 bp MfeI enhancer region homologous to the mouse LCR 107080646|GeneID:107080646 14629726|PMID:14629726 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14629726] necessary but not sufficient for enhancer activity 340 bp MfeI enhancer region homologous to the mouse LCR | necessary but not sufficient for enhancer activity -chr11 108673358 108681778 mitotic 0 + 108673358 108681778 160,82,45 recombination_feature NUP98-DDX10 recombination region recombines with the NUP98 intron 12 (DDX10) recombination sub-region of the nucleoporin 98kDa recombination region 106865368|GeneID:106865368,1662|GeneID:1662 9166830|PMID:9166830 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:9166830] NUP98-DDX10 recombination region recombines with the NUP98 intron 12 (DDX10) recombination sub-region of the nucleoporin 98kDa recombination region -chr11 110130169 110132509 enhancer 0 + 110130169 110132509 0,128,128 enhancer VISTA enhancer hs1311 110121342|GeneID:110121342,85463|GeneID:85463 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[7/7] | forebrain[7/7] VISTA enhancer hs1311 | enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[7/7] | forebrain[7/7] -chr11 116651164 116651910 enhancer 0 + 116651164 116651910 0,128,128 enhancer VISTA enhancer hs1632 110121415|GeneID:110121415,101929011|GeneID:101929011 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[11/12] VISTA enhancer hs1632 | enhancer in: midbrain (mesencephalon)[11/12] -chr11 116791045 116792831 enhancer_blocking_element 0 + 116791045 116792831 0,128,128 insulator candidate insulator 11-1-2; CTCF association and DNase I hypersensitivity in multiple cell types 108491825|GeneID:108491825 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 11-1-2; CTCF association and DNase I hypersensitivity in multiple cell types | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr11 119206289 119206322 repeat_instability_region 0 + 119206289 119206322 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with fragility at FRA11B 109280160|GeneID:109280160,867|GeneID:867 7603564|PMID:7603564 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:7603564] repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with fragility at FRA11B -chr11 119206289 119206323 tandem 0 + 119206289 119206323 0,0,192 repeat_region 109280160|GeneID:109280160,867|GeneID:867 repeat_region -chr11 119889020 119892949 enhancer 0 + 119889020 119892949 0,128,128 enhancer VISTA enhancer hs1915 110121460|GeneID:110121460 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/9] | heart[4/9] VISTA enhancer hs1915 | enhancer in: midbrain (mesencephalon)[6/9] | heart[4/9] -chr11 121929062 121930463 enhancer 0 + 121929062 121930463 0,128,128 enhancer VISTA enhancer hs872 110120944|GeneID:110120944 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[7/8] | forebrain[6/8] | eye[7/8] VISTA enhancer hs872 | enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[7/8] | forebrain[6/8] | eye[7/8] -chr11 126057159 126060423 enhancer 0 + 126057159 126060423 0,128,128 enhancer VISTA enhancer hs1641 110121418|GeneID:110121418 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] | other[7/11] VISTA enhancer hs1641 | enhancer in: hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] | other[7/11] -chr11 128324223 128325358 enhancer 0 + 128324223 128325358 0,128,128 enhancer amplified fragment containing the chr11:128194119-128195252 (GRCh37) CAGE-defined region 108353823|GeneID:108353823 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in T cells amplified fragment containing the chr11:128194119-128195252 (GRCh37) CAGE-defined region | transcribed enhancer in T cells -chr11 129861727 129862287 enhancer 0 + 129861727 129862287 0,128,128 enhancer amplified fragment containing the chr11:129731747-129732130 (GRCh37) CAGE region 108281156|GeneID:108281156 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr11:129731747-129732130 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr11 129861851 129862235 CAGE_cluster 0 + 129861851 129862235 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281156|GeneID:108281156 24670763|PMID:24670763 DESCRIPTION:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr11 130564386 130564827 retrotransposon:HERVH-int 0 + 130564386 130564827 0,0,192 mobile_genetic_element direction; reverse 108165612|GeneID:108165612 direction; reverse -chr11 130564572 130564585 nucleotide_motif 0 + 130564572 130564585 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108165612|GeneID:108165612 19165926|PMID:19165926,25246103|PMID:25246103 EXISTENCE:motif similarity evidence [ECO:0000028][PMID:25246103, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr11 130564825 130564834 non_allelic_homologous 0 + 130564825 130564834 160,82,45 recombination_feature patient 9 11q24.3 proximal NAHR recombination breakpoint sub-region, recombines with the patient 9 11q24.3 distal NAHR recombination breakpoint sub-region within the 11q24.3 distal HERV-mediated recombination region, resulting in a deletion 108165612|GeneID:108165612 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 9 11q24.3 proximal NAHR recombination breakpoint sub-region, recombines with the patient 9 11q24.3 distal NAHR recombination breakpoint sub-region within the 11q24.3 distal HERV-mediated recombination region, resulting in a deletion -chr11 130564827 130565206 retrotransposon:HERVH-int 0 + 130564827 130565206 0,0,192 mobile_genetic_element direction; reverse 108165612|GeneID:108165612 direction; reverse -chr11 130564898 130564950 non_allelic_homologous 0 + 130564898 130564950 160,82,45 recombination_feature patient 8 11q24.3 proximal NAHR recombination breakpoint sub-region, recombines with the patient 8 11q24.3 distal NAHR recombination breakpoint sub-region within the 11q24.3 distal HERV-mediated recombination region, resulting in a deletion 108165612|GeneID:108165612 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 8 11q24.3 proximal NAHR recombination breakpoint sub-region, recombines with the patient 8 11q24.3 distal NAHR recombination breakpoint sub-region within the 11q24.3 distal HERV-mediated recombination region, resulting in a deletion -chr11 130565007 130565065 non_allelic_homologous 0 + 130565007 130565065 160,82,45 recombination_feature patient 10 11q24.3 proximal NAHR recombination breakpoint sub-region, recombines with the patient 10 11q24.3 distal NAHR recombination breakpoint sub-region within the 11q24.3 distal HERV-mediated recombination region, resulting in a duplication 108165612|GeneID:108165612 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 10 11q24.3 proximal NAHR recombination breakpoint sub-region, recombines with the patient 10 11q24.3 distal NAHR recombination breakpoint sub-region within the 11q24.3 distal HERV-mediated recombination region, resulting in a duplication -chr11 130565008 130565021 nucleotide_motif 0 + 130565008 130565021 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108165612|GeneID:108165612 19165926|PMID:19165926,25246103|PMID:25246103 COORDINATES:motif similarity evidence [ECO:0000028][PMID:25246103, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr11 130753497 130753948 retrotransposon:HERVH-int 0 + 130753497 130753948 0,0,192 mobile_genetic_element direction; reverse 108165613|GeneID:108165613 direction; reverse -chr11 130753946 130753955 non_allelic_homologous 0 + 130753946 130753955 160,82,45 recombination_feature patient 9 11q24.3 distal NAHR recombination breakpoint sub-region, recombines with the patient 9 11q24.3 proximal NAHR recombination breakpoint sub-region within the 11q24.3 proximal HERV-mediated recombination region, resulting in a deletion 108165613|GeneID:108165613 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 9 11q24.3 distal NAHR recombination breakpoint sub-region, recombines with the patient 9 11q24.3 proximal NAHR recombination breakpoint sub-region within the 11q24.3 proximal HERV-mediated recombination region, resulting in a deletion -chr11 130753948 130754328 retrotransposon:HERVH-int 0 + 130753948 130754328 0,0,192 mobile_genetic_element direction; reverse 108165613|GeneID:108165613 direction; reverse -chr11 130754019 130754072 non_allelic_homologous 0 + 130754019 130754072 160,82,45 recombination_feature patient 8 11q24.3 distal NAHR recombination breakpoint sub-region, recombines with the patient 8 11q24.3 proximal NAHR recombination breakpoint sub-region within the 11q24.3 proximal HERV-mediated recombination region, resulting in a deletion 108165613|GeneID:108165613 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 8 11q24.3 distal NAHR recombination breakpoint sub-region, recombines with the patient 8 11q24.3 proximal NAHR recombination breakpoint sub-region within the 11q24.3 proximal HERV-mediated recombination region, resulting in a deletion -chr11 130754130 130754143 nucleotide_motif 0 + 130754130 130754143 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108165613|GeneID:108165613 19165926|PMID:19165926,25246103|PMID:25246103 COORDINATES:motif similarity evidence [ECO:0000028][PMID:25246103, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr11 130754130 130754187 non_allelic_homologous 0 + 130754130 130754187 160,82,45 recombination_feature patient 10 11q24.3 distal NAHR recombination breakpoint sub-region, recombines with the patient 10 11q24.3 proximal NAHR recombination breakpoint sub-region within the 11q24.3 proximal HERV-mediated recombination region, resulting in a duplication 108165613|GeneID:108165613 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 10 11q24.3 distal NAHR recombination breakpoint sub-region, recombines with the patient 10 11q24.3 proximal NAHR recombination breakpoint sub-region within the 11q24.3 proximal HERV-mediated recombination region, resulting in a duplication -chr11 131998054 131998483 enhancer 0 + 131998054 131998483 0,128,128 enhancer VISTA enhancer hs335 110120853|GeneID:110120853,50863|GeneID:50863 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/7] VISTA enhancer hs335 | enhancer in: limb[5/7] -chr12 4044061 4047212 meiotic 0 + 4044061 4047212 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107832852|GeneID:107832852 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr12 4045495 4045508 nucleotide_motif 0 + 4045495 4045508 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107832852|GeneID:107832852 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr12 4046053 4047453 meiotic 0 + 4046053 4047453 160,82,45 recombination_feature crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to the L6 and L8 alleles of PRDM9 107832852|GeneID:107832852 21750151|PMID:21750151 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:21750151] crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to the L6 and L8 alleles of PRDM9 -chr12 4046659 4046675 nucleotide_motif 0 + 4046659 4046675 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot as mapped by sperm typing 107832852|GeneID:107832852 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot as mapped by sperm typing -chr12 5116426 5122428 non-LTR retrotransposon:L1PA2 0 + 5116426 5122428 0,0,192 mobile_genetic_element direction; reverse 108178986|GeneID:108178986 direction; reverse -chr12 5120906 5121090 non_allelic_homologous 0 + 5120906 5121090 160,82,45 recombination_feature deletion patients 1, 4 12p13 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1, 4 12p13 proximal NAHR recombination breakpoint sub-region within the 12p13 proximal LINE-mediated recombination region, resulting in a deletion 108178986|GeneID:108178986 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1, 4 12p13 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1, 4 12p13 proximal NAHR recombination breakpoint sub-region within the 12p13 proximal LINE-mediated recombination region, resulting in a deletion -chr12 5121691 5121855 non_allelic_homologous 0 + 5121691 5121855 160,82,45 recombination_feature duplication patient 2 12p13 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 12p13 proximal NAHR recombination breakpoint sub-region within the 12p13 proximal LINE-mediated recombination region, resulting in a duplication 108178986|GeneID:108178986 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2 12p13 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 12p13 proximal NAHR recombination breakpoint sub-region within the 12p13 proximal LINE-mediated recombination region, resulting in a duplication -chr12 5284940 5290958 non-LTR retrotransposon:L1PA3 0 + 5284940 5290958 0,0,192 mobile_genetic_element direction; reverse 108178987|GeneID:108178987,105369617|GeneID:105369617 direction; reverse -chr12 5289433 5289617 non_allelic_homologous 0 + 5289433 5289617 160,82,45 recombination_feature deletion patients 1, 4 12p13 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1, 4 12p13 distal NAHR recombination breakpoint sub-region within the 12p13 distal LINE-mediated recombination region, resulting in a deletion 108178987|GeneID:108178987,105369617|GeneID:105369617 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1, 4 12p13 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1, 4 12p13 distal NAHR recombination breakpoint sub-region within the 12p13 distal LINE-mediated recombination region, resulting in a deletion -chr12 5290218 5290382 non_allelic_homologous 0 + 5290218 5290382 160,82,45 recombination_feature duplication patient 2 12p13 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 12p13 distal NAHR recombination breakpoint sub-region within the 12p13 distal LINE-mediated recombination region, resulting in a duplication 108178987|GeneID:108178987,105369617|GeneID:105369617 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2 12p13 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 12p13 distal NAHR recombination breakpoint sub-region within the 12p13 distal LINE-mediated recombination region, resulting in a duplication -chr12 5638844 5641719 meiotic 0 + 5638844 5641719 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107436002|GeneID:107436002 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr12 5639081 5640196 meiotic 0 + 5639081 5640196 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107436002|GeneID:107436002 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr12 5639115 5641797 meiotic 0 + 5639115 5641797 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107436002|GeneID:107436002 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr12 5639156 5639172 nucleotide_motif 0 + 5639156 5639172 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107436002|GeneID:107436002 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr12 5639603 5641003 meiotic 0 + 5639603 5641003 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A >> PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles. 107436002|GeneID:107436002 18650392|PMID:18650392,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392, PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A >> PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles. -chr12 5640351 5640364 nucleotide_motif 0 + 5640351 5640364 192,0,192 sequence_feature nucleotide motif; sequence similarity to the predicted 13-mer linkage disequilibrium (LD) hotspot motif CCNCCNTNNCCNC 107436002|GeneID:107436002 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; sequence similarity to the predicted 13-mer linkage disequilibrium (LD) hotspot motif CCNCCNTNNCCNC -chr12 5641604 5641620 nucleotide_motif 0 + 5641604 5641620 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107436002|GeneID:107436002 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr12 5789976 5791575 meiotic 0 + 5789976 5791575 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107832854|GeneID:107832854 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr12 5790823 5792123 meiotic 0 + 5790823 5792123 160,82,45 recombination_feature crossovers mapped in sperm cells of males of African ancestry, specific to PRDM9 C-type alleles 107832854|GeneID:107832854 21750151|PMID:21750151 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:21750151] crossovers mapped in sperm cells of males of African ancestry, specific to PRDM9 C-type alleles -chr12 5790918 5792122 meiotic 0 + 5790918 5792122 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype 107832854|GeneID:107832854 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype -chr12 5791391 5791407 nucleotide_motif 0 + 5791391 5791407 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found near the center of the hotspot, as determined by sperm typing 107832854|GeneID:107832854 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found near the center of the hotspot, as determined by sperm typing -chr12 6936716 6936773 repeat_instability_region 0 + 6936716 6936773 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with dentatorubral-pallidoluysian atrophy 109461484|GeneID:109461484,1822|GeneID:1822 7951323|PMID:7951323,8136826|PMID:8136826 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:8136826, PMID:7951323] repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with dentatorubral-pallidoluysian atrophy -chr12 6936716 6936775 tandem 0 + 6936716 6936775 0,0,192 repeat_region 109461484|GeneID:109461484,1822|GeneID:1822 repeat_region -chr12 6961579 6962098 enhancer 0 + 6961579 6962098 0,128,128 enhancer 106799839|GeneID:106799839 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr12 7785751 7785914 conserved_region 0 + 7785751 7785914 192,0,192 sequence_feature conserved region; CR4 108942766|GeneID:108942766 19522013|PMID:19522013 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:19522013] conserved region; CR4 -chr12 7786970 7787238 conserved_region 0 + 7786970 7787238 192,0,192 sequence_feature conserved region; CR3 108942766|GeneID:108942766 19522013|PMID:19522013 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:19522013] conserved region; CR3 -chr12 7787313 7787914 DNase_I_hypersensitive_site 0 + 7787313 7787914 0,128,128 region -1.8 kb (P2) DH site; the nucleotide coordinates are approximate for this feature 108942766|GeneID:108942766 25077040|PMID:25077040 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:25077040] -1.8 kb (P2) DH site; the nucleotide coordinates are approximate for this feature -chr12 7787541 7788386 conserved_region 0 + 7787541 7788386 192,0,192 sequence_feature conserved region; CR2 108942766|GeneID:108942766 19522013|PMID:19522013 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:19522013] conserved region; CR2 -chr12 7787610 7787662 promoter 0 + 7787610 7787662 0,128,128 promoter -1788 to -1737; P2 promoter 108942766|GeneID:108942766 25077040|PMID:25077040 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25077040] bi-directional promoter -1788 to -1737; P2 promoter | bi-directional promoter -chr12 7787808 7789398 promoter 0 + 7787808 7789398 0,128,128 promoter -1286/-1 promoter fragment based on primers from PMID:21689639 108942766|GeneID:108942766 21689639|PMID:21689639 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21689639] -1286/-1 promoter fragment based on primers from PMID:21689639 -chr12 7787908 7787958 protein_bind: PBX homeobox 1 0 + 7787908 7787958 192,0,0 protein_binding_site PBX1 site 1; probe 11 108942766|GeneID:108942766 19522013|PMID:19522013 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19522013] positive regulation of promoter activity PBX1 site 1; probe 11 | positive regulation of promoter activity | PBX homeobox 1 -chr12 7788378 7788395 transcriptional_cis_regulatory_region 0 + 7788378 7788395 0,128,128 region Lef #2 site; -1020/-1004 108942766|GeneID:108942766 21689639|PMID:21689639 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:21689639] mediates positive regulation by Wnt/beta catenin Lef #2 site; -1020/-1004 | mediates positive regulation by Wnt/beta catenin -chr12 7789000 7789601 DNase_I_hypersensitive_site 0 + 7789000 7789601 0,128,128 region promoter (P1) DH site; the nucleotide coordinates are approximate for this feature 108942766|GeneID:108942766 25077040|PMID:25077040 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:25077040] promoter (P1) DH site; the nucleotide coordinates are approximate for this feature -chr12 7789017 7789641 conserved_region 0 + 7789017 7789641 192,0,192 sequence_feature conserved region; CR1 108942766|GeneID:108942766 19522013|PMID:19522013 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:19522013] conserved region; CR1 -chr12 7789018 7789422 promoter 0 + 7789018 7789422 0,128,128 promoter -380 to +24 promoter 108942766|GeneID:108942766 15743839|PMID:15743839 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15743839] -380 to +24 promoter -chr12 7789140 7789432 promoter 0 + 7789140 7789432 0,128,128 promoter -258 to +34 P1 promoter 108942766|GeneID:108942766 25077040|PMID:25077040 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25077040] -258 to +34 P1 promoter -chr12 7789250 7789330 protein_bind: SMAD family members 2 and 3 0 + 7789250 7789330 192,0,0 protein_binding_site probe containing 4 SBE (SMAD binding elements) 108942766|GeneID:108942766 18682241|PMID:18682241 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18682241] positive regulation of promoter activity probe containing 4 SBE (SMAD binding elements) | positive regulation of promoter activity | SMAD family members 2 and 3 -chr12 7789281 7789295 transcriptional_cis_regulatory_region 0 + 7789281 7789295 0,128,128 region Oct/Sox box 108942766|GeneID:108942766 25271810|PMID:25271810 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:25271810] important for promoter activity; mediates response to hypoxia Oct/Sox box | important for promoter activity; mediates response to hypoxia -chr12 7789348 7789398 protein_bind: Kruppel like factor 4 0 + 7789348 7789398 192,0,0 protein_binding_site KLF4 sites 1 and 2; probe 4 108942766|GeneID:108942766 19522013|PMID:19522013 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19522013] positive regulation of promoter activity KLF4 sites 1 and 2; probe 4 | positive regulation of promoter activity | Kruppel like factor 4 -chr12 7789448 7789498 protein_bind: PBX homeobox 1 0 + 7789448 7789498 192,0,0 protein_binding_site PBX1 sites 2 and 3; probe 6 108942766|GeneID:108942766,79923|GeneID:79923 19522013|PMID:19522013 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19522013] positive regulation of promoter activity PBX1 sites 2 and 3; probe 6 | positive regulation of promoter activity | PBX homeobox 1 -chr12 12881317 12881949 enhancer 0 + 12881317 12881949 0,128,128 enhancer amplified fragment containing the chr12:13034551-13034650 (GRCh37) CAGE region 108281141|GeneID:108281141 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr12:13034551-13034650 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr12 12881616 12881716 CAGE_cluster 0 + 12881616 12881716 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281141|GeneID:108281141 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr12 16017655 16018890 enhancer 0 + 16017655 16018890 0,128,128 enhancer VISTA enhancer hs798 110120934|GeneID:110120934,51071|GeneID:51071 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/9] | forebrain[9/9] VISTA enhancer hs798 | enhancer in: neural tube[8/9] | forebrain[9/9] -chr12 16457110 16459002 enhancer 0 + 16457110 16459002 0,128,128 enhancer VISTA enhancer hs607 110120907|GeneID:110120907,107984494|GeneID:107984494 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] | hindbrain (rhombencephalon)[4/7] VISTA enhancer hs607 | enhancer in: neural tube[4/7] | hindbrain (rhombencephalon)[4/7] -chr12 16562380 16563426 enhancer 0 + 16562380 16563426 0,128,128 enhancer VISTA enhancer hs336 110120854|GeneID:110120854 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] VISTA enhancer hs336 | enhancer in: neural tube[4/7] -chr12 16787773 16789388 enhancer 0 + 16787773 16789388 0,128,128 enhancer VISTA enhancer hs661 110120918|GeneID:110120918 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/10] VISTA enhancer hs661 | enhancer in: midbrain (mesencephalon)[8/10] -chr12 17018776 17021842 enhancer 0 + 17018776 17021842 0,128,128 enhancer VISTA enhancer hs1532 110121389|GeneID:110121389 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[11/11] | eye[8/11] VISTA enhancer hs1532 | enhancer in: forebrain[11/11] | eye[8/11] -chr12 17158849 17160825 enhancer 0 + 17158849 17160825 0,128,128 enhancer VISTA enhancer hs993 110120956|GeneID:110120956 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/7] VISTA enhancer hs993 | enhancer in: hindbrain (rhombencephalon)[3/7] -chr12 17504797 17506074 enhancer 0 + 17504797 17506074 0,128,128 enhancer VISTA enhancer hs605 110120906|GeneID:110120906 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/13] VISTA enhancer hs605 | enhancer in: midbrain (mesencephalon)[7/13] -chr12 17671920 17673401 enhancer 0 + 17671920 17673401 0,128,128 enhancer VISTA enhancer hs579 110120899|GeneID:110120899 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[6/7] VISTA enhancer hs579 | enhancer in: ear[6/7] -chr12 17695176 17696413 enhancer 0 + 17695176 17696413 0,128,128 enhancer VISTA enhancer hs980 110120955|GeneID:110120955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] VISTA enhancer hs980 | enhancer in: hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] -chr12 19946560 19947069 enhancer 0 + 19946560 19947069 0,128,128 enhancer amplified fragment containing the chr12:20099675-20099840 (GRCh37) CAGE region 108251798|GeneID:108251798 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr12:20099675-20099840 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr12 19946740 19946906 CAGE_cluster 0 + 19946740 19946906 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251798|GeneID:108251798 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr12 19971244 19971757 enhancer 0 + 19971244 19971757 0,128,128 enhancer amplified fragment containing the chr12:20124309-20124606 (GRCh37) CAGE region 108254668|GeneID:108254668 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr12:20124309-20124606 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr12 19971374 19971672 CAGE_cluster 0 + 19971374 19971672 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254668|GeneID:108254668 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr12 21891136 21892666 enhancer 0 + 21891136 21892666 0,128,128 enhancer VISTA enhancer hs2151 110121489|GeneID:110121489 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/17] | trigeminal V (ganglion, cranial)[5/17] VISTA enhancer hs2151 | enhancer in: dorsal root ganglion[5/17] | trigeminal V (ganglion, cranial)[5/17] -chr12 23058547 23061810 enhancer 0 + 23058547 23061810 0,128,128 enhancer VISTA enhancer hs1603 110121408|GeneID:110121408 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[7/7] | branchial arch[5/7] | nose[7/7] VISTA enhancer hs1603 | enhancer in: limb[7/7] | branchial arch[5/7] | nose[7/7] -chr12 24080949 24082700 enhancer 0 + 24080949 24082700 0,128,128 enhancer VISTA enhancer hs895 110120948|GeneID:110120948 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/8] | limb[5/8] | trigeminal V (ganglion, cranial)[5/8] VISTA enhancer hs895 | enhancer in: hindbrain (rhombencephalon)[5/8] | limb[5/8] | trigeminal V (ganglion, cranial)[5/8] -chr12 27086846 27087563 epigenetically_modified_region 0 + 27086846 27087563 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells 108281176|GeneID:108281176 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells -chr12 27086988 27087505 enhancer 0 + 27086988 27087505 0,128,128 enhancer amplified fragment containing most of the chr12:27239780-27240496 (GRCh37) region with regulatory potential 108281176|GeneID:108281176 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing most of the chr12:27239780-27240496 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr12 50505001 50505053 tandem 0 + 50505001 50505053 0,0,192 repeat_region 109286554|GeneID:109286554,57609|GeneID:57609 repeat_region -chr12 50505003 50505024 repeat_instability_region 0 + 50505003 50505024 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with intellectual disability 109286554|GeneID:109286554,57609|GeneID:57609 17236128|PMID:17236128 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:17236128] repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with intellectual disability -chr12 52948038 52948881 locus_control_region 0 + 52948038 52948881 0,128,128 locus_control_region 5' portion of locus control region 106096416|GeneID:106096416 7692231|PMID:7692231 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:7692231] regulates integration site-independent and copy number-dependent expression; required for tissue-specific expression of KRT18 5' portion of locus control region | regulates integration site-independent and copy number-dependent expression; required for tissue-specific expression of KRT18 -chr12 52948038 52956706 locus_control_region 0 + 52948038 52956706 0,128,128 locus_control_region 8.5 kb fragment; contains enhancers and other regulatory elements for tissue-specific, copy number-dependent, and integration site-independent expression 106096416|GeneID:106096416 7681143|PMID:7681143 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:7681143] 8.5 kb fragment; contains enhancers and other regulatory elements for tissue-specific, copy number-dependent, and integration site-independent expression -chr12 52948351 52949175 DNase_I_hypersensitive_site 0 + 52948351 52949175 0,128,128 region HSS a, b and c; the nucleotide coordinates are approximate for this feature 106096416|GeneID:106096416 7680099|PMID:7680099 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:7680099] HSS a, b and c; the nucleotide coordinates are approximate for this feature -chr12 52948449 52948824 enhancer 0 + 52948449 52948824 0,128,128 enhancer Alu2 element 106096416|GeneID:106096416 7667273|PMID:7667273,10625605|PMID:10625605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7667273] enhancer (PMID:7667273) or enhancer blocker and insulator (PMID:10625605) Alu2 element | enhancer (PMID:7667273) or enhancer blocker and insulator (PMID:10625605) -chr12 52948449 52948824 enhancer_blocking_element 0 + 52948449 52948824 0,128,128 insulator Alu2 element 106096416|GeneID:106096416 7667273|PMID:7667273,10625605|PMID:10625605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10625605] enhancer (PMID:7667273) or enhancer blocker and insulator (PMID:10625605) Alu2 element | enhancer (PMID:7667273) or enhancer blocker and insulator (PMID:10625605) -chr12 52948514 52948789 SINE:AluSC 0 + 52948514 52948789 0,0,192 mobile_genetic_element 106096416|GeneID:106096416 mobile_genetic_element -chr12 52948705 52948716 promoter 0 + 52948705 52948716 0,128,128 promoter RNA polymerase III promoter B box element 106096416|GeneID:106096416 7692231|PMID:7692231,10625605|PMID:10625605 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:7692231, PMID:10625605] required for expression of associated Alu element; activity promotes copy number dependent expression of KRT18 gene RNA polymerase III promoter B box element | required for expression of associated Alu element; activity promotes copy number dependent expression of KRT18 gene -chr12 52948705 52948785 promoter 0 + 52948705 52948785 0,128,128 promoter RNA polymerase III promoter, including A and B boxes 106096416|GeneID:106096416 7692231|PMID:7692231,10625605|PMID:10625605 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:7692231, PMID:10625605] RNA polymerase III promoter, including A and B boxes -chr12 52948718 52948740 protein_bind: retinoic acid receptors 0 + 52948718 52948740 192,0,0 protein_binding_site includes three HREs (hormone response elements); consensus sequence AGGTCA 106096416|GeneID:106096416 7667273|PMID:7667273 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7667273] promotes enhancer activity includes three HREs (hormone response elements); consensus sequence AGGTCA | promotes enhancer activity | retinoic acid receptors -chr12 52948793 52948876 promoter 0 + 52948793 52948876 0,128,128 promoter Lazarus element 106096416|GeneID:106096416 9756890|PMID:9756890 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9756890] cryptic promoter in the absence of the canonical promoter, or a positive regulatory element in the presence of the intron 1 enhancer Lazarus element | cryptic promoter in the absence of the canonical promoter, or a positive regulatory element in the presence of the intron 1 enhancer -chr12 52948793 52948876 transcriptional_cis_regulatory_region 0 + 52948793 52948876 0,128,128 region Lazarus element 106096416|GeneID:106096416 9756890|PMID:9756890 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9756890] positive regulatory element in the presence of the intron 1 enhancer, or a cryptic promoter in the absence of the canonical promoter Lazarus element | positive regulatory element in the presence of the intron 1 enhancer, or a cryptic promoter in the absence of the canonical promoter -chr12 52949051 52949087 protein_bind: Sp1 transcription factor 0 + 52949051 52949087 192,0,0 protein_binding_site 106096416|GeneID:106096416,3875|GeneID:3875 7537848|PMID:7537848 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7537848] stimulates promoter activity stimulates promoter activity | Sp1 transcription factor -chr12 52949085 52949147 promoter 0 + 52949085 52949147 0,128,128 promoter minimal KRT18 promoter 106096416|GeneID:106096416,3875|GeneID:3875 7537848|PMID:7537848 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7537848] minimal KRT18 promoter -chr12 52949589 52950335 DNase_I_hypersensitive_site 0 + 52949589 52950335 0,128,128 region HSS d, e and f; the nucleotide coordinates are approximate for this feature 106096416|GeneID:106096416,3875|GeneID:3875 7680099|PMID:7680099 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:7680099] HSS d, e and f; the nucleotide coordinates are approximate for this feature -chr12 52949634 52950289 enhancer 0 + 52949634 52950289 0,128,128 enhancer 600 bp sequence in intron 1 106096416|GeneID:106096416,3875|GeneID:3875 7526151|PMID:7526151 EXISTENCE:knockout evidence [ECO:0001091][PMID:7526151] 600 bp sequence in intron 1 -chr12 52949777 52949801 silencer 0 + 52949777 52949801 0,128,128 silencer N-gamma negative regulatory element 106096416|GeneID:106096416,3875|GeneID:3875 7526151|PMID:7526151 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7526151] decreases reporter gene expression in F9 embryonal carcinoma cells N-gamma negative regulatory element | decreases reporter gene expression in F9 embryonal carcinoma cells -chr12 52949890 52949990 enhancer 0 + 52949890 52949990 0,128,128 enhancer E100 fragment 106096416|GeneID:106096416,3875|GeneID:3875 9756890|PMID:9756890 EXISTENCE:knockout evidence [ECO:0001091][PMID:9756890] E100 fragment -chr12 52949908 52949955 conserved_region 0 + 52949908 52949955 192,0,192 sequence_feature conserved region 106096416|GeneID:106096416,3875|GeneID:3875 1696235|PMID:1696235 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:1696235] required for enhancer activity conserved region | required for enhancer activity -chr12 52949916 52949926 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 2 0 + 52949916 52949926 192,0,0 protein_binding_site blocked by DNA cytosine methylation 106096416|GeneID:106096416,3875|GeneID:3875 7508123|PMID:7508123,7526151|PMID:7526151 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:7508123, PMID:7526151] promotes enhancer activity blocked by DNA cytosine methylation | promotes enhancer activity | v-ets avian erythroblastosis virus E26 oncogene homolog 2 -chr12 52949934 52949941 protein_bind: jun proto-oncogene 0 + 52949934 52949941 192,0,0 protein_binding_site 106096416|GeneID:106096416,3875|GeneID:3875 7508123|PMID:7508123 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:7508123] promotes enhancer activity promotes enhancer activity | jun proto-oncogene -chr12 52950024 52950043 protein_bind: YY1 transcription factor 0 + 52950024 52950043 192,0,0 protein_binding_site N-alpha negative regulatory element 106096416|GeneID:106096416,3875|GeneID:3875 7526151|PMID:7526151 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7526151] N-alpha negative regulatory element | YY1 transcription factor -chr12 52950024 52950043 silencer 0 + 52950024 52950043 0,128,128 silencer N-alpha negative regulatory element (Nalpha18) 106096416|GeneID:106096416,3875|GeneID:3875 7526151|PMID:7526151 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7526151] decreases reporter gene expression in F9 embryonal carcinoma cells N-alpha negative regulatory element (Nalpha18) | decreases reporter gene expression in F9 embryonal carcinoma cells -chr12 52950146 52950161 silencer 0 + 52950146 52950161 0,128,128 silencer N-beta negative regulatory element (Nbeta15) 106096416|GeneID:106096416,3875|GeneID:3875 7526151|PMID:7526151 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7526151] decreases reporter gene expression in F9 embryonal carcinoma cells N-beta negative regulatory element (Nbeta15) | decreases reporter gene expression in F9 embryonal carcinoma cells -chr12 52951929 52952530 DNase_I_hypersensitive_site 0 + 52951929 52952530 0,128,128 region HSS g; the nucleotide coordinates are approximate for this feature 106096416|GeneID:106096416,3875|GeneID:3875 7680099|PMID:7680099 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:7680099] HSS g; the nucleotide coordinates are approximate for this feature -chr12 52952144 52952325 transcriptional_cis_regulatory_region 0 + 52952144 52952325 0,128,128 region construct 10 fragment for positive regulatory element in exon 6 106096416|GeneID:106096416,3875|GeneID:3875 7680099|PMID:7680099 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:7680099] construct 10 fragment for positive regulatory element in exon 6 -chr12 52952182 52952216 transcriptional_cis_regulatory_region 0 + 52952182 52952216 0,128,128 region 33 bp K19/K18 substitution region 106096416|GeneID:106096416,3875|GeneID:3875 9346889|PMID:9346889 EXISTENCE:knockout evidence [ECO:0001091][PMID:9346889] promotes expression of KRT18 in liver and intestine 33 bp K19/K18 substitution region | promotes expression of KRT18 in liver and intestine -chr12 52952204 52952211 protein_bind: jun proto-oncogene 0 + 52952204 52952211 192,0,0 protein_binding_site 106096416|GeneID:106096416,3875|GeneID:3875 9346889|PMID:9346889 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:9346889] protein_binding_site | jun proto-oncogene -chr12 52953057 52956706 locus_control_region 0 + 52953057 52956706 0,128,128 locus_control_region 3.5 kb portion of locus control region 106096416|GeneID:106096416 7681143|PMID:7681143 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:7681143] required for copy number-dependent, insulated expression in liver 3.5 kb portion of locus control region | required for copy number-dependent, insulated expression in liver -chr12 53743488 53744035 DNase_I_hypersensitive_site 0 + 53743488 53744035 0,128,128 region region containing the chr12.2465 DHS; the nucleotide coordinates are approximate for this feature 108281184|GeneID:108281184 22955617|PMID:22955617 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:22955617] region containing the chr12.2465 DHS; the nucleotide coordinates are approximate for this feature -chr12 53743488 53744035 enhancer 0 + 53743488 53744035 0,128,128 enhancer amplified fragment containing the chr12.2465 DHS 108281184|GeneID:108281184 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr12.2465 DHS | nontranscribed enhancer in HeLa cells -chr12 53973792 53973794 mitotic 0 + 53973792 53973794 160,82,45 recombination_feature NUP98-HOXC11 (exon) recombination sub-region recombines with the NUP98 intron 12 (HOXC11 exon) recombination sub-region of the nucleoporin 98kDa recombination region 107105350|GeneID:107105350,3227|GeneID:3227 12183408|PMID:12183408 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12183408] NUP98-HOXC11 (exon) recombination sub-region recombines with the NUP98 intron 12 (HOXC11 exon) recombination sub-region of the nucleoporin 98kDa recombination region -chr12 53973923 53975180 mitotic 0 + 53973923 53975180 160,82,45 recombination_feature NUP98-HOXC11 (intron) recombination sub-region recombines with the NUP98 intron 12 (HOXC11 intron) recombination sub-region of the nucleoporin 98kDa recombination region 107105350|GeneID:107105350,3227|GeneID:3227 12970787|PMID:12970787 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:12970787] NUP98-HOXC11 (intron) recombination sub-region recombines with the NUP98 intron 12 (HOXC11 intron) recombination sub-region of the nucleoporin 98kDa recombination region -chr12 53978915 53979430 enhancer 0 + 53978915 53979430 0,128,128 enhancer amplified fragment containing the chr12:54372759-54373189 (GRCh37) CAGE region 108228199|GeneID:108228199 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr12:54372759-54373189 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr12 53978974 53979405 CAGE_cluster 0 + 53978974 53979405 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108228199|GeneID:108228199 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr12 54018453 54021661 enhancer 0 + 54018453 54021661 0,128,128 enhancer VISTA enhancer hs2078 110121480|GeneID:110121480,3223|GeneID:3223 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/6] VISTA enhancer hs2078 | enhancer in: heart[4/6] -chr12 54032853 54034005 enhancer 0 + 54032853 54034005 0,128,128 enhancer VISTA enhancer hs1875 110121456|GeneID:110121456,3222|GeneID:3222 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] VISTA enhancer hs1875 | enhancer in: neural tube[4/7] -chr12 56958079 56958328 rep_origin: promotes replication of a plasmid 0 + 56958079 56958328 0,0,0 origin_of_replication promotes replication of a plasmid 107197953|GeneID:107197953 16954389|PMID:16954389 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:16954389] promotes replication of a plasmid -chr12 56958128 56958257 rep_origin: peak of nascent strand synthesis determined by PCR amplification of labelled nascent strands 0 + 56958128 56958257 0,0,0 origin_of_replication peak of nascent strand synthesis determined by PCR amplification of labelled nascent strands 107197953|GeneID:107197953 16954389|PMID:16954389 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:16954389] peak of nascent strand synthesis determined by PCR amplification of labelled nascent strands -chr12 58967848 58970737 enhancer 0 + 58967848 58970737 0,128,128 enhancer VISTA enhancer hs1468 110121374|GeneID:110121374,105369791|GeneID:105369791 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs1468 | enhancer in: limb[3/5] -chr12 59066408 59068586 enhancer 0 + 59066408 59068586 0,128,128 enhancer VISTA enhancer hs1427 110121363|GeneID:110121363,105369791|GeneID:105369791 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[5/9] | limb[5/9] | branchial arch[5/9] VISTA enhancer hs1427 | enhancer in: somite[5/9] | limb[5/9] | branchial arch[5/9] -chr12 63540985 63541052 non_allelic_homologous 0 + 63540985 63541052 160,82,45 recombination_feature sub-region 1 (BP4 from PMID:23555282) recombines with sub-region 1' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 23555282|PMID:23555282 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23555282] sub-region 1 (BP4 from PMID:23555282) recombines with sub-region 1' within the DPY19L2 LCR2 recombination region 1 -chr12 63541174 63541231 non_allelic_homologous 0 + 63541174 63541231 160,82,45 recombination_feature sub-region 2 (BP1 from PMID:23555282) recombines with sub-region 2' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 23555282|PMID:23555282 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23555282] sub-region 2 (BP1 from PMID:23555282) recombines with sub-region 2' within the DPY19L2 LCR2 recombination region 1 -chr12 63541232 63541528 non_allelic_homologous 0 + 63541232 63541528 160,82,45 recombination_feature sub-region 3 (BP2 from PMID:22653751) recombines with sub-region 3' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 3 (BP2 from PMID:22653751) recombines with sub-region 3' within the DPY19L2 LCR2 recombination region 1 -chr12 63541522 63541535 nucleotide_motif 0 + 63541522 63541535 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106007490|GeneID:106007490 19165926|PMID:19165926,23555282|PMID:23555282 EXISTENCE:motif similarity evidence [ECO:0000028][PMID:23555282, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr12 63541529 63541572 non_allelic_homologous 0 + 63541529 63541572 160,82,45 recombination_feature sub-region 4 (BP5 from PMID:22653751) recombines with sub-region 4' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 4 (BP5 from PMID:22653751) recombines with sub-region 4' within the DPY19L2 LCR2 recombination region 1 -chr12 63541573 63541667 non_allelic_homologous 0 + 63541573 63541667 160,82,45 recombination_feature sub-region 5 (BP6 from PMID:22653751) recombines with sub-region 5' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 5 (BP6 from PMID:22653751) recombines with sub-region 5' within the DPY19L2 LCR2 recombination region 1 -chr12 63541588 63541876 SINE:AluSq2 0 + 63541588 63541876 0,0,192 mobile_genetic_element direction; forward 106007490|GeneID:106007490 direction; forward -chr12 63541668 63541698 non_allelic_homologous 0 + 63541668 63541698 160,82,45 recombination_feature sub-region 6 (BP4 from PMID:22653751) recombines with sub-region 6' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 6 (BP4 from PMID:22653751) recombines with sub-region 6' within the DPY19L2 LCR2 recombination region 1 -chr12 63541699 63541806 non_allelic_homologous 0 + 63541699 63541806 160,82,45 recombination_feature sub-region 7 (BP1 from PMID:22653751) recombines with sub-region 7' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 7 (BP1 from PMID:22653751) recombines with sub-region 7' within the DPY19L2 LCR2 recombination region 1 -chr12 63541806 63541854 non_allelic_homologous 0 + 63541806 63541854 160,82,45 recombination_feature sub-region 8 (BP5 from PMID:23555282) recombines with sub-region 8' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 23555282|PMID:23555282 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23555282] sub-region 8 (BP5 from PMID:23555282) recombines with sub-region 8' within the DPY19L2 LCR2 recombination region 1 -chr12 63541855 63541947 non_allelic_homologous 0 + 63541855 63541947 160,82,45 recombination_feature sub-region 9 (BP3 from PMID:22653751) recombines with sub-region 9' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 9 (BP3 from PMID:22653751) recombines with sub-region 9' within the DPY19L2 LCR2 recombination region 1 -chr12 63542933 63543198 non_allelic_homologous 0 + 63542933 63543198 160,82,45 recombination_feature sub-region 10 (BP7 from PMID:22653751) recombines with sub-region 10' within the DPY19L2 LCR2 recombination region 1 106007490|GeneID:106007490 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 10 (BP7 from PMID:22653751) recombines with sub-region 10' within the DPY19L2 LCR2 recombination region 1 -chr12 63551425 63551780 retrotransposon:THE1B 0 + 63551425 63551780 0,0,192 mobile_genetic_element direction; reverse 108720144|GeneID:108720144 direction; reverse -chr12 63551580 63551594 non_allelic_homologous 0 + 63551580 63551594 160,82,45 recombination_feature sub-region BP8 recombines with sub-region BP8' within the DPY19L2 LCR2 recombination region 2 108720144|GeneID:108720144 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region BP8 recombines with sub-region BP8' within the DPY19L2 LCR2 recombination region 2 -chr12 63551647 63551697 non_allelic_homologous 0 + 63551647 63551697 160,82,45 recombination_feature sub-region BP9 recombines with sub-region BP9' within the DPY19L2 LCR2 recombination region 2 108720144|GeneID:108720144 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region BP9 recombines with sub-region BP9' within the DPY19L2 LCR2 recombination region 2 -chr12 63736025 63736092 non_allelic_homologous 0 + 63736025 63736092 160,82,45 recombination_feature sub-region 1' (BP4 from PMID:23555282) recombines with sub-region 1 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 23555282|PMID:23555282 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23555282] sub-region 1' (BP4 from PMID:23555282) recombines with sub-region 1 within the DPY19L2 LCR2 recombination region 1 -chr12 63736215 63736272 non_allelic_homologous 0 + 63736215 63736272 160,82,45 recombination_feature sub-region 2' (BP1 from PMID:23555282) recombines with sub-region 2 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 23555282|PMID:23555282 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23555282] sub-region 2' (BP1 from PMID:23555282) recombines with sub-region 2 within the DPY19L2 LCR2 recombination region 1 -chr12 63736272 63736568 non_allelic_homologous 0 + 63736272 63736568 160,82,45 recombination_feature sub-region 3' (BP2 from PMID:22653751) recombines with sub-region 3 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 3' (BP2 from PMID:22653751) recombines with sub-region 3 within the DPY19L2 LCR2 recombination region 1 -chr12 63736569 63736612 non_allelic_homologous 0 + 63736569 63736612 160,82,45 recombination_feature sub-region 4' (BP5 from PMID:22653751) recombines with sub-region 4 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 4' (BP5 from PMID:22653751) recombines with sub-region 4 within the DPY19L2 LCR2 recombination region 1 -chr12 63736613 63736707 non_allelic_homologous 0 + 63736613 63736707 160,82,45 recombination_feature sub-region 5' (BP6 from PMID:22653751) recombines with sub-region 5 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 5' (BP6 from PMID:22653751) recombines with sub-region 5 within the DPY19L2 LCR2 recombination region 1 -chr12 63736628 63736916 SINE:AluSq2 0 + 63736628 63736916 0,0,192 mobile_genetic_element direction; forward 106007491|GeneID:106007491 direction; forward -chr12 63736708 63736738 non_allelic_homologous 0 + 63736708 63736738 160,82,45 recombination_feature sub-region 6' (BP4 from PMID:22653751) recombines with sub-region 6 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 6' (BP4 from PMID:22653751) recombines with sub-region 6 within the DPY19L2 LCR2 recombination region 1 -chr12 63736739 63736846 non_allelic_homologous 0 + 63736739 63736846 160,82,45 recombination_feature sub-region 7' (BP1 from PMID:22653751) recombines with sub-region 7 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 7' (BP1 from PMID:22653751) recombines with sub-region 7 within the DPY19L2 LCR2 recombination region 1 -chr12 63736846 63736894 non_allelic_homologous 0 + 63736846 63736894 160,82,45 recombination_feature sub-region 8' (BP5 from PMID:23555282) recombines with sub-region 8 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 23555282|PMID:23555282 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23555282] sub-region 8' (BP5 from PMID:23555282) recombines with sub-region 8 within the DPY19L2 LCR2 recombination region 1 -chr12 63736895 63736987 non_allelic_homologous 0 + 63736895 63736987 160,82,45 recombination_feature sub-region 9' (BP3 from PMID:22653751) recombines with sub-region 9 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 9' (BP3 from PMID:22653751) recombines with sub-region 9 within the DPY19L2 LCR2 recombination region 1 -chr12 63737981 63738246 non_allelic_homologous 0 + 63737981 63738246 160,82,45 recombination_feature sub-region 10' (BP7 from PMID:22653751) recombines with sub-region 10 within the DPY19L2 LCR2 recombination region 1 106007491|GeneID:106007491 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region 10' (BP7 from PMID:22653751) recombines with sub-region 10 within the DPY19L2 LCR2 recombination region 1 -chr12 63745991 63746659 meiotic 0 + 63745991 63746659 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 108720145|GeneID:108720145 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr12 63746488 63746844 retrotransposon:THE1B 0 + 63746488 63746844 0,0,192 mobile_genetic_element direction; reverse 108720145|GeneID:108720145 direction; reverse -chr12 63746645 63746659 non_allelic_homologous 0 + 63746645 63746659 160,82,45 recombination_feature sub-region BP8' recombines with sub-region BP8 within the DPY19L2 LCR1 recombination region 2 108720145|GeneID:108720145 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region BP8' recombines with sub-region BP8 within the DPY19L2 LCR1 recombination region 2 -chr12 63746711 63746761 non_allelic_homologous 0 + 63746711 63746761 160,82,45 recombination_feature sub-region BP9' recombines with sub-region BP9 within the DPY19L2 LCR2 recombination region 1 108720145|GeneID:108720145 22653751|PMID:22653751 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22653751] sub-region BP9' recombines with sub-region BP9 within the DPY19L2 LCR2 recombination region 1 -chr12 66733323 66735950 enhancer 0 + 66733323 66735950 0,128,128 enhancer VISTA enhancer hs1498 110121381|GeneID:110121381 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[10/15] | eye[4/15] VISTA enhancer hs1498 | enhancer in: hindbrain (rhombencephalon)[10/15] | eye[4/15] -chr12 97074924 97077311 enhancer 0 + 97074924 97077311 0,128,128 enhancer VISTA enhancer hs1341 110121349|GeneID:110121349 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/9] VISTA enhancer hs1341 | enhancer in: forebrain[9/9] -chr12 102951488 102952902 enhancer 0 + 102951488 102952902 0,128,128 enhancer VISTA enhancer hs1122 110121323|GeneID:110121323 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[6/7] VISTA enhancer hs1122 | enhancer in: eye[6/7] -chr12 102960549 102963140 enhancer 0 + 102960549 102963140 0,128,128 enhancer VISTA enhancer hs1574 110121402|GeneID:110121402 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[4/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] VISTA enhancer hs1574 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[4/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] -chr12 102977570 102978832 enhancer 0 + 102977570 102978832 0,128,128 enhancer VISTA enhancer hs1114 110121322|GeneID:110121322 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] VISTA enhancer hs1114 | enhancer in: neural tube[4/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] -chr12 103011331 103015018 enhancer 0 + 103011331 103015018 0,128,128 enhancer VISTA enhancer hs1540 110120957|GeneID:110120957 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/4] | forebrain[4/4] VISTA enhancer hs1540 | enhancer in: midbrain (mesencephalon)[4/4] | forebrain[4/4] -chr12 103012106 103014512 enhancer 0 + 103012106 103014512 0,128,128 enhancer VISTA enhancer hs1354 110120957|GeneID:110120957 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[15/16] | midbrain (mesencephalon)[15/16] | forebrain[15/16] | nose[11/16] VISTA enhancer hs1354 | enhancer in: hindbrain (rhombencephalon)[15/16] | midbrain (mesencephalon)[15/16] | forebrain[15/16] | nose[11/16] -chr12 103012345 103014376 enhancer 0 + 103012345 103014376 0,128,128 enhancer VISTA enhancer hs998 110120957|GeneID:110120957 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[8/8] | forebrain[7/8] | nose[4/8] VISTA enhancer hs998 | enhancer in: hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[8/8] | forebrain[7/8] | nose[4/8] -chr12 103090563 103091741 enhancer 0 + 103090563 103091741 0,128,128 enhancer VISTA enhancer hs967 110120954|GeneID:110120954 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs967 | enhancer in: forebrain[4/4] -chr12 103177203 103179620 enhancer 0 + 103177203 103179620 0,128,128 enhancer VISTA enhancer hs1575 110121403|GeneID:110121403 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/7] VISTA enhancer hs1575 | enhancer in: midbrain (mesencephalon)[4/7] -chr12 103220165 103221542 enhancer 0 + 103220165 103221542 0,128,128 enhancer VISTA enhancer hs1723 110121435|GeneID:110121435 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] | forebrain[5/8] VISTA enhancer hs1723 | enhancer in: midbrain (mesencephalon)[7/8] | forebrain[5/8] -chr12 111057592 111058448 enhancer 0 + 111057592 111058448 0,128,128 enhancer VISTA enhancer hs611 110120908|GeneID:110120908,23316|GeneID:23316 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/8] | forebrain[8/8] VISTA enhancer hs611 | enhancer in: hindbrain (rhombencephalon)[8/8] | forebrain[8/8] -chr12 113663389 113666000 enhancer 0 + 113663389 113666000 0,128,128 enhancer VISTA enhancer hs1571 110121401|GeneID:110121401 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/5] | forebrain[4/5] VISTA enhancer hs1571 | enhancer in: midbrain (mesencephalon)[5/5] | forebrain[4/5] -chr12 113932320 113934251 enhancer 0 + 113932320 113934251 0,128,128 enhancer VISTA enhancer hs1673 110121425|GeneID:110121425 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/9] | midbrain (mesencephalon)[7/9] VISTA enhancer hs1673 | enhancer in: neural tube[6/9] | midbrain (mesencephalon)[7/9] -chr12 114025906 114026275 enhancer 0 + 114025906 114026275 0,128,128 enhancer CRE2 109280164|GeneID:109280164,105369993|GeneID:105369993 22543974|PMID:22543974 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22543974] enhancer in the ventricles, atria CRE2 | enhancer in the ventricles, atria -chr12 114263401 114266886 enhancer 0 + 114263401 114266886 0,128,128 enhancer CRE9 109280163|GeneID:109280163 22543974|PMID:22543974 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22543974] enhancer in posterior portion of the heart CRE9 | enhancer in posterior portion of the heart -chr12 114415465 114420433 enhancer 0 + 114415465 114420433 0,128,128 enhancer CRE16 109280165|GeneID:109280165 22543974|PMID:22543974 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22543974] enhancer in ventricles, interventricular septum, atrioventricular canal CRE16 | enhancer in ventricles, interventricular septum, atrioventricular canal -chr12 114684176 114684686 promoter 0 + 114684176 114684686 0,128,128 promoter S-Tbx3 promoter fragment 109286556|GeneID:109286556,105370000|GeneID:105370000 17283120|PMID:17283120 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17283120] S-Tbx3 promoter fragment -chr12 114684227 114684249 protein_bind: nuclear transcription factor Y subunit beta 0 + 114684227 114684249 192,0,0 protein_binding_site CCAAT -81/-63 site 109286556|GeneID:109286556,105370000|GeneID:105370000 21784138|PMID:21784138 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21784138] CCAAT -81/-63 site | nuclear transcription factor Y subunit beta -chr12 114684518 114684541 protein_bind: Jun and JunB proto-oncogene, AP-1 transcription factor subunits 0 + 114684518 114684541 192,0,0 protein_binding_site AP1 -371/-367 site 109286556|GeneID:109286556,105370000|GeneID:105370000 17283120|PMID:17283120 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17283120] AP1 -371/-367 site | Jun and JunB proto-oncogene, AP-1 transcription factor subunits -chr12 114686588 114687495 enhancer 0 + 114686588 114687495 0,128,128 enhancer VISTA enhancer hs483 110120878|GeneID:110120878,105370000|GeneID:105370000 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/9] VISTA enhancer hs483 | enhancer in: limb[5/9] -chr12 124466172 124466286 enhancer 0 + 124466172 124466286 0,128,128 enhancer 106783497|GeneID:106783497 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr12_GL383552v1_alt 45632 48521 enhancer 0 + 45632 48521 0,128,128 enhancer VISTA enhancer hs1468 110121374|GeneID:110121374 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs1468 | enhancer in: limb[3/5] -chr13 24251727 24251862 enhancer 0 + 24251727 24251862 0,128,128 enhancer 106783494|GeneID:106783494,221178|GeneID:221178 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr13 27744441 27745997 enhancer 0 + 27744441 27745997 0,128,128 enhancer VISTA enhancer hs1568 110121400|GeneID:110121400 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | forebrain[3/5] VISTA enhancer hs1568 | enhancer in: hindbrain (rhombencephalon)[4/5] | forebrain[3/5] -chr13 27821823 27823399 enhancer 0 + 27821823 27823399 0,128,128 enhancer VISTA enhancer hs532 110120889|GeneID:110120889 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/7] | midbrain (mesencephalon)[7/7] | forebrain[6/7] VISTA enhancer hs532 | enhancer in: hindbrain (rhombencephalon)[3/7] | midbrain (mesencephalon)[7/7] | forebrain[6/7] -chr13 30790780 30793754 enhancer 0 + 30790780 30793754 0,128,128 enhancer VISTA enhancer hs1515 110121384|GeneID:110121384 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/11] | branchial arch[8/11] | heart[4/11] VISTA enhancer hs1515 | enhancer in: neural tube[5/11] | branchial arch[8/11] | heart[4/11] -chr13 32314558 32314779 protein_bind: snail family zinc finger 2 0 + 32314558 32314779 192,0,0 protein_binding_site 221 bp amplicon 106721785|GeneID:106721785 15734731|PMID:15734731 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15734731] promotes repression of transcription 221 bp amplicon | promotes repression of transcription | snail family zinc finger 2 -chr13 32314558 32314779 silencer 0 + 32314558 32314779 0,128,128 silencer 221 bp amplicon 106721785|GeneID:106721785 10558858|PMID:10558858 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10558858] 221 bp amplicon -chr13 32314568 32314853 SINE:AluSp 0 + 32314568 32314853 0,0,192 mobile_genetic_element 106721785|GeneID:106721785 mobile_genetic_element -chr13 32314897 32314964 transcriptional_cis_regulatory_region 0 + 32314897 32314964 0,128,128 region -582 to -515 region 106721785|GeneID:106721785 10961992|PMID:10961992,18990703|PMID:18990703 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10961992, PMID:18990703] negative regulator of transcription -582 to -515 region | negative regulator of transcription -chr13 32314921 32314946 protein_bind: poly (ADP-ribose) polymerase 1 0 + 32314921 32314946 192,0,0 protein_binding_site 106721785|GeneID:106721785 18990703|PMID:18990703 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18990703] promotes repression of transcription promotes repression of transcription | poly (ADP-ribose) polymerase 1 -chr13 32315292 32315789 promoter 0 + 32315292 32315789 0,128,128 promoter 497 bp promoter amplicon 106721785|GeneID:106721785 20202217|PMID:20202217 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20202217] cell-cycle dependent bi-directional promoter 497 bp promoter amplicon | cell-cycle dependent bi-directional promoter -chr13 32315349 32315386 protein_bind: nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 0 + 32315349 32315386 192,0,0 protein_binding_site 106721785|GeneID:106721785 10961992|PMID:10961992 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10961992] promotes transcription promotes transcription | nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 -chr13 32315444 32315470 protein_bind: upstream transcription factor 1 0 + 32315444 32315470 192,0,0 protein_binding_site binding antagonized by p53 (PMID:12591928), resulting in repression of expression 106721785|GeneID:106721785 10961992|PMID:10961992,12591928|PMID:12591928 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10961992, PMID:12591928] binding antagonized by p53 (PMID:12591928), resulting in repression of expression | upstream transcription factor 1 -chr13 35198134 35200283 enhancer 0 + 35198134 35200283 0,128,128 enhancer VISTA enhancer hs1330 110121346|GeneID:110121346,26960|GeneID:26960 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[3/4] VISTA enhancer hs1330 | enhancer in: neural tube[3/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[3/4] -chr13 35476296 35476353 repeat_instability_region 0 + 35476296 35476353 192,0,192 sequence_feature repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) to around 40-50 repeats results in meiotic instability of the repeat and somatic mosaicism 109580097|GeneID:109580097,26960|GeneID:26960 8733127|PMID:8733127,9152839|PMID:9152839 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9152839, PMID:8733127] repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) to around 40-50 repeats results in meiotic instability of the repeat and somatic mosaicism -chr13 35476296 35476355 tandem 0 + 35476296 35476355 0,0,192 repeat_region 109580097|GeneID:109580097,26960|GeneID:26960 repeat_region -chr13 35498776 35501835 enhancer 0 + 35498776 35501835 0,128,128 enhancer VISTA enhancer hs1333 110121347|GeneID:110121347,26960|GeneID:26960 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/11] | nose[6/11] VISTA enhancer hs1333 | enhancer in: midbrain (mesencephalon)[7/11] | nose[6/11] -chr13 40406360 40407004 enhancer 0 + 40406360 40407004 0,128,128 enhancer amplified fragment containing the chr13:40980611-40981000 (GRCh37) region with regulatory potential 108318668|GeneID:108318668 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr13:40980611-40981000 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr13 40406473 40406863 epigenetically_modified_region 0 + 40406473 40406863 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108318668|GeneID:108318668 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr13 40911481 40912189 enhancer 0 + 40911481 40912189 0,128,128 enhancer chr13 POU3F2 HCT overlapping SUGT1P3 108175343|GeneID:108175343 20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20363979] HCT enhancer chr13 POU3F2 HCT overlapping SUGT1P3 | HCT enhancer -chr13 40911656 40911931 conserved_region 0 + 40911656 40911931 192,0,192 sequence_feature conserved region; HCT with multiple POU3F2 binding motifs 108175343|GeneID:108175343 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple POU3F2 binding motifs -chr13 42593234 42595461 enhancer 0 + 42593234 42595461 0,128,128 enhancer VISTA enhancer hs1393 110121359|GeneID:110121359,8600|GeneID:8600 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] VISTA enhancer hs1393 | enhancer in: forebrain[6/7] -chr13 43153711 43154235 enhancer 0 + 43153711 43154235 0,128,128 enhancer amplified fragment containing the chr13:43727960-43728297 (GRCh37) CAGE region 108281153|GeneID:108281153,100874159|GeneID:100874159 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr13:43727960-43728297 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr13 43153823 43154161 CAGE_cluster 0 + 43153823 43154161 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281153|GeneID:108281153,100874159|GeneID:100874159 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr13 60690560 60694062 meiotic 0 + 60690560 60694062 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU and YRI populations 107457599|GeneID:107457599,101926930|GeneID:101926930 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU and YRI populations -chr13 60690759 60690775 nucleotide_motif 0 + 60690759 60690775 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457599|GeneID:107457599,101926930|GeneID:101926930 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr13 60691298 60693463 meiotic 0 + 60691298 60693463 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457599|GeneID:107457599,101926930|GeneID:101926930 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr13 60691786 60693186 meiotic 0 + 60691786 60693186 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457599|GeneID:107457599,101926930|GeneID:101926930 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr13 60692525 60692538 nucleotide_motif 0 + 60692525 60692538 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot 107457599|GeneID:107457599,101926930|GeneID:101926930 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot -chr13 66035666 66036616 enhancer 0 + 66035666 66036616 0,128,128 enhancer VISTA enhancer hs881 110120945|GeneID:110120945,105370245|GeneID:105370245 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[6/8] VISTA enhancer hs881 | enhancer in: nose[6/8] -chr13 67854984 67856394 enhancer 0 + 67854984 67856394 0,128,128 enhancer VISTA enhancer hs575 110120897|GeneID:110120897 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] VISTA enhancer hs575 | enhancer in: midbrain (mesencephalon)[7/8] -chr13 70139351 70139383 tandem 0 + 70139351 70139383 0,0,192 repeat_region nucleotide motif; polymorphic, but stable (CTA)n repeat 109461478|GeneID:109461478,6315|GeneID:6315 nucleotide motif; polymorphic, but stable (CTA)n repeat -chr13 70139383 70139428 repeat_instability_region 0 + 70139383 70139428 192,0,192 sequence_feature repeat instability region; expansion of the (CTG)n trinucleotide repeat is associated with spinocerebellar ataxia type 8 109461478|GeneID:109461478,6315|GeneID:6315 10192387|PMID:10192387 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:10192387] repeat instability region; expansion of the (CTG)n trinucleotide repeat is associated with spinocerebellar ataxia type 8 -chr13 70139383 70139429 tandem 0 + 70139383 70139429 0,0,192 repeat_region 109461478|GeneID:109461478,6315|GeneID:6315 repeat_region -chr13 70769476 70770736 enhancer 0 + 70769476 70770736 0,128,128 enhancer VISTA enhancer hs126 110120827|GeneID:110120827,105370255|GeneID:105370255 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/7] VISTA enhancer hs126 | enhancer in: limb[6/7] -chr13 70783960 70785375 enhancer 0 + 70783960 70785375 0,128,128 enhancer VISTA enhancer hs540 110120891|GeneID:110120891,105370255|GeneID:105370255 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/9] VISTA enhancer hs540 | enhancer in: forebrain[6/9] -chr13 70958904 70960063 enhancer 0 + 70958904 70960063 0,128,128 enhancer VISTA enhancer hs882 110120946|GeneID:110120946 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[8/8] | trigeminal V (ganglion, cranial)[8/8] VISTA enhancer hs882 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[8/8] | trigeminal V (ganglion, cranial)[8/8] -chr13 71200715 71201236 enhancer 0 + 71200715 71201236 0,128,128 enhancer VISTA enhancer hs129 110120828|GeneID:110120828 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[2/4] VISTA enhancer hs129 | enhancer in: eye[2/4] -chr13 71726716 71728802 enhancer 0 + 71726716 71728802 0,128,128 enhancer VISTA enhancer hs137 110120831|GeneID:110120831 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/3] VISTA enhancer hs137 | enhancer in: hindbrain (rhombencephalon)[3/3] -chr13 71759383 71760856 enhancer 0 + 71759383 71760856 0,128,128 enhancer VISTA enhancer hs619 110120909|GeneID:110120909 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/8] | forebrain[6/8] VISTA enhancer hs619 | enhancer in: midbrain (mesencephalon)[5/8] | forebrain[6/8] -chr13 71771847 71774098 enhancer 0 + 71771847 71774098 0,128,128 enhancer VISTA enhancer hs188 110120843|GeneID:110120843 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/7] VISTA enhancer hs188 | enhancer in: eye[3/7] -chr13 71851654 71854203 enhancer 0 + 71851654 71854203 0,128,128 enhancer VISTA enhancer hs138 110120832|GeneID:110120832 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/5] | hindbrain (rhombencephalon)[5/5] | forebrain[4/5] | eye[3/5] | cranial nerve[5/5] VISTA enhancer hs138 | enhancer in: neural tube[5/5] | hindbrain (rhombencephalon)[5/5] | forebrain[4/5] | eye[3/5] | cranial nerve[5/5] -chr13 72197132 72199738 enhancer 0 + 72197132 72199738 0,128,128 enhancer VISTA enhancer hs131 110120829|GeneID:110120829 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/4] VISTA enhancer hs131 | enhancer in: eye[3/4] -chr13 72426944 72428915 enhancer 0 + 72426944 72428915 0,128,128 enhancer VISTA enhancer hs141 110120833|GeneID:110120833 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[2/2] | eye[2/2] VISTA enhancer hs141 | enhancer in: dorsal root ganglion[2/2] | eye[2/2] -chr13 72507308 72509616 enhancer 0 + 72507308 72509616 0,128,128 enhancer VISTA enhancer hs142 110120834|GeneID:110120834 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/3] VISTA enhancer hs142 | enhancer in: limb[3/3] -chr13 72574915 72575890 enhancer 0 + 72574915 72575890 0,128,128 enhancer VISTA enhancer hs135 110120830|GeneID:110120830 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/4] VISTA enhancer hs135 | enhancer in: eye[3/4] -chr13 77831992 77833579 enhancer 0 + 77831992 77833579 0,128,128 enhancer VISTA enhancer hs1394 110121360|GeneID:110121360,100505518|GeneID:100505518 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/9] | forebrain[4/9] VISTA enhancer hs1394 | enhancer in: hindbrain (rhombencephalon)[6/9] | forebrain[4/9] -chr13 77918759 77919832 promoter 0 + 77918759 77919832 0,128,128 promoter -187 to -1259 relative to translation start codon; described in PMID:11054415 107882129|GeneID:107882129 11054415|PMID:11054415,24265756|PMID:24265756 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11054415, PMID:24265756] promoter induced by Jun and Cebpb in non-pigmented ciliary epithelial (HNPE) cells -187 to -1259 relative to translation start codon; described in PMID:11054415 | promoter induced by Jun and Cebpb in non-pigmented ciliary epithelial (HNPE) cells -chr13 77918821 77918936 promoter 0 + 77918821 77918936 0,128,128 promoter -102 to -12 fragment 107882129|GeneID:107882129 16623715|PMID:16623715 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16623715] basal promoter in epidermal melanocytes -102 to -12 fragment | basal promoter in epidermal melanocytes -chr13 77918845 77918890 protein_bind: SRY-box 10 0 + 77918845 77918890 192,0,0 protein_binding_site GC1/CA2 107882129|GeneID:107882129 16623715|PMID:16623715 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16623715] synergizes with Sp1 to promote gene expression GC1/CA2 | synergizes with Sp1 to promote gene expression | SRY-box 10 -chr13 77918845 77918890 protein_bind: Sp1 transcription factor 0 + 77918845 77918890 192,0,0 protein_binding_site GC1/CA2 107882129|GeneID:107882129 16623715|PMID:16623715 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16623715] synergizes with Sox10 to promote gene expression GC1/CA2 | synergizes with Sox10 to promote gene expression | Sp1 transcription factor -chr13 77918872 77918908 protein_bind: SRY-box 10 0 + 77918872 77918908 192,0,0 protein_binding_site CA1 107882129|GeneID:107882129 16623715|PMID:16623715 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16623715] promotes gene expression CA1 | promotes gene expression | SRY-box 10 -chr13 77919187 77919197 transcriptional_cis_regulatory_region 0 + 77919187 77919197 0,128,128 region -615 to -624 107882129|GeneID:107882129 24265756|PMID:24265756 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24265756] responds to Jun to promote expression -615 to -624 | responds to Jun to promote expression -chr13 77975612 77976074 enhancer 0 + 77975612 77976074 0,128,128 enhancer LTR-EBR 107882127|GeneID:107882127 11054415|PMID:11054415 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11054415] increases activity of native promoter in a reporter construct LTR-EBR | increases activity of native promoter in a reporter construct -chr13 77975612 77976074 promoter 0 + 77975612 77976074 0,128,128 promoter LTR-EBR 107882127|GeneID:107882127 11054415|PMID:11054415 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11054415] promoter in placental JEG-3 cells LTR-EBR | promoter in placental JEG-3 cells -chr13 77975612 77976074 retrotransposon:HARLEQUINLTR 0 + 77975612 77976074 0,0,192 mobile_genetic_element 107882127|GeneID:107882127 mobile_genetic_element -chr13 77975952 77975964 transcriptional_cis_regulatory_region 0 + 77975952 77975964 0,128,128 region LPE (LTR placental enhancer 1) 107882127|GeneID:107882127 12805445|PMID:12805445 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12805445] important for promoter activity LPE (LTR placental enhancer 1) | important for promoter activity -chr13 78401879 78403203 enhancer 0 + 78401879 78403203 0,128,128 enhancer VISTA enhancer hs915 110120950|GeneID:110120950,100874222|GeneID:100874222 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/8] | limb[8/8] VISTA enhancer hs915 | enhancer in: midbrain (mesencephalon)[8/8] | limb[8/8] -chr13 79658110 79660495 enhancer 0 + 79658110 79660495 0,128,128 enhancer VISTA enhancer hs1471 110121375|GeneID:110121375 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/6] | branchial arch[5/6] | other[5/6] VISTA enhancer hs1471 | enhancer in: limb[5/6] | branchial arch[5/6] | other[5/6] -chr13 94661597 94663187 enhancer 0 + 94661597 94663187 0,128,128 enhancer VISTA enhancer hs796 110120933|GeneID:110120933 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs796 | enhancer in: forebrain[4/5] -chr13 94706008 94707763 enhancer 0 + 94706008 94707763 0,128,128 enhancer VISTA enhancer hs488 110120881|GeneID:110120881 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[12/12] | hindbrain (rhombencephalon)[12/12] | midbrain (mesencephalon)[12/12] | forebrain[12/12] VISTA enhancer hs488 | enhancer in: neural tube[12/12] | hindbrain (rhombencephalon)[12/12] | midbrain (mesencephalon)[12/12] | forebrain[12/12] -chr13 94966209 94967565 enhancer 0 + 94966209 94967565 0,128,128 enhancer VISTA enhancer hs341 110120855|GeneID:110120855 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[5/9] VISTA enhancer hs341 | enhancer in: neural tube[7/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[5/9] -chr13 94966261 94967596 enhancer 0 - 94966261 94967596 0,128,128 enhancer VISTA enhancer hs189 110120844|GeneID:110120844 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/13] VISTA enhancer hs189 | enhancer in: neural tube[10/13] -chr13 99985448 99985494 tandem 0 + 99985448 99985494 0,0,192 repeat_region 110008580|GeneID:110008580,7546|GeneID:7546 repeat_region -chr13 99985454 99985484 repeat_instability_region 0 + 99985454 99985484 192,0,192 sequence_feature repeat instability region; expansions and contractions of the polyalanine-encoding repeat tract are associated with holoprosencephaly (HPE) 110008580|GeneID:110008580,7546|GeneID:7546 9771712|PMID:9771712,11285244|PMID:11285244,21940735|PMID:21940735,22847929|PMID:22847929 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11285244, PMID:9771712, PMID:22847929, PMID:21940735] repeat instability region; expansions and contractions of the polyalanine-encoding repeat tract are associated with holoprosencephaly (HPE) -chr13 105115721 105119547 enhancer 0 + 105115721 105119547 0,128,128 enhancer VISTA enhancer hs1991 110121473|GeneID:110121473 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[7/7] VISTA enhancer hs1991 | enhancer in: limb[7/7] -chr13 105363247 105364577 enhancer 0 + 105363247 105364577 0,128,128 enhancer VISTA enhancer hs759 110120930|GeneID:110120930 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/14] | hindbrain (rhombencephalon)[10/14] VISTA enhancer hs759 | enhancer in: neural tube[10/14] | hindbrain (rhombencephalon)[10/14] -chr13 109454652 109454928 enhancer 0 + 109454652 109454928 0,128,128 enhancer heart enhancer 14 107992391|GeneID:107992391 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 14 | enhancer in heart -chr13 111615719 111616741 enhancer 0 + 111615719 111616741 0,128,128 enhancer VISTA enhancer hs1246 110121336|GeneID:110121336,105370369|GeneID:105370369 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/12] VISTA enhancer hs1246 | enhancer in: dorsal root ganglion[4/12] -chr14 20451643 20453462 silencer 0 + 20451643 20453462 0,128,128 silencer 1.9 kb HindIII/SmaI fragment 107372315|GeneID:107372315 8942627|PMID:8942627 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8942627] negatively regulates APEX1 expression 1.9 kb HindIII/SmaI fragment | negatively regulates APEX1 expression -chr14 20452330 20452345 nucleotide_motif 0 + 20452330 20452345 192,0,192 sequence_feature nucleotide motif; nCaRE-A 107372315|GeneID:107372315 8942627|PMID:8942627 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:8942627] nucleotide motif; nCaRE-A -chr14 20452724 20452747 protein_bind: apurinic/apyrimidinic endodeoxyribonuclease 1 0 + 20452724 20452747 192,0,0 protein_binding_site nCaRE-B1 107372315|GeneID:107372315 8942627|PMID:8942627 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8942627] nCaRE-B1 | apurinic/apyrimidinic endodeoxyribonuclease 1 -chr14 20452728 20452744 nucleotide_motif 0 + 20452728 20452744 192,0,192 sequence_feature nucleotide motif; nCaRE-B1 107372315|GeneID:107372315 8942627|PMID:8942627 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:8942627] nucleotide motif; nCaRE-B1 -chr14 20452728 20453007 SINE:AluSg 0 + 20452728 20453007 0,0,192 mobile_genetic_element 107372315|GeneID:107372315 mobile_genetic_element -chr14 20453378 20453403 protein_bind: apurinic/apyrimidinic endodeoxyribonuclease 1 0 + 20453378 20453403 192,0,0 protein_binding_site nCaRE-B2 107372315|GeneID:107372315 8942627|PMID:8942627,11809897|PMID:11809897 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8942627, PMID:11809897] nCaRE-B2 | apurinic/apyrimidinic endodeoxyribonuclease 1 -chr14 20453378 20453403 protein_bind: heterogeneous nuclear ribonucleoprotein L 0 + 20453378 20453403 192,0,0 protein_binding_site nCaRE-B2 107372315|GeneID:107372315 11809897|PMID:11809897 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11809897] nCaRE-B2 | heterogeneous nuclear ribonucleoprotein L -chr14 20453382 20453401 nucleotide_motif 0 + 20453382 20453401 192,0,192 sequence_feature nucleotide motif; nCaRE-B2 107372315|GeneID:107372315 8942627|PMID:8942627 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:8942627] nucleotide motif; nCaRE-B2 -chr14 20453382 20453667 SINE:AluSp 0 + 20453382 20453667 0,0,192 mobile_genetic_element 107372315|GeneID:107372315 mobile_genetic_element -chr14 20454575 20454596 protein_bind: activating transcription factor 2 0 + 20454575 20454596 192,0,0 protein_binding_site APE-C 107372315|GeneID:107372315 10441516|PMID:10441516 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10441516] contributes to induction of transcription by hydrogen peroxide APE-C | contributes to induction of transcription by hydrogen peroxide | activating transcription factor 2 -chr14 20454575 20454596 protein_bind: jun proto-oncogene 0 + 20454575 20454596 192,0,0 protein_binding_site APE-C 107372315|GeneID:107372315 10441516|PMID:10441516 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10441516] contributes to induction of transcription by hydrogen peroxide APE-C | contributes to induction of transcription by hydrogen peroxide | jun proto-oncogene -chr14 20454724 20455169 promoter 0 + 20454724 20455169 0,128,128 promoter -486 to -42 from OSGEP major translation start site 107372315|GeneID:107372315 12039036|PMID:12039036 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12039036] minimal promoter for OSGEP gene -486 to -42 from OSGEP major translation start site | minimal promoter for OSGEP gene -chr14 20454795 20455126 transcriptional_cis_regulatory_region 0 + 20454795 20455126 0,128,128 region -141 to -471 from APEX1 transcription start site mapped in PMID:7534297 107372315|GeneID:107372315 7534297|PMID:7534297,9506886|PMID:9506886 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9506886] important for antisense/bidirectional promoter activity -141 to -471 from APEX1 transcription start site mapped in PMID:7534297 | important for antisense/bidirectional promoter activity -chr14 20454798 20455336 promoter 0 + 20454798 20455336 0,128,128 promoter pCB22 fragment 107372315|GeneID:107372315 7534297|PMID:7534297 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7534297] pCB22 fragment -chr14 20455000 20455335 promoter 0 + 20455000 20455335 0,128,128 promoter -130 to +205 from APEX1 transcription start site mapped in PMID:8086453 107372315|GeneID:107372315 8086453|PMID:8086453 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8086453] minimal core promoter -130 to +205 from APEX1 transcription start site mapped in PMID:8086453 | minimal core promoter -chr14 20455056 20455212 transcriptional_cis_regulatory_region 0 + 20455056 20455212 0,128,128 region -210 to -55 from APEX1 transcription start site mapped in PMID:7534297 107372315|GeneID:107372315 7534297|PMID:7534297 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7534297] required for optimal APEX1 promoter activity -210 to -55 from APEX1 transcription start site mapped in PMID:7534297 | required for optimal APEX1 promoter activity -chr14 20455082 20455124 transcriptional_cis_regulatory_region 0 + 20455082 20455124 0,128,128 region -184 to -143 from APEX1 transcription start site mapped in PMID:7534297 107372315|GeneID:107372315 7534297|PMID:7534297,18208837|PMID:18208837 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18208837] required for repression of transcription by p53 protein -184 to -143 from APEX1 transcription start site mapped in PMID:7534297 | required for repression of transcription by p53 protein -chr14 20455097 20455119 protein_bind: Sp1 transcription factor 0 + 20455097 20455119 192,0,0 protein_binding_site 107372315|GeneID:107372315 7534297|PMID:7534297 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:7534297] protein_binding_site | Sp1 transcription factor -chr14 20455120 20455126 transcriptional_cis_regulatory_region 0 + 20455120 20455126 0,128,128 region E box E3 107372315|GeneID:107372315 18971960|PMID:18971960 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18971960] important for stimulation of transcription by microphthalmia-associated transcription factor E box E3 | important for stimulation of transcription by microphthalmia-associated transcription factor -chr14 20455136 20455169 transcriptional_cis_regulatory_region 0 + 20455136 20455169 0,128,128 region -486 to -454 from OSGEP major translation start site 107372315|GeneID:107372315,328|GeneID:328 12039036|PMID:12039036 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12039036] required for OSGEP promoter activity -486 to -454 from OSGEP major translation start site | required for OSGEP promoter activity -chr14 20455138 20455143 CAAT_signal 0 + 20455138 20455143 0,128,128 CAAT_signal 107372315|GeneID:107372315,328|GeneID:328 7534297|PMID:7534297 COORDINATES:motif similarity evidence [ECO:0000028][PMID:7534297] CAAT_signal -chr14 20455171 20455332 protein_bind: upstream transcription factor 0 + 20455171 20455332 192,0,0 protein_binding_site probe I (-95 to +65) 107372315|GeneID:107372315,328|GeneID:328 7534297|PMID:7534297 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7534297] probe I (-95 to +65) | upstream transcription factor -chr14 20455181 20455187 transcriptional_cis_regulatory_region 0 + 20455181 20455187 0,128,128 region E box E2 107372315|GeneID:107372315,328|GeneID:328 18971960|PMID:18971960 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18971960] important for stimulation of transcription by microphthalmia-associated transcription factor E box E2 | important for stimulation of transcription by microphthalmia-associated transcription factor -chr14 20455202 20455208 transcriptional_cis_regulatory_region 0 + 20455202 20455208 0,128,128 region E box E1 107372315|GeneID:107372315,328|GeneID:328 18971960|PMID:18971960 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18971960] necessary for stimulation of transcription by microphthalmia-associated transcription factor E box E1 | necessary for stimulation of transcription by microphthalmia-associated transcription factor -chr14 21621903 21621946 TRAV1-1 leader sequence 0 + 21621903 21621946 192,0,192 sequence_feature TRAV1-1 leader sequence 28693|GeneID:28693 TRAV1-1 leader sequence -chr14 21622284 21622292 TRAV1-1 leader sequence 0 + 21622284 21622292 192,0,192 sequence_feature TRAV1-1 leader sequence 28693|GeneID:28693 TRAV1-1 leader sequence -chr14 21622574 21622597 misc_recomb: TRAV1-1 0 + 21622574 21622597 160,82,45 recombination_feature spacer 6955|GeneID:6955 spacer -chr14 21622597 21622606 misc_recomb: TRAV1-1 0 + 21622597 21622606 160,82,45 recombination_feature nonamer 6955|GeneID:6955 nonamer -chr14 21642972 21643015 TRAV1-2 leader sequence 0 + 21642972 21643015 192,0,192 sequence_feature TRAV1-2 leader sequence 28692|GeneID:28692 TRAV1-2 leader sequence -chr14 21643303 21643311 TRAV1-2 leader sequence 0 + 21643303 21643311 192,0,192 sequence_feature TRAV1-2 leader sequence 28692|GeneID:28692 TRAV1-2 leader sequence -chr14 21643593 21643616 misc_recomb: TRAV1-2 0 + 21643593 21643616 160,82,45 recombination_feature spacer 28692|GeneID:28692 spacer -chr14 21643616 21643625 misc_recomb: TRAV1-2 0 + 21643616 21643625 160,82,45 recombination_feature nonamer 28692|GeneID:28692 nonamer -chr14 21703051 21705074 enhancer 0 + 21703051 21705074 0,128,128 enhancer VISTA enhancer hs1705 110121433|GeneID:110121433,6955|GeneID:6955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] | facial mesenchyme[7/7] VISTA enhancer hs1705 | enhancer in: forebrain[6/7] | facial mesenchyme[7/7] -chr14 21711551 21711571 promoter 0 + 21711551 21711571 0,128,128 promoter 28691|GeneID:28691 promoter -chr14 21712330 21712394 TRAV2 leader sequence 0 + 21712330 21712394 192,0,192 sequence_feature TRAV2 leader sequence 28691|GeneID:28691 TRAV2 leader sequence -chr14 21712569 21712580 TRAV2 leader sequence 0 + 21712569 21712580 192,0,192 sequence_feature TRAV2 leader sequence 28691|GeneID:28691 TRAV2 leader sequence -chr14 21712850 21712873 misc_recomb: TRAV2 0 + 21712850 21712873 160,82,45 recombination_feature spacer 28691|GeneID:28691 spacer -chr14 21712873 21712882 misc_recomb: TRAV2 0 + 21712873 21712882 160,82,45 recombination_feature nonamer 28691|GeneID:28691 nonamer -chr14 21723597 21723617 promoter 0 + 21723597 21723617 0,128,128 promoter 28690|GeneID:28690 promoter -chr14 21723888 21723934 TRAV3 leader sequence 0 + 21723888 21723934 192,0,192 sequence_feature TRAV3 leader sequence 28690|GeneID:28690 TRAV3 leader sequence -chr14 21724024 21724035 TRAV3 leader sequence 0 + 21724024 21724035 192,0,192 sequence_feature TRAV3 leader sequence 28690|GeneID:28690 TRAV3 leader sequence -chr14 21724328 21724351 misc_recomb: TRAV3 0 + 21724328 21724351 160,82,45 recombination_feature spacer 28690|GeneID:28690 spacer -chr14 21724351 21724360 misc_recomb: TRAV3 0 + 21724351 21724360 160,82,45 recombination_feature nonamer 28690|GeneID:28690 nonamer -chr14 21736218 21736258 TRAV4 leader sequence 0 + 21736218 21736258 192,0,192 sequence_feature TRAV4 leader sequence 28689|GeneID:28689 TRAV4 leader sequence -chr14 21736694 21736705 TRAV4 leader sequence 0 + 21736694 21736705 192,0,192 sequence_feature TRAV4 leader sequence 28689|GeneID:28689 TRAV4 leader sequence -chr14 21736989 21737012 misc_recomb: TRAV4 0 + 21736989 21737012 160,82,45 recombination_feature spacer 28689|GeneID:28689 spacer -chr14 21737012 21737021 misc_recomb: TRAV4 0 + 21737012 21737021 160,82,45 recombination_feature nonamer 28689|GeneID:28689 nonamer -chr14 21748991 21749011 promoter 0 + 21748991 21749011 0,128,128 promoter 28688|GeneID:28688 promoter -chr14 21749189 21749241 TRAV5 leader sequence 0 + 21749189 21749241 192,0,192 sequence_feature TRAV5 leader sequence 28688|GeneID:28688 TRAV5 leader sequence -chr14 21749417 21749428 TRAV5 leader sequence 0 + 21749417 21749428 192,0,192 sequence_feature TRAV5 leader sequence 28688|GeneID:28688 TRAV5 leader sequence -chr14 21749712 21749735 misc_recomb: TRAV5 0 + 21749712 21749735 160,82,45 recombination_feature spacer 28688|GeneID:28688 spacer -chr14 21749735 21749744 misc_recomb: TRAV5 0 + 21749735 21749744 160,82,45 recombination_feature nonamer 28688|GeneID:28688 nonamer -chr14 21768305 21768325 promoter 0 + 21768305 21768325 0,128,128 promoter 6956|GeneID:6956 promoter -chr14 21768552 21768604 TRAV6 leader sequence 0 + 21768552 21768604 192,0,192 sequence_feature TRAV6 leader sequence 6956|GeneID:6956 TRAV6 leader sequence -chr14 21768792 21768800 TRAV6 leader sequence 0 + 21768792 21768800 192,0,192 sequence_feature TRAV6 leader sequence 6956|GeneID:6956 TRAV6 leader sequence -chr14 21769087 21769110 misc_recomb: TRAV6 0 + 21769087 21769110 160,82,45 recombination_feature spacer 6956|GeneID:6956 spacer -chr14 21769110 21769119 misc_recomb: TRAV6 0 + 21769110 21769119 160,82,45 recombination_feature nonamer 6956|GeneID:6956 nonamer -chr14 21782785 21782805 promoter 0 + 21782785 21782805 0,128,128 promoter 28686|GeneID:28686 promoter -chr14 21782992 21783044 TRAV7 leader sequence 0 + 21782992 21783044 192,0,192 sequence_feature TRAV7 leader sequence 28686|GeneID:28686 TRAV7 leader sequence -chr14 21783218 21783229 TRAV7 leader sequence 0 + 21783218 21783229 192,0,192 sequence_feature TRAV7 leader sequence 28686|GeneID:28686 TRAV7 leader sequence -chr14 21783510 21783533 misc_recomb: TRAV7 0 + 21783510 21783533 160,82,45 recombination_feature spacer 28686|GeneID:28686 spacer -chr14 21783533 21783542 misc_recomb: TRAV7 0 + 21783533 21783542 160,82,45 recombination_feature nonamer 28686|GeneID:28686 nonamer -chr14 21797090 21797110 promoter 0 + 21797090 21797110 0,128,128 promoter 28685|GeneID:28685 promoter -chr14 21797418 21797464 TRAV8-1 leader sequence 0 + 21797418 21797464 192,0,192 sequence_feature TRAV8-1 leader sequence 28685|GeneID:28685 TRAV8-1 leader sequence -chr14 21797591 21797602 TRAV8-1 leader sequence 0 + 21797591 21797602 192,0,192 sequence_feature TRAV8-1 leader sequence 28685|GeneID:28685 TRAV8-1 leader sequence -chr14 21797893 21797916 misc_recomb: TRAV8-1 0 + 21797893 21797916 160,82,45 recombination_feature spacer 28685|GeneID:28685 spacer -chr14 21797916 21797925 misc_recomb: TRAV8-1 0 + 21797916 21797925 160,82,45 recombination_feature nonamer 28685|GeneID:28685 nonamer -chr14 21811379 21811399 promoter 0 + 21811379 21811399 0,128,128 promoter 6955|GeneID:6955 promoter -chr14 21811501 21811547 TRAV9-1 leader sequence 0 + 21811501 21811547 192,0,192 sequence_feature TRAV9-1 leader sequence 28678|GeneID:28678 TRAV9-1 leader sequence -chr14 21811685 21811977 TRAV9-1 leader sequence 0 + 21811685 21811977 192,0,192 sequence_feature TRAV9-1 leader sequence 28678|GeneID:28678 TRAV9-1 leader sequence -chr14 21811984 21812007 misc_recomb: TRAV9-1 0 + 21811984 21812007 160,82,45 recombination_feature spacer 6955|GeneID:6955 spacer -chr14 21812007 21812016 misc_recomb: TRAV9-1 0 + 21812007 21812016 160,82,45 recombination_feature nonamer 6955|GeneID:6955 nonamer -chr14 21825318 21825338 promoter 0 + 21825318 21825338 0,128,128 promoter 28676|GeneID:28676 promoter -chr14 21825507 21825559 TRAV10 leader sequence 0 + 21825507 21825559 192,0,192 sequence_feature TRAV10 leader sequence 28676|GeneID:28676 TRAV10 leader sequence -chr14 21825784 21825795 TRAV10 leader sequence 0 + 21825784 21825795 192,0,192 sequence_feature TRAV10 leader sequence 28676|GeneID:28676 TRAV10 leader sequence -chr14 21826082 21826105 misc_recomb: TRAV10 0 + 21826082 21826105 160,82,45 recombination_feature spacer 28676|GeneID:28676 spacer -chr14 21826105 21826114 misc_recomb: TRAV10 0 + 21826105 21826114 160,82,45 recombination_feature nonamer 28676|GeneID:28676 nonamer -chr14 21829538 21829590 TRAV11 leader sequence 0 + 21829538 21829590 192,0,192 sequence_feature TRAV11 leader sequence 28675|GeneID:28675 TRAV11 leader sequence -chr14 21829783 21829794 TRAV11 leader sequence 0 + 21829783 21829794 192,0,192 sequence_feature TRAV11 leader sequence 28675|GeneID:28675 TRAV11 leader sequence -chr14 21830078 21830101 misc_recomb: TRAV11 0 + 21830078 21830101 160,82,45 recombination_feature spacer 28675|GeneID:28675 spacer -chr14 21830101 21830110 misc_recomb: TRAV11 0 + 21830101 21830110 160,82,45 recombination_feature nonamer 28675|GeneID:28675 nonamer -chr14 21840935 21840955 promoter 0 + 21840935 21840955 0,128,128 promoter 28674|GeneID:28674 promoter -chr14 21841242 21841291 TRAV12-1 leader sequence 0 + 21841242 21841291 192,0,192 sequence_feature TRAV12-1 leader sequence 28674|GeneID:28674 TRAV12-1 leader sequence -chr14 21841486 21841500 TRAV12-1 leader sequence 0 + 21841486 21841500 192,0,192 sequence_feature TRAV12-1 leader sequence 28674|GeneID:28674 TRAV12-1 leader sequence -chr14 21841781 21841804 misc_recomb: TRAV12-1 0 + 21841781 21841804 160,82,45 recombination_feature spacer 28674|GeneID:28674 spacer -chr14 21841804 21841813 misc_recomb: TRAV12-1 0 + 21841804 21841813 160,82,45 recombination_feature nonamer 28674|GeneID:28674 nonamer -chr14 21846453 21846473 promoter 0 + 21846453 21846473 0,128,128 promoter 28684|GeneID:28684 promoter -chr14 21846761 21846807 TRAV8-2 leader sequence 0 + 21846761 21846807 192,0,192 sequence_feature TRAV8-2 leader sequence 28684|GeneID:28684 TRAV8-2 leader sequence -chr14 21846926 21846937 TRAV8-2 leader sequence 0 + 21846926 21846937 192,0,192 sequence_feature TRAV8-2 leader sequence 28684|GeneID:28684 TRAV8-2 leader sequence -chr14 21847228 21847250 misc_recomb: TRAV8-2 0 + 21847228 21847250 160,82,45 recombination_feature spacer 28684|GeneID:28684 spacer -chr14 21847250 21847259 misc_recomb: TRAV8-2 0 + 21847250 21847259 160,82,45 recombination_feature nonamer 28684|GeneID:28684 nonamer -chr14 21852259 21852279 promoter 0 + 21852259 21852279 0,128,128 promoter 28683|GeneID:28683 promoter -chr14 21852557 21852603 TRAV8-3 leader sequence 0 + 21852557 21852603 192,0,192 sequence_feature TRAV8-3 leader sequence 28683|GeneID:28683 TRAV8-3 leader sequence -chr14 21852711 21852722 TRAV8-3 leader sequence 0 + 21852711 21852722 192,0,192 sequence_feature TRAV8-3 leader sequence 28683|GeneID:28683 TRAV8-3 leader sequence -chr14 21853013 21853036 misc_recomb: TRAV8-3 0 + 21853013 21853036 160,82,45 recombination_feature spacer 28683|GeneID:28683 spacer -chr14 21853036 21853045 misc_recomb: TRAV8-3 0 + 21853036 21853045 160,82,45 recombination_feature nonamer 28683|GeneID:28683 nonamer -chr14 21868632 21868652 promoter 0 + 21868632 21868652 0,128,128 promoter 28671|GeneID:28671 promoter -chr14 21868861 21868910 TRAV13-1 leader sequence 0 + 21868861 21868910 192,0,192 sequence_feature TRAV13-1 leader sequence 28671|GeneID:28671 TRAV13-1 leader sequence -chr14 21869077 21869085 TRAV13-1 leader sequence 0 + 21869077 21869085 192,0,192 sequence_feature TRAV13-1 leader sequence 28671|GeneID:28671 TRAV13-1 leader sequence -chr14 21869372 21869395 misc_recomb: TRAV13-1 0 + 21869372 21869395 160,82,45 recombination_feature spacer 28671|GeneID:28671 spacer -chr14 21869395 21869404 misc_recomb: TRAV13-1 0 + 21869395 21869404 160,82,45 recombination_feature nonamer 28671|GeneID:28671 nonamer -chr14 21887659 21887679 promoter 0 + 21887659 21887679 0,128,128 promoter 28673|GeneID:28673 promoter -chr14 21887958 21888010 TRAV12-2 leader sequence 0 + 21887958 21888010 192,0,192 sequence_feature TRAV12-2 leader sequence 28673|GeneID:28673 TRAV12-2 leader sequence -chr14 21888211 21888225 TRAV12-2 leader sequence 0 + 21888211 21888225 192,0,192 sequence_feature TRAV12-2 leader sequence 28673|GeneID:28673 TRAV12-2 leader sequence -chr14 21888509 21888532 misc_recomb: TRAV12-2 0 + 21888509 21888532 160,82,45 recombination_feature spacer 28673|GeneID:28673 spacer -chr14 21888532 21888541 misc_recomb: TRAV12-2 0 + 21888532 21888541 160,82,45 recombination_feature nonamer 28673|GeneID:28673 nonamer -chr14 21894246 21894266 promoter 0 + 21894246 21894266 0,128,128 promoter 28682|GeneID:28682 promoter -chr14 21894560 21894606 TRAV8-4 leader sequence 0 + 21894560 21894606 192,0,192 sequence_feature TRAV8-4 leader sequence 28682|GeneID:28682 TRAV8-4 leader sequence -chr14 21894735 21894746 TRAV8-4 leader sequence 0 + 21894735 21894746 192,0,192 sequence_feature TRAV8-4 leader sequence 28682|GeneID:28682 TRAV8-4 leader sequence -chr14 21895037 21895059 misc_recomb: TRAV8-4 0 + 21895037 21895059 160,82,45 recombination_feature spacer 28682|GeneID:28682 spacer -chr14 21895059 21895068 misc_recomb: TRAV8-4 0 + 21895059 21895068 160,82,45 recombination_feature nonamer 28682|GeneID:28682 nonamer -chr14 21902779 21902799 promoter 0 + 21902779 21902799 0,128,128 promoter 28681|GeneID:28681 promoter -chr14 21903076 21903126 TRAV8-5 leader sequence 0 + 21903076 21903126 192,0,192 sequence_feature TRAV8-5 leader sequence 28681|GeneID:28681 TRAV8-5 leader sequence -chr14 21903230 21903241 TRAV8-5 leader sequence 0 + 21903230 21903241 192,0,192 sequence_feature TRAV8-5 leader sequence 28681|GeneID:28681 TRAV8-5 leader sequence -chr14 21904605 21904627 misc_recomb: TRAV8-5 0 + 21904605 21904627 160,82,45 recombination_feature spacer 28681|GeneID:28681 spacer -chr14 21904627 21904636 misc_recomb: TRAV8-5 0 + 21904627 21904636 160,82,45 recombination_feature nonamer 28681|GeneID:28681 nonamer -chr14 21918025 21918045 promoter 0 + 21918025 21918045 0,128,128 promoter 28670|GeneID:28670 promoter -chr14 21918257 21918306 TRAV13-2 leader sequence 0 + 21918257 21918306 192,0,192 sequence_feature TRAV13-2 leader sequence 28670|GeneID:28670 TRAV13-2 leader sequence -chr14 21918465 21918476 TRAV13-2 leader sequence 0 + 21918465 21918476 192,0,192 sequence_feature TRAV13-2 leader sequence 28670|GeneID:28670 TRAV13-2 leader sequence -chr14 21918763 21918786 misc_recomb: TRAV13-2 0 + 21918763 21918786 160,82,45 recombination_feature spacer 28670|GeneID:28670 spacer -chr14 21918786 21918795 misc_recomb: TRAV13-2 0 + 21918786 21918795 160,82,45 recombination_feature nonamer 28670|GeneID:28670 nonamer -chr14 21924137 21924186 TRAV14DV4 leader sequence 0 + 21924137 21924186 192,0,192 sequence_feature TRAV14DV4 leader sequence 28669|GeneID:28669 TRAV14DV4 leader sequence -chr14 21924350 21924361 TRAV14DV4 leader sequence 0 + 21924350 21924361 192,0,192 sequence_feature TRAV14DV4 leader sequence 28669|GeneID:28669 TRAV14DV4 leader sequence -chr14 21924658 21924681 misc_recomb: TRAV14DV4 0 + 21924658 21924681 160,82,45 recombination_feature spacer 28669|GeneID:28669 spacer -chr14 21924681 21924690 misc_recomb: TRAV14D4 0 + 21924681 21924690 160,82,45 recombination_feature nonamer 28669|GeneID:28669 nonamer -chr14 21941070 21941090 promoter 0 + 21941070 21941090 0,128,128 promoter 28677|GeneID:28677 promoter -chr14 21941183 21941229 TRAV9-2 leader sequence 0 + 21941183 21941229 192,0,192 sequence_feature TRAV9-2 leader sequence 28677|GeneID:28677 TRAV9-2 leader sequence -chr14 21941365 21941376 TRAV9-2 leader sequence 0 + 21941365 21941376 192,0,192 sequence_feature TRAV9-2 leader sequence 28677|GeneID:28677 TRAV9-2 leader sequence -chr14 21941664 21941687 misc_recomb: TRAV9-2 0 + 21941664 21941687 160,82,45 recombination_feature spacer 28677|GeneID:28677 spacer -chr14 21941687 21941696 misc_recomb: TRAV9-2 0 + 21941687 21941696 160,82,45 recombination_feature nonamer 28677|GeneID:28677 nonamer -chr14 21950661 21950683 misc_recomb: TRAV15 0 + 21950661 21950683 160,82,45 recombination_feature spacer 28668|GeneID:28668 spacer -chr14 21950683 21950692 misc_recomb: TRAV15 0 + 21950683 21950692 160,82,45 recombination_feature nonamer 28668|GeneID:28668 nonamer -chr14 21965203 21965223 promoter 0 + 21965203 21965223 0,128,128 promoter 28672|GeneID:28672 promoter -chr14 21965506 21965558 TRAV12-3 leader sequence 0 + 21965506 21965558 192,0,192 sequence_feature TRAV12-3 leader sequence 28672|GeneID:28672 TRAV12-3 leader sequence -chr14 21965770 21965784 TRAV12-3 leader sequence 0 + 21965770 21965784 192,0,192 sequence_feature TRAV12-3 leader sequence 28672|GeneID:28672 TRAV12-3 leader sequence -chr14 21966068 21966091 misc_recomb: TRAV12-3 0 + 21966068 21966091 160,82,45 recombination_feature spacer 28672|GeneID:28672 spacer -chr14 21966091 21966100 misc_recomb: TRAV12-3 0 + 21966091 21966100 160,82,45 recombination_feature nonamer 28672|GeneID:28672 nonamer -chr14 21978368 21978388 promoter 0 + 21978368 21978388 0,128,128 promoter 28680|GeneID:28680 promoter -chr14 21978678 21978724 TRAV8-6 leader sequence 0 + 21978678 21978724 192,0,192 sequence_feature TRAV8-6 leader sequence 28680|GeneID:28680 TRAV8-6 leader sequence -chr14 21978825 21979836 TRAV8-6 leader sequence 0 + 21978825 21979836 192,0,192 sequence_feature TRAV8-6 leader sequence 28680|GeneID:28680 TRAV8-6 leader sequence -chr14 21979127 21979149 misc_recomb: TRAV8-6 0 + 21979127 21979149 160,82,45 recombination_feature spacer 28680|GeneID:28680 spacer -chr14 21979149 21979158 misc_recomb: TRAV8-6 0 + 21979149 21979158 160,82,45 recombination_feature nonamer 28680|GeneID:28680 nonamer -chr14 21990308 21990328 promoter 0 + 21990308 21990328 0,128,128 promoter 28667|GeneID:28667 promoter -chr14 21990495 21990541 TRAV16 leader sequence 0 + 21990495 21990541 192,0,192 sequence_feature TRAV16 leader sequence 28667|GeneID:28667 TRAV16 leader sequence -chr14 21990655 21990666 TRAV16 leader sequence 0 + 21990655 21990666 192,0,192 sequence_feature TRAV16 leader sequence 28667|GeneID:28667 TRAV16 leader sequence -chr14 21990945 21990967 misc_recomb: TRAV16 0 + 21990945 21990967 160,82,45 recombination_feature spacer 28667|GeneID:28667 spacer -chr14 21990967 21990976 misc_recomb: TRAV16 0 + 21990967 21990976 160,82,45 recombination_feature nonamer 28667|GeneID:28667 nonamer -chr14 21997466 21997486 promoter 0 + 21997466 21997486 0,128,128 promoter 28666|GeneID:28666 promoter -chr14 21997685 21997737 TRAV17 leader sequence 0 + 21997685 21997737 192,0,192 sequence_feature TRAV17 leader sequence 28666|GeneID:28666 TRAV17 leader sequence -chr14 21997883 21997891 TRAV17 leader sequence 0 + 21997883 21997891 192,0,192 sequence_feature TRAV17 leader sequence 28666|GeneID:28666 TRAV17 leader sequence -chr14 21998175 21998198 misc_recomb: TRAV17 0 + 21998175 21998198 160,82,45 recombination_feature spacer 28666|GeneID:28666 spacer -chr14 21998198 21998207 misc_recomb: TRAV17 0 + 21998198 21998207 160,82,45 recombination_feature nonamer 28666|GeneID:28666 nonamer -chr14 22002972 22002992 promoter 0 + 22002972 22002992 0,128,128 promoter 28665|GeneID:28665 promoter -chr14 22003210 22003256 TRAV18 leader sequence 0 + 22003210 22003256 192,0,192 sequence_feature TRAV18 leader sequence 28665|GeneID:28665 TRAV18 leader sequence -chr14 22003384 22003395 TRAV18 leader sequence 0 + 22003384 22003395 192,0,192 sequence_feature TRAV18 leader sequence 28665|GeneID:28665 TRAV18 leader sequence -chr14 22003680 22003703 misc_recomb: TRAV18 0 + 22003680 22003703 160,82,45 recombination_feature spacer 28665|GeneID:28665 spacer -chr14 22003703 22003712 misc_recomb: TRAV18 0 + 22003703 22003712 160,82,45 recombination_feature nonamer 28665|GeneID:28665 nonamer -chr14 22007546 22007566 promoter 0 + 22007546 22007566 0,128,128 promoter 28664|GeneID:28664 promoter -chr14 22007628 22007677 TRAV19 leader sequence 0 + 22007628 22007677 192,0,192 sequence_feature TRAV19 leader sequence 28664|GeneID:28664 TRAV19 leader sequence -chr14 22007880 22007891 TRAV19 leader sequence 0 + 22007880 22007891 192,0,192 sequence_feature TRAV19 leader sequence 28664|GeneID:28664 TRAV19 leader sequence -chr14 22008188 22008211 misc_recomb: TRAV19 0 + 22008188 22008211 160,82,45 recombination_feature spacer 28664|GeneID:28664 spacer -chr14 22008211 22008220 misc_recomb: TRAV19 0 + 22008211 22008220 160,82,45 recombination_feature nonamer 28664|GeneID:28664 nonamer -chr14 22040447 22040467 promoter 0 + 22040447 22040467 0,128,128 promoter 28663|GeneID:28663 promoter -chr14 22040662 22040714 TRAV20 leader sequence 0 + 22040662 22040714 192,0,192 sequence_feature TRAV20 leader sequence 28663|GeneID:28663 TRAV20 leader sequence -chr14 22040868 22040879 TRAV20 leader sequence 0 + 22040868 22040879 192,0,192 sequence_feature TRAV20 leader sequence 28663|GeneID:28663 TRAV20 leader sequence -chr14 22041160 22041183 misc_recomb: TRAV20 0 + 22041160 22041183 160,82,45 recombination_feature spacer 28663|GeneID:28663 spacer -chr14 22041183 22041192 misc_recomb: TRAV20 0 + 22041183 22041192 160,82,45 recombination_feature nonamer 28663|GeneID:28663 nonamer -chr14 22052520 22052566 TRAV21 leader sequence 0 + 22052520 22052566 192,0,192 sequence_feature TRAV21 leader sequence 28662|GeneID:28662 TRAV21 leader sequence -chr14 22052766 22053056 TRAV21 leader sequence 0 + 22052766 22053056 192,0,192 sequence_feature TRAV21 leader sequence 28662|GeneID:28662 TRAV21 leader sequence -chr14 22053063 22053086 misc_recomb: TRAV21 0 + 22053063 22053086 160,82,45 recombination_feature spacer 28662|GeneID:28662 spacer -chr14 22053086 22053095 misc_recomb: TRAV21 0 + 22053086 22053095 160,82,45 recombination_feature nonamer 28662|GeneID:28662 nonamer -chr14 22070689 22070741 TRAV22 leader sequence 0 + 22070689 22070741 192,0,192 sequence_feature TRAV22 leader sequence 28661|GeneID:28661 TRAV22 leader sequence -chr14 22070929 22070937 TRAV22 leader sequence 0 + 22070929 22070937 192,0,192 sequence_feature TRAV22 leader sequence 28661|GeneID:28661 TRAV22 leader sequence -chr14 22071215 22071238 misc_recomb: TRAV22 0 + 22071215 22071238 160,82,45 recombination_feature spacer 28661|GeneID:28661 spacer -chr14 22071238 22071247 misc_recomb: TRAV22 0 + 22071238 22071247 160,82,45 recombination_feature nonamer 28661|GeneID:28661 nonamer -chr14 22086282 22086302 promoter 0 + 22086282 22086302 0,128,128 promoter 28660|GeneID:28660 promoter -chr14 22086451 22086503 TRAV23DV6 leader sequence 0 + 22086451 22086503 192,0,192 sequence_feature TRAV23DV6 leader sequence 28660|GeneID:28660 TRAV23DV6 leader sequence -chr14 22086649 22086657 TRAV23DV6 leader sequence 0 + 22086649 22086657 192,0,192 sequence_feature TRAV23DV6 leader sequence 28660|GeneID:28660 TRAV23DV6 leader sequence -chr14 22086968 22086991 misc_recomb: TRAV23DV6 0 + 22086968 22086991 160,82,45 recombination_feature spacer 28660|GeneID:28660 spacer -chr14 22086991 22087000 misc_recomb: TRAV23DV6 0 + 22086991 22087000 160,82,45 recombination_feature nonamer 28660|GeneID:28660 nonamer -chr14 22096049 22096098 TRDV1 leader sequence 0 + 22096049 22096098 192,0,192 sequence_feature TRDV1 leader sequence 28518|GeneID:28518 TRDV1 leader sequence -chr14 22096321 22096332 TRDV1 leader sequence 0 + 22096321 22096332 192,0,192 sequence_feature TRDV1 leader sequence 28518|GeneID:28518 TRDV1 leader sequence -chr14 22096626 22096649 misc_recomb: TRDV1 0 + 22096626 22096649 160,82,45 recombination_feature spacer 28518|GeneID:28518 spacer -chr14 22096649 22096658 misc_recomb: TRDV1 0 + 22096649 22096658 160,82,45 recombination_feature nonamer 28518|GeneID:28518 nonamer -chr14 22105189 22105209 promoter 0 + 22105189 22105209 0,128,128 promoter 28659|GeneID:28659 promoter -chr14 22105342 22105397 TRAV24 leader sequence 0 + 22105342 22105397 192,0,192 sequence_feature TRAV24 leader sequence 28659|GeneID:28659 TRAV24 leader sequence -chr14 22105558 22105569 TRAV24 leader sequence 0 + 22105558 22105569 192,0,192 sequence_feature TRAV24 leader sequence 28659|GeneID:28659 TRAV24 leader sequence -chr14 22105853 22105876 misc_recomb: TRAV24 0 + 22105853 22105876 160,82,45 recombination_feature spacer 28659|GeneID:28659 spacer -chr14 22105876 22105885 misc_recomb: TRAV24 0 + 22105876 22105885 160,82,45 recombination_feature nonamer 28659|GeneID:28659 nonamer -chr14 22112206 22112226 promoter 0 + 22112206 22112226 0,128,128 promoter 28658|GeneID:28658 promoter -chr14 22112422 22112468 TRAV25 leader sequence 0 + 22112422 22112468 192,0,192 sequence_feature TRAV25 leader sequence 28658|GeneID:28658 TRAV25 leader sequence -chr14 22112750 22112758 TRAV25 leader sequence 0 + 22112750 22112758 192,0,192 sequence_feature TRAV25 leader sequence 28658|GeneID:28658 TRAV25 leader sequence -chr14 22113038 22113061 misc_recomb: TRAV25 0 + 22113038 22113061 160,82,45 recombination_feature spacer 28658|GeneID:28658 spacer -chr14 22113061 22113070 misc_recomb: TRAV25 0 + 22113061 22113070 160,82,45 recombination_feature nonamer 6955|GeneID:6955 nonamer -chr14 22123526 22123566 TRAV26-1 leader sequence 0 + 22123526 22123566 192,0,192 sequence_feature TRAV26-1 leader sequence 28657|GeneID:28657 TRAV26-1 leader sequence -chr14 22123997 22124008 TRAV26-1 leader sequence 0 + 22123997 22124008 192,0,192 sequence_feature TRAV26-1 leader sequence 28657|GeneID:28657 TRAV26-1 leader sequence -chr14 22124292 22124315 misc_recomb: TRAV26-1 0 + 22124292 22124315 160,82,45 recombination_feature spacer 28657|GeneID:28657 spacer -chr14 22124315 22124324 misc_recomb: TRAV26-1 0 + 22124315 22124324 160,82,45 recombination_feature nonamer 28657|GeneID:28657 nonamer -chr14 22132259 22132278 promoter 0 + 22132259 22132278 0,128,128 promoter 28679|GeneID:28679 promoter -chr14 22132552 22132598 TRAV8-7 leader sequence 0 + 22132552 22132598 192,0,192 sequence_feature TRAV8-7 leader sequence 28679|GeneID:28679 TRAV8-7 leader sequence -chr14 22132736 22132744 TRAV8-7 leader sequence 0 + 22132736 22132744 192,0,192 sequence_feature TRAV8-7 leader sequence 28679|GeneID:28679 TRAV8-7 leader sequence -chr14 22133041 22133064 misc_recomb: TRAV8-7 0 + 22133041 22133064 160,82,45 recombination_feature spacer 28679|GeneID:28679 spacer -chr14 22133064 22133073 misc_recomb: TRAV8-7 0 + 22133064 22133073 160,82,45 recombination_feature nonamer 28679|GeneID:28679 nonamer -chr14 22147861 22147881 promoter 0 + 22147861 22147881 0,128,128 promoter 28655|GeneID:28655 promoter -chr14 22148091 22148633 TRAV27 leader sequence 0 + 22148091 22148633 192,0,192 sequence_feature TRAV27 leader sequence 28655|GeneID:28655 TRAV27 leader sequence -chr14 22148640 22148663 misc_recomb: TRAV27 0 + 22148640 22148663 160,82,45 recombination_feature spacer 28655|GeneID:28655 spacer -chr14 22148663 22148672 misc_recomb: TRAV27 0 + 22148663 22148672 160,82,45 recombination_feature nonamer 28655|GeneID:28655 nonamer -chr14 22154887 22154907 promoter 0 + 22154887 22154907 0,128,128 promoter 28654|GeneID:28654 promoter -chr14 22155078 22155130 TRAV28 leader sequence 0 + 22155078 22155130 192,0,192 sequence_feature TRAV28 leader sequence 28654|GeneID:28654 TRAV28 leader sequence -chr14 22155367 22155375 TRAV28 leader sequence 0 + 22155367 22155375 192,0,192 sequence_feature TRAV28 leader sequence 28654|GeneID:28654 TRAV28 leader sequence -chr14 22155645 22155668 misc_recomb: TRAV28 0 + 22155645 22155668 160,82,45 recombination_feature spacer 28654|GeneID:28654 spacer -chr14 22155668 22155677 misc_recomb: TRAV28 0 + 22155668 22155677 160,82,45 recombination_feature nonamer 28654|GeneID:28654 nonamer -chr14 22163173 22163193 promoter 0 + 22163173 22163193 0,128,128 promoter 28653|GeneID:28653 promoter -chr14 22163348 22163400 TRAV29DV5 leader sequence 0 + 22163348 22163400 192,0,192 sequence_feature TRAV29DV5 leader sequence 28653|GeneID:28653 TRAV29DV5 leader sequence -chr14 22163564 22163572 TRAV29DV5 leader sequence 0 + 22163564 22163572 192,0,192 sequence_feature TRAV29DV5 leader sequence 28653|GeneID:28653 TRAV29DV5 leader sequence -chr14 22163877 22163900 misc_recomb: TRAV29DV5 0 + 22163877 22163900 160,82,45 recombination_feature spacer 28653|GeneID:28653 spacer -chr14 22163900 22163909 misc_recomb: TRAV29DV5 0 + 22163900 22163909 160,82,45 recombination_feature nonamer 28653|GeneID:28653 nonamer -chr14 22168224 22168244 promoter 0 + 22168224 22168244 0,128,128 promoter 28652|GeneID:28652 promoter -chr14 22168428 22168480 TRAV30 leader sequence 0 + 22168428 22168480 192,0,192 sequence_feature TRAV30 leader sequence 28652|GeneID:28652 TRAV30 leader sequence -chr14 22168703 22168714 TRAV30 leader sequence 0 + 22168703 22168714 192,0,192 sequence_feature TRAV30 leader sequence 28652|GeneID:28652 TRAV30 leader sequence -chr14 22168995 22169018 misc_recomb: TRAV30 0 + 22168995 22169018 160,82,45 recombination_feature spacer 28652|GeneID:28652 spacer -chr14 22169018 22169027 misc_recomb: TRAV30 0 + 22169018 22169027 160,82,45 recombination_feature nonamer 28652|GeneID:28652 nonamer -chr14 22177871 22177893 misc_recomb: TRAV31 0 + 22177871 22177893 160,82,45 recombination_feature spacer 28651|GeneID:28651 spacer -chr14 22177893 22177902 misc_recomb: TRAV31 0 + 22177893 22177902 160,82,45 recombination_feature nonamer 28651|GeneID:28651 nonamer -chr14 22185388 22185408 promoter 0 + 22185388 22185408 0,128,128 promoter 28650|GeneID:28650 promoter -chr14 22185561 22185615 TRAV32 leader sequence 0 + 22185561 22185615 192,0,192 sequence_feature TRAV32 leader sequence 28650|GeneID:28650 TRAV32 leader sequence -chr14 22185771 22185781 TRAV32 leader sequence 0 + 22185771 22185781 192,0,192 sequence_feature TRAV32 leader sequence 28650|GeneID:28650 TRAV32 leader sequence -chr14 22186064 22186087 misc_recomb: TRAV32 0 + 22186064 22186087 160,82,45 recombination_feature spacer 28650|GeneID:28650 spacer -chr14 22186087 22186096 misc_recomb: TRAV32 0 + 22186087 22186096 160,82,45 recombination_feature nonamer 28650|GeneID:28650 nonamer -chr14 22190157 22190206 TRAV33 leader sequence 0 + 22190157 22190206 192,0,192 sequence_feature TRAV33 leader sequence 28649|GeneID:28649 TRAV33 leader sequence -chr14 22190424 22190435 TRAV33 leader sequence 0 + 22190424 22190435 192,0,192 sequence_feature TRAV33 leader sequence 28649|GeneID:28649 TRAV33 leader sequence -chr14 22190720 22190743 misc_recomb: TRAV33 0 + 22190720 22190743 160,82,45 recombination_feature spacer 28649|GeneID:28649 spacer -chr14 22190743 22190752 misc_recomb: TRAV33 0 + 22190743 22190752 160,82,45 recombination_feature nonamer 28649|GeneID:28649 nonamer -chr14 22202469 22202489 promoter 0 + 22202469 22202489 0,128,128 promoter 28656|GeneID:28656 promoter -chr14 22202582 22202622 TRAV26-2 leader sequence 0 + 22202582 22202622 192,0,192 sequence_feature TRAV26-2 leader sequence 28656|GeneID:28656 TRAV26-2 leader sequence -chr14 22203081 22203092 TRAV26-2 leader sequence 0 + 22203081 22203092 192,0,192 sequence_feature TRAV26-2 leader sequence 28656|GeneID:28656 TRAV26-2 leader sequence -chr14 22203375 22203398 misc_recomb: TRAV26-2 0 + 22203375 22203398 160,82,45 recombination_feature spacer 28656|GeneID:28656 spacer -chr14 22203398 22203407 misc_recomb: TRAV26-2 0 + 22203398 22203407 160,82,45 recombination_feature nonamer 28656|GeneID:28656 nonamer -chr14 22207355 22207375 promoter 0 + 22207355 22207375 0,128,128 promoter 28648|GeneID:28648 promoter -chr14 22207533 22207585 TRAV34 leader sequence 0 + 22207533 22207585 192,0,192 sequence_feature TRAV34 leader sequence 28648|GeneID:28648 TRAV34 leader sequence -chr14 22207844 22207852 TRAV34 leader sequence 0 + 22207844 22207852 192,0,192 sequence_feature TRAV34 leader sequence 28648|GeneID:28648 TRAV34 leader sequence -chr14 22208136 22208159 misc_recomb: TRAV34 0 + 22208136 22208159 160,82,45 recombination_feature spacer 28648|GeneID:28648 spacer -chr14 22208159 22208168 misc_recomb: TRAV34 0 + 22208159 22208168 160,82,45 recombination_feature nonamer 28648|GeneID:28648 nonamer -chr14 22221676 22221696 promoter 0 + 22221676 22221696 0,128,128 promoter 28647|GeneID:28647 promoter -chr14 22221895 22221941 TRAV35 leader sequence 0 + 22221895 22221941 192,0,192 sequence_feature TRAV35 leader sequence 28647|GeneID:28647 TRAV35 leader sequence -chr14 22222191 22222199 TRAV35 leader sequence 0 + 22222191 22222199 192,0,192 sequence_feature TRAV35 leader sequence 28647|GeneID:28647 TRAV35 leader sequence -chr14 22222482 22222505 misc_recomb: TRAV35 0 + 22222482 22222505 160,82,45 recombination_feature spacer 28647|GeneID:28647 spacer -chr14 22222505 22222514 misc_recomb: TRAV35 0 + 22222505 22222514 160,82,45 recombination_feature nonamer 28647|GeneID:28647 nonamer -chr14 22226470 22226490 promoter 0 + 22226470 22226490 0,128,128 promoter 28646|GeneID:28646 promoter -chr14 22226761 22226813 TRAV36DV7 leader sequence 0 + 22226761 22226813 192,0,192 sequence_feature TRAV36DV7 leader sequence 28646|GeneID:28646 TRAV36DV7 leader sequence -chr14 22226966 22226977 TRAV36DV7 leader sequence 0 + 22226966 22226977 192,0,192 sequence_feature TRAV36DV7 leader sequence 28646|GeneID:28646 TRAV36DV7 leader sequence -chr14 22227261 22227284 misc_recomb: TRAV36DV7 0 + 22227261 22227284 160,82,45 recombination_feature spacer 28646|GeneID:28646 spacer -chr14 22227284 22227293 misc_recomb: TRAV36DV7 0 + 22227284 22227293 160,82,45 recombination_feature nonamer 28646|GeneID:28646 nonamer -chr14 22265488 22265508 promoter 0 + 22265488 22265508 0,128,128 promoter 28645|GeneID:28645 promoter -chr14 22265748 22265800 TRAV37 leader sequence 0 + 22265748 22265800 192,0,192 sequence_feature TRAV37 leader sequence 28645|GeneID:28645 TRAV37 leader sequence -chr14 22265974 22265985 TRAV37 leader sequence 0 + 22265974 22265985 192,0,192 sequence_feature TRAV37 leader sequence 28645|GeneID:28645 TRAV37 leader sequence -chr14 22266271 22266293 misc_recomb: TRAV37 0 + 22266271 22266293 160,82,45 recombination_feature spacer 28645|GeneID:28645 spacer -chr14 22266293 22266302 misc_recomb: TRAV37 0 + 22266293 22266302 160,82,45 recombination_feature nonamer 28645|GeneID:28645 nonamer -chr14 22271970 22272019 TRAV38-1 leader sequence 0 + 22271970 22272019 192,0,192 sequence_feature TRAV38-1 leader sequence 28644|GeneID:28644 TRAV38-1 leader sequence -chr14 22272262 22272273 TRAV38-1 leader sequence 0 + 22272262 22272273 192,0,192 sequence_feature TRAV38-1 leader sequence 28644|GeneID:28644 TRAV38-1 leader sequence -chr14 22272570 22272593 misc_recomb: TRAV38-1 0 + 22272570 22272593 160,82,45 recombination_feature spacer 28644|GeneID:28644 spacer -chr14 22272593 22272602 misc_recomb: TRAV38-1 0 + 22272593 22272602 160,82,45 recombination_feature nonamer 6955|GeneID:6955 nonamer -chr14 22281150 22281199 TRAV38-2DV8 leader sequence 0 + 22281150 22281199 192,0,192 sequence_feature TRAV38-2DV8 leader sequence 28643|GeneID:28643 TRAV38-2DV8 leader sequence -chr14 22281448 22281459 TRAV38-2DV8 leader sequence 0 + 22281448 22281459 192,0,192 sequence_feature TRAV38-2DV8 leader sequence 28643|GeneID:28643 TRAV38-2DV8 leader sequence -chr14 22281755 22281778 misc_recomb: TRAV38-2DV8 0 + 22281755 22281778 160,82,45 recombination_feature spacer 28643|GeneID:28643 spacer -chr14 22281778 22281787 misc_recomb: TRAV38-2DV8 0 + 22281778 22281787 160,82,45 recombination_feature nonamer 28643|GeneID:28643 nonamer -chr14 22303775 22303795 promoter 0 + 22303775 22303795 0,128,128 promoter 28642|GeneID:28642 promoter -chr14 22304053 22304096 TRAV39 leader sequence 0 + 22304053 22304096 192,0,192 sequence_feature TRAV39 leader sequence 28642|GeneID:28642 TRAV39 leader sequence -chr14 22304265 22304276 TRAV39 leader sequence 0 + 22304265 22304276 192,0,192 sequence_feature TRAV39 leader sequence 28642|GeneID:28642 TRAV39 leader sequence -chr14 22304560 22304583 misc_recomb: TRAV39 0 + 22304560 22304583 160,82,45 recombination_feature spacer 28642|GeneID:28642 spacer -chr14 22304583 22304592 misc_recomb: TRAV39 0 + 22304583 22304592 160,82,45 recombination_feature nonamer 28642|GeneID:28642 nonamer -chr14 22314376 22314396 promoter 0 + 22314376 22314396 0,128,128 promoter 28641|GeneID:28641 promoter -chr14 22314489 22314532 TRAV40 leader sequence 0 + 22314489 22314532 192,0,192 sequence_feature TRAV40 leader sequence 28641|GeneID:28641 TRAV40 leader sequence -chr14 22314645 22314656 TRAV40 leader sequence 0 + 22314645 22314656 192,0,192 sequence_feature TRAV40 leader sequence 28641|GeneID:28641 TRAV40 leader sequence -chr14 22314926 22314948 misc_recomb: TRAV40 0 + 22314926 22314948 160,82,45 recombination_feature spacer 28641|GeneID:28641 spacer -chr14 22314948 22314957 misc_recomb: TRAV40 0 + 22314948 22314957 160,82,45 recombination_feature nonamer 28641|GeneID:28641 nonamer -chr14 22319956 22319976 promoter 0 + 22319956 22319976 0,128,128 promoter 28640|GeneID:28640 promoter -chr14 22320187 22320239 TRAV41 leader sequence 0 + 22320187 22320239 192,0,192 sequence_feature TRAV41 leader sequence 28640|GeneID:28640 TRAV41 leader sequence -chr14 22320407 22320421 TRAV41 leader sequence 0 + 22320407 22320421 192,0,192 sequence_feature TRAV41 leader sequence 28640|GeneID:28640 TRAV41 leader sequence -chr14 22320698 22320721 misc_recomb: TRAV41 0 + 22320698 22320721 160,82,45 recombination_feature spacer 28640|GeneID:28640 spacer -chr14 22320721 22320730 misc_recomb: TRAV41 0 + 22320721 22320730 160,82,45 recombination_feature nonamer 28640|GeneID:28640 nonamer -chr14 22422545 22422591 TRDV2 leader sequence 0 + 22422545 22422591 192,0,192 sequence_feature TRDV2 leader sequence 28517|GeneID:28517 TRDV2 leader sequence -chr14 22422743 22422754 TRDV2 leader sequence 0 + 22422743 22422754 192,0,192 sequence_feature TRDV2 leader sequence 28517|GeneID:28517 TRDV2 leader sequence -chr14 22423049 22423072 misc_recomb: TRDV2 0 + 22423049 22423072 160,82,45 recombination_feature spacer 28517|GeneID:28517 spacer -chr14 22423072 22423081 misc_recomb: TRDV2 0 + 22423072 22423081 160,82,45 recombination_feature nonamer 28517|GeneID:28517 nonamer -chr14 22469001 22469010 misc_recomb: TRDV3 0 - 22469001 22469010 160,82,45 recombination_feature nonamer 105370401|GeneID:105370401 nonamer -chr14 22469010 22469033 misc_recomb: TRDV3 0 - 22469010 22469033 160,82,45 recombination_feature spacer 105370401|GeneID:105370401 spacer -chr14 22469033 22469040 misc_recomb: TRDV3 0 - 22469033 22469040 160,82,45 recombination_feature heptamer 105370401|GeneID:105370401 heptamer -chr14 23437377 23439005 enhancer 0 + 23437377 23439005 0,128,128 enhancer VISTA enhancer hs1670 110121424|GeneID:110121424 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[7/9] | heart[9/9] | other[8/9] VISTA enhancer hs1670 | enhancer in: branchial arch[7/9] | heart[9/9] | other[8/9] -chr14 23442403 23443714 enhancer 0 + 23442403 23443714 0,128,128 enhancer VISTA enhancer hs2330 110121504|GeneID:110121504 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[11/14] VISTA enhancer hs2330 | enhancer in: heart[11/14] -chr14 24262351 24264105 promoter 0 + 24262351 24264105 0,128,128 promoter K3 region from +831 to -923 relative to transcription start site asserted in PMID:10321835 107882126|GeneID:107882126 10321835|PMID:10321835 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10321835] responds to negative regulation by retinoic acid and calcium K3 region from +831 to -923 relative to transcription start site asserted in PMID:10321835 | responds to negative regulation by retinoic acid and calcium -chr14 24262351 24265352 promoter 0 + 24262351 24265352 0,128,128 promoter 3 kb fragment from +831 to -2170 relative to transcription start site asserted in PMID:10321835 107882126|GeneID:107882126 10321835|PMID:10321835 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10321835] 3 kb fragment from +831 to -2170 relative to transcription start site asserted in PMID:10321835 -chr14 24262359 24262555 promoter 0 + 24262359 24262555 0,128,128 promoter p194 fragment from +628 to +822 relative to transcription start site asserted in PMID:10321835; P2 promoter 107882126|GeneID:107882126 10321835|PMID:10321835 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10321835] responds to positive regulation by retinoic acid in HaCaT cells p194 fragment from +628 to +822 relative to transcription start site asserted in PMID:10321835; P2 promoter | responds to positive regulation by retinoic acid in HaCaT cells -chr14 24263115 24264782 promoter 0 + 24263115 24264782 0,128,128 promoter 1.6 kb fragment from +67 to -1600 relative to transcription start site asserted in PMID:10321835 107882126|GeneID:107882126 10321835|PMID:10321835,15061870|PMID:15061870 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:15061870] drives expression in epithelia 1.6 kb fragment from +67 to -1600 relative to transcription start site asserted in PMID:10321835 | drives expression in epithelia -chr14 24263164 24265682 promoter 0 + 24263164 24265682 0,128,128 promoter 2.5 kb fragment from +18 to -2500 relative to transcription start site asserted in PMID:10321835 107882126|GeneID:107882126 9361026|PMID:9361026,10321835|PMID:10321835 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9361026] responds to phorbol ester and drives expression in epithelia 2.5 kb fragment from +18 to -2500 relative to transcription start site asserted in PMID:10321835 | responds to phorbol ester and drives expression in epithelia -chr14 24263253 24263279 protein_bind: Sp1 transcription factor 0 + 24263253 24263279 192,0,0 protein_binding_site 107882126|GeneID:107882126 10886517|PMID:10886517 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10886517] protein_binding_site | Sp1 transcription factor -chr14 24263635 24263653 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 24263635 24263653 192,0,0 protein_binding_site CRE 107882126|GeneID:107882126 10974538|PMID:10974538 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10974538] CRE | Jun proto-oncogene, AP-1 transcription factor subunit -chr14 24263635 24263653 protein_bind: JunD proto-oncogene, AP-1 transcription factor subunit 0 + 24263635 24263653 192,0,0 protein_binding_site CRE 107882126|GeneID:107882126 10974538|PMID:10974538 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10974538] CRE | JunD proto-oncogene, AP-1 transcription factor subunit -chr14 24263642 24263666 protein_bind: transcription factor AP-2 alpha and gamma 0 + 24263642 24263666 192,0,0 protein_binding_site 107882126|GeneID:107882126 12192491|PMID:12192491 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12192491] protein_binding_site | transcription factor AP-2 alpha and gamma -chr14 24263651 24263660 enhancer 0 + 24263651 24263660 0,128,128 enhancer site II 107882126|GeneID:107882126 8537408|PMID:8537408 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8537408] promotes gene expression on basal promoter site II | promotes gene expression on basal promoter -chr14 24264550 24264576 protein_bind: Sp1 and Sp3 transcription factors 0 + 24264550 24264576 192,0,0 protein_binding_site TG-G 107882126|GeneID:107882126 15061870|PMID:15061870 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15061870] promotes gene expression TG-G | promotes gene expression | Sp1 and Sp3 transcription factors -chr14 24264662 24264691 protein_bind: Sp1 and Sp3 transcription factors 0 + 24264662 24264691 192,0,0 protein_binding_site TG-A 107882126|GeneID:107882126 15061870|PMID:15061870 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15061870] TG-A | Sp1 and Sp3 transcription factors -chr14 24264682 24264703 protein_bind: FOS like 1, AP-1 trancription factor subunit 0 + 24264682 24264703 192,0,0 protein_binding_site AP1 107882126|GeneID:107882126 10974538|PMID:10974538 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10974538] AP1 | FOS like 1, AP-1 trancription factor subunit -chr14 24264682 24264703 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 24264682 24264703 192,0,0 protein_binding_site AP1 107882126|GeneID:107882126 10974538|PMID:10974538 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10974538] AP1 | Jun proto-oncogene, AP-1 transcription factor subunit -chr14 24264682 24264703 protein_bind: JunD proto-oncogene, AP-1 transcription factor subunit 0 + 24264682 24264703 192,0,0 protein_binding_site AP1 107882126|GeneID:107882126 10974538|PMID:10974538 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10974538] AP1 | JunD proto-oncogene, AP-1 transcription factor subunit -chr14 24298333 24299124 enhancer 0 + 24298333 24299124 0,128,128 enhancer 106799836|GeneID:106799836 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr14 25908165 25909597 enhancer 0 + 25908165 25909597 0,128,128 enhancer VISTA enhancer hs428 110120874|GeneID:110120874 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] VISTA enhancer hs428 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] -chr14 28756868 28758467 enhancer 0 + 28756868 28758467 0,128,128 enhancer VISTA enhancer hs1064 110121319|GeneID:110121319 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/5] | forebrain[3/5] VISTA enhancer hs1064 | enhancer in: hindbrain (rhombencephalon)[3/5] | forebrain[3/5] -chr14 29215689 29217538 enhancer 0 + 29215689 29217538 0,128,128 enhancer VISTA enhancer hs566 110120895|GeneID:110120895 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/5] VISTA enhancer hs566 | enhancer in: forebrain[5/5] -chr14 29241678 29244134 enhancer 0 + 29241678 29244134 0,128,128 enhancer VISTA enhancer hs1539 110121392|GeneID:110121392 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] VISTA enhancer hs1539 | enhancer in: hindbrain (rhombencephalon)[4/5] -chr14 29274167 29276675 enhancer 0 + 29274167 29276675 0,128,128 enhancer VISTA enhancer hs1168 110121327|GeneID:110121327 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/8] | cranial nerve[8/8] | facial mesenchyme[7/8] VISTA enhancer hs1168 | enhancer in: hindbrain (rhombencephalon)[3/8] | cranial nerve[8/8] | facial mesenchyme[7/8] -chr14 29388723 29391342 enhancer 0 + 29388723 29391342 0,128,128 enhancer VISTA enhancer hs1523 110120856|GeneID:110120856 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[11/13] | forebrain[12/13] VISTA enhancer hs1523 | enhancer in: midbrain (mesencephalon)[11/13] | forebrain[12/13] -chr14 29391322 29393142 enhancer 0 + 29391322 29393142 0,128,128 enhancer VISTA enhancer hs342 110120856|GeneID:110120856 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/7] VISTA enhancer hs342 | enhancer in: forebrain[4/7] -chr14 29458277 29459612 enhancer 0 + 29458277 29459612 0,128,128 enhancer VISTA enhancer hs598 110120904|GeneID:110120904 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] VISTA enhancer hs598 | enhancer in: neural tube[4/4] -chr14 30272543 30274420 enhancer 0 + 30272543 30274420 0,128,128 enhancer VISTA enhancer hs433 110120876|GeneID:110120876 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] | forebrain[6/6] VISTA enhancer hs433 | enhancer in: hindbrain (rhombencephalon)[5/6] | forebrain[6/6] -chr14 34546527 34546758 enhancer 0 + 34546527 34546758 0,128,128 enhancer 106799848|GeneID:106799848 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr14 34556344 34556575 enhancer 0 + 34556344 34556575 0,128,128 enhancer 106799849|GeneID:106799849 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr14 35385477 35386000 enhancer 0 + 35385477 35386000 0,128,128 enhancer amplified fragment containing the chr14:35854902-35855043 (GRCh37) CAGE region 108281128|GeneID:108281128 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr14:35854902-35855043 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa and HepG2 cells -chr14 35385695 35385837 CAGE_cluster 0 + 35385695 35385837 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281128|GeneID:108281128 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr14 35550817 35551792 enhancer 0 + 35550817 35551792 0,128,128 enhancer VISTA enhancer hs348 110120857|GeneID:110120857 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/9] VISTA enhancer hs348 | enhancer in: forebrain[6/9] -chr14 36345095 36346731 enhancer 0 + 36345095 36346731 0,128,128 enhancer VISTA enhancer hs592 110120901|GeneID:110120901 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/9] VISTA enhancer hs592 | enhancer in: hindbrain (rhombencephalon)[8/9] -chr14 36441956 36445155 enhancer 0 + 36441956 36445155 0,128,128 enhancer VISTA enhancer hs1538 110121391|GeneID:110121391 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs1538 | enhancer in: forebrain[4/4] -chr14 36463944 36465327 enhancer 0 + 36463944 36465327 0,128,128 enhancer VISTA enhancer hs704 110120925|GeneID:110120925 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] VISTA enhancer hs704 | enhancer in: hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] -chr14 36504569 36505380 enhancer 0 + 36504569 36505380 0,128,128 enhancer VISTA enhancer hs1166 110121326|GeneID:110121326 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs1166 | enhancer in: forebrain[6/6] -chr14 36660593 36661791 promoter 0 + 36660593 36661791 0,128,128 promoter -1106 to +92 fragment 108281111|GeneID:108281111,5083|GeneID:5083 20941745|PMID:20941745 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20941745] -1106 to +92 fragment -chr14 36660802 36660862 conserved_region 0 + 36660802 36660862 192,0,192 sequence_feature conserved region; includes polymorphic -1258 G>A site 108281111|GeneID:108281111,5083|GeneID:5083 21443745|PMID:21443745 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:21443745] conserved region; includes polymorphic -1258 G>A site -chr14 36661050 36661563 transcriptional_cis_regulatory_region 0 + 36661050 36661563 0,128,128 region ApaI fragment (-645 to -138) 108281111|GeneID:108281111,5083|GeneID:5083 20941745|PMID:20941745 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20941745] may mediate response to retinoic acid and dexamethasone ApaI fragment (-645 to -138) | may mediate response to retinoic acid and dexamethasone -chr14 37257134 37258143 enhancer 0 + 37257134 37258143 0,128,128 enhancer VISTA enhancer hs593 110120902|GeneID:110120902,145282|GeneID:145282 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/3] VISTA enhancer hs593 | enhancer in: midbrain (mesencephalon)[3/3] -chr14 50943310 50943834 enhancer 0 + 50943310 50943834 0,128,128 enhancer amplified fragment containing the chr14:51410207-51410388 (GRCh37) CAGE region 108281122|GeneID:108281122 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr14:51410207-51410388 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr14 50943488 50943670 CAGE_cluster 0 + 50943488 50943670 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281122|GeneID:108281122 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr14 52080581 52081064 CAGE_cluster 0 + 52080581 52081064 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108228206|GeneID:108228206 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr14 52080626 52081216 enhancer 0 + 52080626 52081216 0,128,128 enhancer amplified fragment containing most of the chr14:52547300-52547782 (GRCh37) CAGE region 108228206|GeneID:108228206 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr14:52547300-52547782 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr14 53366738 53369492 enhancer 0 + 53366738 53369492 0,128,128 enhancer VISTA enhancer hs1151 110121325|GeneID:110121325,105370504|GeneID:105370504 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[8/8] | heart[3/8] VISTA enhancer hs1151 | enhancer in: limb[8/8] | heart[3/8] -chr14 53569234 53574178 enhancer 0 + 53569234 53574178 0,128,128 enhancer VISTA enhancer hs1629 110121414|GeneID:110121414,105370504|GeneID:105370504 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[11/11] | facial mesenchyme[11/11] VISTA enhancer hs1629 | enhancer in: somite[11/11] | facial mesenchyme[11/11] -chr14 53944030 53945475 enhancer 0 + 53944030 53945475 0,128,128 enhancer rs4444235 enhancer 109433679|GeneID:109433679 22158048|PMID:22158048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22158048] rs4444235 enhancer -chr14 53953394 53953428 protein_bind: short stature homeobox 2 0 + 53953394 53953428 192,0,0 protein_binding_site Shox2 site 109433677|GeneID:109433677 20858598|PMID:20858598 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20858598] Shox2 site | short stature homeobox 2 -chr14 53953755 53954256 promoter 0 + 53953755 53954256 0,128,128 promoter bp5 construct; +2581 to +3080 109433677|GeneID:109433677 24477565|PMID:24477565 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24477565] bp5 construct; +2581 to +3080 -chr14 53954427 53954748 promoter 0 + 53954427 53954748 0,128,128 promoter pSLA4.2NN for P2 promoter 109433677|GeneID:109433677 10457277|PMID:10457277 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10457277] pSLA4.2NN for P2 promoter -chr14 53954427 53955723 promoter 0 + 53954427 53955723 0,128,128 promoter pSLA4.2PN for P2 promoter 109433677|GeneID:109433677 10457277|PMID:10457277 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10457277] pSLA4.2PN for P2 promoter -chr14 53954851 53954885 protein_bind: NK2 homeobox 1 0 + 53954851 53954885 192,0,0 protein_binding_site Bmp4.2-2 site 109433677|GeneID:109433677 14960358|PMID:14960358 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14960358] positive regulation of promoter activity Bmp4.2-2 site | positive regulation of promoter activity | NK2 homeobox 1 -chr14 53954893 53954927 protein_bind: NK2 homeobox 1 0 + 53954893 53954927 192,0,0 protein_binding_site Bmp4.2-1 site 109433677|GeneID:109433677 14960358|PMID:14960358 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14960358] positive regulation of promoter activity Bmp4.2-1 site | positive regulation of promoter activity | NK2 homeobox 1 -chr14 53956650 53957993 promoter 0 + 53956650 53957993 0,128,128 promoter pSLA4.1EX for P1 promoter 109433677|GeneID:109433677 10457277|PMID:10457277 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10457277] pSLA4.1EX for P1 promoter -chr14 53956650 53958769 promoter 0 + 53956650 53958769 0,128,128 promoter -1917 promoter fragment 109433677|GeneID:109433677 9701626|PMID:9701626 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9701626] -1917 promoter fragment -chr14 53956873 53956908 protein_bind: RELA proto-oncogene, NF-kB subunit 0 + 53956873 53956908 192,0,0 protein_binding_site oligo B 109433677|GeneID:109433677 17350185|PMID:17350185 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17350185] oligo B | RELA proto-oncogene, NF-kB subunit -chr14 53956878 53956900 protein_bind: Sp1 transcription factor 0 + 53956878 53956900 192,0,0 protein_binding_site oligo B 109433677|GeneID:109433677 17350185|PMID:17350185,21411747|PMID:21411747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17350185, PMID:21411747] oligo B | Sp1 transcription factor -chr14 53956930 53956952 protein_bind: Sp1 transcription factor 0 + 53956930 53956952 192,0,0 protein_binding_site oligo A 109433677|GeneID:109433677 21411747|PMID:21411747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21411747] oligo A | Sp1 transcription factor -chr14 53957372 53957396 protein_bind: NK2 homeobox 1 0 + 53957372 53957396 192,0,0 protein_binding_site Bmp4.1-4 site 109433677|GeneID:109433677 14960358|PMID:14960358 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14960358] positive regulation of promoter activity Bmp4.1-4 site | positive regulation of promoter activity | NK2 homeobox 1 -chr14 53957390 53957428 protein_bind: RELA proto-oncogene, NF-kB subunit 0 + 53957390 53957428 192,0,0 protein_binding_site NF-kB-Oligo 3 109433677|GeneID:109433677 17350185|PMID:17350185 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17350185] NF-kB-Oligo 3 | RELA proto-oncogene, NF-kB subunit -chr14 53957692 53957717 protein_bind: runt related transcription factor 2 0 + 53957692 53957717 192,0,0 protein_binding_site CBE (-865) 109433677|GeneID:109433677 11054542|PMID:11054542 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11054542] CBE (-865) | runt related transcription factor 2 -chr14 53957724 53957762 protein_bind: NK2 homeobox 1 0 + 53957724 53957762 192,0,0 protein_binding_site Bmp4.1-2 site 109433677|GeneID:109433677 14960358|PMID:14960358 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14960358] Bmp4.1-2 site | NK2 homeobox 1 -chr14 53957902 53957926 protein_bind: GATA binding protein 1 0 + 53957902 53957926 192,0,0 protein_binding_site GATA1 site 109433677|GeneID:109433677 10457277|PMID:10457277 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10457277] GATA1 site | GATA binding protein 1 -chr14 54220864 54221777 enhancer 0 + 54220864 54221777 0,128,128 enhancer VISTA enhancer hs1414 110121362|GeneID:110121362 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/13] VISTA enhancer hs1414 | enhancer in: limb[10/13] -chr14 56853945 56857601 enhancer 0 + 56853945 56857601 0,128,128 enhancer VISTA enhancer hs1579 110121404|GeneID:110121404,100309464|GeneID:100309464 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] VISTA enhancer hs1579 | enhancer in: forebrain[4/6] -chr14 56952289 56954727 enhancer 0 + 56952289 56954727 0,128,128 enhancer VISTA enhancer hs1150 110121324|GeneID:110121324 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[8/9] VISTA enhancer hs1150 | enhancer in: eye[8/9] -chr14 56964168 56965628 enhancer 0 + 56964168 56965628 0,128,128 enhancer VISTA enhancer hs1218 110121333|GeneID:110121333 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/7] VISTA enhancer hs1218 | enhancer in: midbrain (mesencephalon)[7/7] -chr14 57007425 57011372 enhancer 0 + 57007425 57011372 0,128,128 enhancer VISTA enhancer hs1791 110121447|GeneID:110121447 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[15/15] VISTA enhancer hs1791 | enhancer in: midbrain (mesencephalon)[15/15] -chr14 60653480 60655733 enhancer 0 + 60653480 60655733 0,128,128 enhancer VISTA enhancer hs1602 110121407|GeneID:110121407 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[6/6] | branchial arch[6/6] | facial mesenchyme[6/6] VISTA enhancer hs1602 | enhancer in: dorsal root ganglion[6/6] | branchial arch[6/6] | facial mesenchyme[6/6] -chr14 68168125 68169343 enhancer 0 + 68168125 68169343 0,128,128 enhancer VISTA enhancer hs1392 110121358|GeneID:110121358,5890|GeneID:5890 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/9] | heart[8/9] VISTA enhancer hs1392 | enhancer in: limb[4/9] | heart[8/9] -chr14 68376039 68379058 enhancer 0 + 68376039 68379058 0,128,128 enhancer VISTA enhancer hs1688 110121431|GeneID:110121431,5890|GeneID:5890 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/5] VISTA enhancer hs1688 | enhancer in: branchial arch[4/5] -chr14 68509686 68512666 enhancer 0 + 68509686 68512666 0,128,128 enhancer VISTA enhancer hs1616 110121412|GeneID:110121412,5890|GeneID:5890 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/11] | branchial arch[7/11] | nose[9/11] | facial mesenchyme[9/11] VISTA enhancer hs1616 | enhancer in: limb[6/11] | branchial arch[7/11] | nose[9/11] | facial mesenchyme[9/11] -chr14 68547476 68548068 enhancer 0 + 68547476 68548068 0,128,128 enhancer amplified fragment containing the chr14:69014304-69014714 (GRCh37) CAGE region 108281166|GeneID:108281166,5890|GeneID:5890 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr14:69014304-69014714 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr14 68547586 68547997 CAGE_cluster 0 + 68547586 68547997 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281166|GeneID:108281166,5890|GeneID:5890 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr14 75236669 75238350 enhancer 0 + 75236669 75238350 0,128,128 enhancer VISTA enhancer hs1657 110121422|GeneID:110121422 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[7/7] | heart[7/7] VISTA enhancer hs1657 | enhancer in: somite[7/7] | heart[7/7] -chr14 75257720 75260295 enhancer 0 + 75257720 75260295 0,128,128 enhancer VISTA enhancer hs1481 110121376|GeneID:110121376,105370571|GeneID:105370571 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/5] VISTA enhancer hs1481 | enhancer in: heart[3/5] -chr14 75993294 75997277 enhancer 0 + 75993294 75997277 0,128,128 enhancer VISTA enhancer hs2157 110121490|GeneID:110121490,112752|GeneID:112752 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/10] VISTA enhancer hs2157 | enhancer in: heart[8/10] -chr14 76918297 76921354 enhancer 0 + 76918297 76921354 0,128,128 enhancer VISTA enhancer hs1466 110121372|GeneID:110121372 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[7/8] | forebrain[6/8] | limb[8/8] | branchial arch[8/8] | heart[6/8] VISTA enhancer hs1466 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[7/8] | forebrain[6/8] | limb[8/8] | branchial arch[8/8] | heart[6/8] -chr14 77040527 77045010 enhancer 0 + 77040527 77045010 0,128,128 enhancer VISTA enhancer hs1903 110121459|GeneID:110121459 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[7/16] | melanocytes[12/16] VISTA enhancer hs1903 | enhancer in: somite[7/16] | melanocytes[12/16] -chr14 79629395 79630967 enhancer 0 + 79629395 79630967 0,128,128 enhancer VISTA enhancer hs1369 110121354|GeneID:110121354,9369|GeneID:9369 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/8] VISTA enhancer hs1369 | enhancer in: neural tube[4/8] -chr14 81219168 81219719 CAGE_cluster 0 + 81219168 81219719 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251794|GeneID:108251794 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr14 81219172 81219681 enhancer 0 + 81219172 81219681 0,128,128 enhancer amplified fragment containing most of the chr14:81685513-81686063 (GRCh37) CAGE region 108251794|GeneID:108251794 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr14:81685513-81686063 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr14 92071010 92071052 repeat_instability_region 0 + 92071010 92071052 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 3 108663987|GeneID:108663987 7874163|PMID:7874163 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:7874163] repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 3 -chr14 92071010 92071052 tandem 0 + 92071010 92071052 0,0,192 repeat_region 108663987|GeneID:108663987 repeat_region -chr14 95370076 95373144 enhancer 0 + 95370076 95373144 0,128,128 enhancer VISTA enhancer hs1486 110121377|GeneID:110121377 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/8] VISTA enhancer hs1486 | enhancer in: limb[5/8] -chr14 98999862 99000807 enhancer 0 + 98999862 99000807 0,128,128 enhancer VISTA enhancer hs622 110120910|GeneID:110120910 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/9] VISTA enhancer hs622 | enhancer in: forebrain[5/9] -chr14 99573314 99577989 enhancer 0 + 99573314 99577989 0,128,128 enhancer VISTA enhancer hs1931 110121463|GeneID:110121463 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[11/11] VISTA enhancer hs1931 | enhancer in: heart[11/11] -chr14 105686121 105686482 enhancer 0 - 105686121 105686482 0,128,128 enhancer HS4 enhancer 3492|GeneID:3492 HS4 enhancer -chr14 105696279 105696654 enhancer 0 + 105696279 105696654 0,128,128 enhancer HS12 enhancer HS12 enhancer -chr14 105700942 105701264 enhancer 0 - 105700942 105701264 0,128,128 enhancer HS3 enhancer 3492|GeneID:3492 HS3 enhancer -chr14 105817625 105818834 enhancer 0 + 105817625 105818834 0,128,128 enhancer amplified fragment containing the chr14:106283960-106285167 (GRCh37) CAGE-defined region 108348026|GeneID:108348026 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr14:106283960-106285167 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr14 105861788 105862370 enhancer 0 - 105861788 105862370 0,128,128 enhancer 3492|GeneID:3492 enhancer -chr14_KI270846v1_alt 153890 154251 enhancer 0 - 153890 154251 0,128,128 enhancer HS4 enhancer 3492|GeneID:3492 HS4 enhancer -chr14_KI270846v1_alt 164048 164423 enhancer 0 + 164048 164423 0,128,128 enhancer HS12 enhancer HS12 enhancer -chr14_KI270846v1_alt 168711 169033 enhancer 0 - 168711 169033 0,128,128 enhancer HS3 enhancer 3492|GeneID:3492 HS3 enhancer -chr14_KI270846v1_alt 285394 286603 enhancer 0 + 285394 286603 0,128,128 enhancer amplified fragment containing the chr14:106283960-106285167 (GRCh37) CAGE-defined region 108348026|GeneID:108348026 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr14:106283960-106285167 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr14_KI270846v1_alt 329557 330139 enhancer 0 - 329557 330139 0,128,128 enhancer 3492|GeneID:3492 enhancer -chr15 30411957 30423892 non_allelic_homologous 0 + 30411957 30423892 160,82,45 recombination_feature 15q13.2 beta inversion proximal recombination region, recombines with the 15q13.2 beta inversion distal recombination region 106736464|GeneID:106736464,101927788|GeneID:101927788 25326701|PMID:25326701 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25326701] 15q13.2 beta inversion proximal recombination region, recombines with the 15q13.2 beta inversion distal recombination region -chr15 30542344 30554283 non_allelic_homologous 0 + 30542344 30554283 160,82,45 recombination_feature 15q13.2 beta inversion distal recombination region, recombines with the 15q13.2 beta inversion proximal recombination region 106736465|GeneID:106736465 25326701|PMID:25326701 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25326701] 15q13.2 beta inversion distal recombination region, recombines with the 15q13.2 beta inversion proximal recombination region -chr15 30565814 30597289 non_allelic_homologous 0 + 30565814 30597289 160,82,45 recombination_feature 15q13.2-13.3 gamma inversion proximal recombination region, recombines with the 15q13.2-13.3 gamma inversion distal recombination region 106736468|GeneID:106736468 25326701|PMID:25326701 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25326701] 15q13.2-13.3 gamma inversion proximal recombination region, recombines with the 15q13.2-13.3 gamma inversion distal recombination region -chr15 30614938 30628733 non_allelic_homologous 0 + 30614938 30628733 160,82,45 recombination_feature 15q13 proximal microdeletion recombination region, recombines with the 15q13 distal microdeletion recombination region 106736480|GeneID:106736480 25326701|PMID:25326701 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:25326701] 15q13 proximal microdeletion recombination region, recombines with the 15q13 distal microdeletion recombination region -chr15 30625935 30626187 enhancer 0 + 30625935 30626187 0,128,128 enhancer 106783506|GeneID:106783506 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr15 30696738 30698247 non_allelic_homologous 0 + 30696738 30698247 160,82,45 recombination_feature sub-region 6, recombines with sub-region 6' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 6, recombines with sub-region 6' within the distal CHRNA7 low-copy repeat recombination region -chr15 30699997 30700195 non_allelic_homologous 0 + 30699997 30700195 160,82,45 recombination_feature sub-region 5, recombines with sub-region 5' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 5, recombines with sub-region 5' within the distal CHRNA7 low-copy repeat recombination region -chr15 30705085 30705130 non_allelic_homologous 0 + 30705085 30705130 160,82,45 recombination_feature sub-region 4, recombines with sub-region 4' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 4, recombines with sub-region 4' within the distal CHRNA7 low-copy repeat recombination region -chr15 30707858 30707998 non_allelic_homologous 0 + 30707858 30707998 160,82,45 recombination_feature sub-region 3, recombines with sub-region 3' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 3, recombines with sub-region 3' within the distal CHRNA7 low-copy repeat recombination region -chr15 30711562 30711659 non_allelic_homologous 0 + 30711562 30711659 160,82,45 recombination_feature sub-region 2, recombines with sub-region 2' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 2, recombines with sub-region 2' within the distal CHRNA7 low-copy repeat recombination region -chr15 30724169 30725090 meiotic 0 + 30724169 30725090 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 106736476|GeneID:106736476,100288637|GeneID:100288637 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr15 30735390 30736191 meiotic 0 + 30735390 30736191 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 106736476|GeneID:106736476,100288637|GeneID:100288637 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr15 30735471 30736030 non_allelic_homologous 0 + 30735471 30736030 160,82,45 recombination_feature sub-region 1, recombines with sub-region 1' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 1, recombines with sub-region 1' within the distal CHRNA7 low-copy repeat recombination region -chr15 31303586 31308005 enhancer 0 + 31303586 31308005 0,128,128 enhancer VISTA enhancer hs2231 110121498|GeneID:110121498 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] VISTA enhancer hs2231 | enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] -chr15 31669428 31670531 meiotic 0 + 31669428 31670531 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 106736477|GeneID:106736477 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr15 31669736 31670295 non_allelic_homologous 0 + 31669736 31670295 160,82,45 recombination_feature sub-region 1', recombines with sub-region 1 within the proximal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 1', recombines with sub-region 1 within the proximal CHRNA7 low-copy repeat recombination region -chr15 31680528 31681903 meiotic 0 + 31680528 31681903 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 106736477|GeneID:106736477 25395542|PMID:25395542 DESCRIPTION:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr15 31694040 31694137 non_allelic_homologous 0 + 31694040 31694137 160,82,45 recombination_feature sub-region 2', recombines with sub-region 2 within the proximal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 2', recombines with sub-region 2 within the proximal CHRNA7 low-copy repeat recombination region -chr15 31697693 31697834 non_allelic_homologous 0 + 31697693 31697834 160,82,45 recombination_feature sub-region 3', recombines with sub-region 3 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 3', recombines with sub-region 3 within the distal CHRNA7 low-copy repeat recombination region -chr15 31700558 31700605 non_allelic_homologous 0 + 31700558 31700605 160,82,45 recombination_feature sub-region 4', recombines with sub-region 4 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 4', recombines with sub-region 4 within the distal CHRNA7 low-copy repeat recombination region -chr15 31705495 31705693 non_allelic_homologous 0 + 31705495 31705693 160,82,45 recombination_feature sub-region 5', recombines with sub-region 5 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 5', recombines with sub-region 5 within the distal CHRNA7 low-copy repeat recombination region -chr15 31707445 31708953 non_allelic_homologous 0 + 31707445 31708953 160,82,45 recombination_feature sub-region 6', recombines with sub-region 6 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 6', recombines with sub-region 6 within the distal CHRNA7 low-copy repeat recombination region -chr15 32410029 32441792 non_allelic_homologous 0 + 32410029 32441792 160,82,45 recombination_feature 15q13.2-13.3 gamma inversion distal recombination region, recombines with the 15q13.2-13.3 gamma inversion proximal recombination region 106736469|GeneID:106736469 25326701|PMID:25326701 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25326701] 15q13.2-13.3 gamma inversion distal recombination region, recombines with the 15q13.2-13.3 gamma inversion proximal recombination region -chr15 32594586 32617077 non_allelic_homologous 0 + 32594586 32617077 160,82,45 recombination_feature 15q13 distal microdeletion recombination region, recombines with the 15q13 proximal microdeletion recombination region 106736481|GeneID:106736481 25326701|PMID:25326701 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:25326701] 15q13 distal microdeletion recombination region, recombines with the 15q13 proximal microdeletion recombination region -chr15 34796695 34797167 enhancer 0 + 34796695 34797167 0,128,128 enhancer heart enhancer 26 108004527|GeneID:108004527,101928174|GeneID:101928174 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 26 | enhancer in heart -chr15 36526819 36528494 enhancer 0 + 36526819 36528494 0,128,128 enhancer VISTA enhancer hs355 110120858|GeneID:110120858 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] VISTA enhancer hs355 | enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] -chr15 36672617 36673897 enhancer 0 + 36672617 36673897 0,128,128 enhancer VISTA enhancer hs828 110120936|GeneID:110120936,84529|GeneID:84529 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/11] VISTA enhancer hs828 | enhancer in: hindbrain (rhombencephalon)[4/11] -chr15 36948603 36950297 enhancer 0 + 36948603 36950297 0,128,128 enhancer VISTA enhancer hs181 110120842|GeneID:110120842 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/4] VISTA enhancer hs181 | enhancer in: midbrain (mesencephalon)[4/4] -chr15 37220472 37222356 enhancer 0 + 37220472 37222356 0,128,128 enhancer VISTA enhancer hs572 110120896|GeneID:110120896 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/9] | hindbrain (rhombencephalon)[6/9] VISTA enhancer hs572 | enhancer in: neural tube[6/9] | hindbrain (rhombencephalon)[6/9] -chr15 37360581 37362259 enhancer 0 + 37360581 37362259 0,128,128 enhancer VISTA enhancer hs599 110120905|GeneID:110120905 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/9] VISTA enhancer hs599 | enhancer in: forebrain[9/9] -chr15 37867305 37868806 enhancer 0 + 37867305 37868806 0,128,128 enhancer VISTA enhancer hs830 110120937|GeneID:110120937 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/5] VISTA enhancer hs830 | enhancer in: midbrain (mesencephalon)[5/5] -chr15 39468319 39469437 enhancer 0 + 39468319 39469437 0,128,128 enhancer amplified fragment containing the chr15:39760520-39761638 (GRCh37) CAGE-defined region 108353818|GeneID:108353818 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in monocytes amplified fragment containing the chr15:39760520-39761638 (GRCh37) CAGE-defined region | transcribed enhancer in monocytes -chr15 40091358 40093937 enhancer 0 + 40091358 40093937 0,128,128 enhancer VISTA enhancer hs1611 110121409|GeneID:110121409 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] | somite[6/8] | midbrain (mesencephalon)[6/8] | forebrain[6/8] VISTA enhancer hs1611 | enhancer in: hindbrain (rhombencephalon)[6/8] | somite[6/8] | midbrain (mesencephalon)[6/8] | forebrain[6/8] -chr15 43879048 43881693 enhancer 0 + 43879048 43881693 0,128,128 enhancer VISTA enhancer hs1881 110121457|GeneID:110121457 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/14] VISTA enhancer hs1881 | enhancer in: heart[6/14] -chr15 47812323 47812821 enhancer 0 + 47812323 47812821 0,128,128 enhancer amplified fragment containing most of the FANTOM5 chr15:48104672-48105061 (GRCh37) CAGE region 108178996|GeneID:108178996 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the FANTOM5 chr15:48104672-48105061 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr15 47812474 47812864 CAGE_cluster 0 + 47812474 47812864 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108178996|GeneID:108178996 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr15 50137250 50137757 enhancer 0 + 50137250 50137757 0,128,128 enhancer amplified fragment containing most of the chr15:50429549-50429984 (GRCh37) CAGE region 108251795|GeneID:108251795 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr15:50429549-50429984 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr15 50137351 50137787 CAGE_cluster 0 + 50137351 50137787 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251795|GeneID:108251795 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr15 51242867 51243125 promoter 0 + 51242867 51243125 0,128,128 promoter 259 nt promoter 110386951|GeneID:110386951,109729174|GeneID:109729174 1331779|PMID:1331779 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1331779] 259 nt promoter -chr15 51242927 51243905 promoter 0 + 51242927 51243905 0,128,128 promoter B promoter fragment; -867+103 110386951|GeneID:110386951,109729174|GeneID:109729174 16322405|PMID:16322405 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16322405] B promoter fragment; -867+103 -chr15 51243045 51243307 promoter 0 + 51243045 51243307 0,128,128 promoter -278 pII promoter 110386951|GeneID:110386951,109729174|GeneID:109729174 7768959|PMID:7768959 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7768959] cyclic AMP responsive promoter; drives expression in ovary -278 pII promoter | cyclic AMP responsive promoter; drives expression in ovary -chr15 51243088 51243125 protein_bind: forkhead box L2 0 + 51243088 51243125 192,0,0 protein_binding_site FOXL2 conserved site 110386951|GeneID:110386951,109729174|GeneID:109729174 21188138|PMID:21188138 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21188138] positive regulation of promoter activity FOXL2 conserved site | positive regulation of promoter activity | forkhead box L2 -chr15 51243125 51243287 silencer 0 + 51243125 51243287 0,128,128 silencer 162 nt silencer fragment 110386951|GeneID:110386951,109729174|GeneID:109729174 1331779|PMID:1331779 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1331779] 162 nt silencer fragment -chr15 51243131 51243163 protein_bind: estrogen receptor 1 0 + 51243131 51243163 192,0,0 protein_binding_site S1 site 110386951|GeneID:110386951,109729174|GeneID:109729174 11973645|PMID:11973645 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11973645] negatively regulates promoter activity S1 site | negatively regulates promoter activity | estrogen receptor 1 -chr15 51243132 51243162 silencer 0 + 51243132 51243162 0,128,128 silencer S1 element 110386951|GeneID:110386951,109729174|GeneID:109729174 9606955|PMID:9606955 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9606955] S1 element -chr15 51243147 51243163 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 51243147 51243163 192,0,0 protein_binding_site hexameric element 110386951|GeneID:110386951,109729174|GeneID:109729174 7768959|PMID:7768959,9865725|PMID:9865725,9973254|PMID:9973254 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7768959, PMID:9865725, PMID:9973254] positive regulation of promoter activity hexameric element | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr15 51243147 51243168 protein_bind: nuclear receptor subfamily 2 group F members 1 and 2 0 + 51243147 51243168 192,0,0 protein_binding_site nuclear receptor 1/2 site 110386951|GeneID:110386951,109729174|GeneID:109729174 9973254|PMID:9973254 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9973254] negative regulation of promoter activity nuclear receptor 1/2 site | negative regulation of promoter activity | nuclear receptor subfamily 2 group F members 1 and 2 -chr15 51243147 51243168 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 51243147 51243168 192,0,0 protein_binding_site nuclear receptor 1/2 site 110386951|GeneID:110386951,109729174|GeneID:109729174 11927588|PMID:11927588 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11927588] positive regulation of promoter activity in breast adipose nuclear receptor 1/2 site | positive regulation of promoter activity in breast adipose | nuclear receptor subfamily 5 group A member 2 -chr15 51243148 51243160 protein_bind: estrogen related receptor alpha 0 + 51243148 51243160 192,0,0 protein_binding_site 5' half of S1 site; nuclease protected region 110386951|GeneID:110386951,109729174|GeneID:109729174 9865725|PMID:9865725 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:9865725] 5' half of S1 site; nuclease protected region | estrogen related receptor alpha -chr15 51243189 51243217 silencer 0 + 51243189 51243217 0,128,128 silencer S2-1 element 110386951|GeneID:110386951,109729174|GeneID:109729174 11016753|PMID:11016753 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11016753] S2-1 element -chr15 51243220 51243243 protein_bind: CCAAT/enhancer binding proteins 0 + 51243220 51243243 192,0,0 protein_binding_site p450arom pII(-214/-192); CRE2 or CLS 110386951|GeneID:110386951,109729174|GeneID:109729174 11994385|PMID:11994385 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11994385] p450arom pII(-214/-192); CRE2 or CLS | CCAAT/enhancer binding proteins -chr15 51243220 51243243 protein_bind: activating transcription factor 2 0 + 51243220 51243243 192,0,0 protein_binding_site p450arom pII(-214/-192); CRE2 or CLS 110386951|GeneID:110386951,109729174|GeneID:109729174 11994385|PMID:11994385 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11994385] p450arom pII(-214/-192); CRE2 or CLS | activating transcription factor 2 -chr15 51243223 51243249 protein_bind: Jun and JunD proto-oncogene, AP-1 transcription factor subunit 0 + 51243223 51243249 192,0,0 protein_binding_site CLS (CRE-like sequence) 110386951|GeneID:110386951,109729174|GeneID:109729174 15688015|PMID:15688015 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15688015] negative regulation of promoter activity CLS (CRE-like sequence) | negative regulation of promoter activity | Jun and JunD proto-oncogene, AP-1 transcription factor subunit -chr15 51243223 51243249 protein_bind: JunB proto-oncogene, AP-1 transcription factor subunit 0 + 51243223 51243249 192,0,0 protein_binding_site CRE(-211/-199) 110386951|GeneID:110386951,109729174|GeneID:109729174 21393445|PMID:21393445 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21393445] mediates induction of promoter by prostaglandin; modulated by binding of Jun and Jund CRE(-211/-199) | mediates induction of promoter by prostaglandin; modulated by binding of Jun and Jund | JunB proto-oncogene, AP-1 transcription factor subunit -chr15 51243226 51243246 protein_bind: cAMP responsive element binding protein 1 0 + 51243226 51243246 192,0,0 protein_binding_site CLS (CRE-like sequence) 110386951|GeneID:110386951,109729174|GeneID:109729174 9426158|PMID:9426158 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9426158] CLS (CRE-like sequence) | cAMP responsive element binding protein 1 -chr15 51243250 51243280 promoter 0 + 51243250 51243280 0,128,128 promoter exon 1.3 promoter; B1 sequence 110386951|GeneID:110386951,109729174|GeneID:109729174 8662988|PMID:8662988 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8662988] exon 1.3 promoter; B1 sequence -chr15 51243252 51243283 protein_bind: CCAAT/enhancer binding protein alpha and delta 0 + 51243252 51243283 192,0,0 protein_binding_site -245 to -231 110386951|GeneID:110386951,109729174|GeneID:109729174 18182446|PMID:18182446 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18182446] mediates induction of promoter by cyclic AMP -245 to -231 | mediates induction of promoter by cyclic AMP | CCAAT/enhancer binding protein alpha and delta -chr15 51243277 51243299 transcriptional_cis_regulatory_region 0 + 51243277 51243299 0,128,128 region distal NRHS (nuclear receptor half site) 110386951|GeneID:110386951,109729174|GeneID:109729174 14580722|PMID:14580722 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:14580722] important for induction of promoter by cyclic AMP distal NRHS (nuclear receptor half site) | important for induction of promoter by cyclic AMP -chr15 51243294 51243315 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit; FBJ osteosarcoma oncogene 0 + 51243294 51243315 192,0,0 protein_binding_site C1 site 110386951|GeneID:110386951,109729174|GeneID:109729174 19022561|PMID:19022561 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19022561] positive regulation of promoter activity C1 site | positive regulation of promoter activity | Jun proto-oncogene, AP-1 transcription factor subunit; FBJ osteosarcoma oncogene -chr15 51243304 51243331 protein_bind: cAMP responsive element binding protein 1 0 + 51243304 51243331 192,0,0 protein_binding_site CREaro 110386951|GeneID:110386951,109729174|GeneID:109729174 10545204|PMID:10545204 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10545204] mediates induction by cyclic AMP CREaro | mediates induction by cyclic AMP | cAMP responsive element binding protein 1 -chr15 51243304 51243331 protein_bind: snail family transcriptional repressor 1 0 + 51243304 51243331 192,0,0 protein_binding_site CREaro 110386951|GeneID:110386951,109729174|GeneID:109729174 11245431|PMID:11245431 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11245431] negative regulation of promoter activity CREaro | negative regulation of promoter activity | snail family transcriptional repressor 1 -chr15 51243331 51243351 protein_bind: CCAAT/enhancer binding proteins beta and delta 0 + 51243331 51243351 192,0,0 protein_binding_site p450arom PII(-322/-303) 110386951|GeneID:110386951,109729174|GeneID:109729174 11280806|PMID:11280806 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11280806] mediates induction by cyclic AMP p450arom PII(-322/-303) | mediates induction by cyclic AMP | CCAAT/enhancer binding proteins beta and delta -chr15 51243360 51243380 protein_bind: CCAAT/enhancer binding protein delta 0 + 51243360 51243380 192,0,0 protein_binding_site site 2; includes -350/-337 element in PMID:18182446 110386951|GeneID:110386951,109729174|GeneID:109729174 18182446|PMID:18182446,18519709|PMID:18519709 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18519709] mediates induction by cyclic AMP site 2; includes -350/-337 element in PMID:18182446 | mediates induction by cyclic AMP | CCAAT/enhancer binding protein delta -chr15 51243510 51243537 protein_bind: Jun, JunB, JunD proto-oncogenes, AP-1 transcription factor subunits 0 + 51243510 51243537 192,0,0 protein_binding_site AP-1(-498/-492) 110386951|GeneID:110386951,109729174|GeneID:109729174 21393445|PMID:21393445 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21393445] mediates activation of promoter by prostaglandin AP-1(-498/-492) | mediates activation of promoter by prostaglandin | Jun, JunB, JunD proto-oncogenes, AP-1 transcription factor subunits -chr15 51243893 51244050 promoter 0 + 51243893 51244050 0,128,128 promoter promoter I.6; contains SNP (rs1045959) which affects activity 110386951|GeneID:110386951,109729174|GeneID:109729174 21319151|PMID:21319151 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21319151] promoter I.6; contains SNP (rs1045959) which affects activity -chr15 51243957 51243964 transcriptional_cis_regulatory_region 0 + 51243957 51243964 0,128,128 region -935 AP-1 site 110386951|GeneID:110386951,109729174|GeneID:109729174 12734209|PMID:12734209 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:12734209] mediates induction by leptin -935 AP-1 site | mediates induction by leptin -chr15 51282181 51282561 promoter 0 + 51282181 51282561 0,128,128 promoter -299 to +81 promoter 110386949|GeneID:110386949,109729174|GeneID:109729174 12351690|PMID:12351690 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12351690] -299 to +81 promoter -chr15 51282441 51282461 protein_bind: GATA binding protein 2 0 + 51282441 51282461 192,0,0 protein_binding_site GATA (-196/-191) site 110386949|GeneID:110386949,109729174|GeneID:109729174 12351690|PMID:12351690 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12351690] important for promoter activity GATA (-196/-191) site | important for promoter activity | GATA binding protein 2 -chr15 51318522 51319002 promoter 0 + 51318522 51319002 0,128,128 promoter -310 to +170 promoter 110386948|GeneID:110386948 7776980|PMID:7776980 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7776980] -310 to +170 promoter -chr15 51318522 51319208 promoter 0 + 51318522 51319208 0,128,128 promoter -515 to +170 promoter 110386948|GeneID:110386948 7776980|PMID:7776980 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7776980] -515 to +170 promoter -chr15 51318527 51318547 protein_bind: Sp1 transcription factor 0 + 51318527 51318547 192,0,0 protein_binding_site Sp1-like site 110386948|GeneID:110386948 7776980|PMID:7776980 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7776980] Sp1-like site | Sp1 transcription factor -chr15 51318593 51318610 protein_bind: RAR related orphan receptor A 0 + 51318593 51318610 192,0,0 protein_binding_site RORE 110386948|GeneID:110386948 19439415|PMID:19439415 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19439415] positive regulation of promoter activity RORE | positive regulation of promoter activity | RAR related orphan receptor A -chr15 51318809 51318834 protein_bind: nuclear receptor subfamily 3 group C member 1 0 + 51318809 51318834 192,0,0 protein_binding_site GRE 110386948|GeneID:110386948 7776980|PMID:7776980 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7776980] mediates induction by glucocorticoids GRE | mediates induction by glucocorticoids | nuclear receptor subfamily 3 group C member 1 -chr15 51318880 51318904 protein_bind: runt related transcription factor 2 0 + 51318880 51318904 192,0,0 protein_binding_site I-4-Runx2-2 110386948|GeneID:110386948 20231365|PMID:20231365 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20231365] I-4-Runx2-2 | runt related transcription factor 2 -chr15 51318914 51318932 protein_bind: runt related transcription factor 2 0 + 51318914 51318932 192,0,0 protein_binding_site I.4-Runx2-1 110386948|GeneID:110386948 20231365|PMID:20231365 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20231365] I.4-Runx2-1 | runt related transcription factor 2 -chr15 51318960 51318980 protein_bind: signal transducer and activator of transcription 3 0 + 51318960 51318980 192,0,0 protein_binding_site GAS element 110386948|GeneID:110386948 7608217|PMID:7608217 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7608217] mediates induction by JAK/STAT signaling pathway GAS element | mediates induction by JAK/STAT signaling pathway | signal transducer and activator of transcription 3 -chr15 51319181 51319199 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit; FBJ osteosarcoma oncogene 0 + 51319181 51319199 192,0,0 protein_binding_site AP-1 arom site 110386948|GeneID:110386948 8923461|PMID:8923461 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8923461] AP-1 arom site | Jun proto-oncogene, AP-1 transcription factor subunit; FBJ osteosarcoma oncogene -chr15 51338520 51338839 promoter 0 + 51338520 51338839 0,128,128 promoter -242 to +76 promoter 110386947|GeneID:110386947 2171939|PMID:2171939 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2171939] drives expression in placental cells -242 to +76 promoter | drives expression in placental cells -chr15 51338520 51339098 promoter 0 + 51338520 51339098 0,128,128 promoter -500 to +76 promoter 110386947|GeneID:110386947 2171939|PMID:2171939 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2171939] drives expression in placental cells -500 to +76 promoter | drives expression in placental cells -chr15 51338619 51338625 TATA_box 0 + 51338619 51338625 0,128,128 TATA_box 110386947|GeneID:110386947 2171939|PMID:2171939 COORDINATES:motif similarity evidence [ECO:0000028][PMID:2171939] TATA_box -chr15 51338675 51338680 CAAT_signal 0 + 51338675 51338680 0,128,128 CAAT_signal 110386947|GeneID:110386947 2171939|PMID:2171939 COORDINATES:motif similarity evidence [ECO:0000028][PMID:2171939] CAAT_signal -chr15 51338758 51338780 protein_bind: vitamin D receptor; retinoid X receptor alpha 0 + 51338758 51338780 192,0,0 protein_binding_site -183 to -162 110386947|GeneID:110386947 9528950|PMID:9528950 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9528950] mediates induction by retinoids -183 to -162 | mediates induction by retinoids | vitamin D receptor; retinoid X receptor alpha -chr15 51338759 51338839 enhancer 0 + 51338759 51338839 0,128,128 enhancer -242 to -166 110386947|GeneID:110386947 1372865|PMID:1372865 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1372865] -242 to -166 -chr15 51338765 51338789 protein_bind: estrogen-related receptor gamma 0 + 51338765 51338789 192,0,0 protein_binding_site NRE 110386947|GeneID:110386947 21757507|PMID:21757507 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21757507] positive regulation of promoter activity NRE | positive regulation of promoter activity | estrogen-related receptor gamma -chr15 51338768 51338786 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 51338768 51338786 192,0,0 protein_binding_site HARM-a 110386947|GeneID:110386947 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] HARM-a | nuclear receptor subfamily 5 group A member 1 -chr15 51338790 51338808 transcriptional_cis_regulatory_region 0 + 51338790 51338808 0,128,128 region ERE-208 110386947|GeneID:110386947 19299445|PMID:19299445 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:19299445] mediates induction by estrogen/estradiol ERE-208 | mediates induction by estrogen/estradiol -chr15 51338813 51338838 protein_bind: Sp1 transcription factor 0 + 51338813 51338838 192,0,0 protein_binding_site GC box 110386947|GeneID:110386947 9817601|PMID:9817601 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9817601] important for promoter activity GC box | important for promoter activity | Sp1 transcription factor -chr15 51338872 51338902 transcriptional_cis_regulatory_region 0 + 51338872 51338902 0,128,128 region -305 to -275 estrogen site C2 110386947|GeneID:110386947 12839940|PMID:12839940 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:12839940] mediates induction by estrogen -305 to -275 estrogen site C2 | mediates induction by estrogen -chr15 51340642 51341006 enhancer 0 + 51340642 51341006 0,128,128 enhancer -2408 to -2047 110386947|GeneID:110386947 8132535|PMID:8132535 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8132535] -2408 to -2047 -chr15 51340695 51340739 transcriptional_cis_regulatory_region 0 + 51340695 51340739 0,128,128 region hATRE-2 110386947|GeneID:110386947 8132535|PMID:8132535 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:8132535] positive regulation of enhancer activity hATRE-2 | positive regulation of enhancer activity -chr15 51340712 51340739 protein_bind: CCAAT/enhancer binding proteins alpha and beta 0 + 51340712 51340739 192,0,0 protein_binding_site oligo-e 110386947|GeneID:110386947 7626451|PMID:7626451,7635140|PMID:7635140 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7626451, PMID:7635140] oligo-e | CCAAT/enhancer binding proteins alpha and beta -chr15 51340811 51340836 transcriptional_cis_regulatory_region 0 + 51340811 51340836 0,128,128 region hATRE-1 110386947|GeneID:110386947 8132535|PMID:8132535 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:8132535] may negatively regulate enhancer activity hATRE-1 | may negatively regulate enhancer activity -chr15 52093426 52093960 enhancer 0 + 52093426 52093960 0,128,128 enhancer amplified fragment containing the chr15:52385766-52385957 (GRCh37) CAGE region 108281154|GeneID:108281154 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr15:52385766-52385957 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr15 52093568 52093760 CAGE_cluster 0 + 52093568 52093760 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281154|GeneID:108281154 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr15 55846033 55846575 DNase_I_hypersensitive_site 0 + 55846033 55846575 0,128,128 region region containing the chr15.1547 DHS in HeLa-S3 cells; the nucleotide coordinates are approximate for this feature 108281179|GeneID:108281179 22955617|PMID:22955617 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:22955617] region containing the chr15.1547 DHS in HeLa-S3 cells; the nucleotide coordinates are approximate for this feature -chr15 55846033 55846575 enhancer 0 + 55846033 55846575 0,128,128 enhancer amplified fragment containing the chr15.1547 DHS 108281179|GeneID:108281179 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr15.1547 DHS | nontranscribed enhancer in HeLa cells -chr15 57133045 57133760 enhancer 0 + 57133045 57133760 0,128,128 enhancer VISTA enhancer hs357 110120859|GeneID:110120859,6938|GeneID:6938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/10] | hindbrain (rhombencephalon)[6/10] | midbrain (mesencephalon)[9/10] VISTA enhancer hs357 | enhancer in: neural tube[6/10] | hindbrain (rhombencephalon)[6/10] | midbrain (mesencephalon)[9/10] -chr15 57133829 57134754 enhancer 0 + 57133829 57134754 0,128,128 enhancer VISTA enhancer hs623 110120911|GeneID:110120911,6938|GeneID:6938 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/8] VISTA enhancer hs623 | enhancer in: forebrain[4/8] -chr15 63090345 63094142 enhancer 0 + 63090345 63094142 0,128,128 enhancer VISTA enhancer hs2160 110121491|GeneID:110121491 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[7/8] VISTA enhancer hs2160 | enhancer in: tail[7/8] -chr15 66906635 66907796 enhancer 0 + 66906635 66907796 0,128,128 enhancer VISTA enhancer hs660 110120917|GeneID:110120917 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/9] | forebrain[5/9] VISTA enhancer hs660 | enhancer in: neural tube[3/9] | forebrain[5/9] -chr15 67372825 67373347 enhancer 0 + 67372825 67373347 0,128,128 enhancer VISTA enhancer hs358 110120860|GeneID:110120860,64799|GeneID:64799 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[3/11] VISTA enhancer hs358 | enhancer in: branchial arch[3/11] -chr15 67771506 67771782 enhancer 0 + 67771506 67771782 0,128,128 enhancer heart enhancer 7 107988046|GeneID:107988046,5607|GeneID:5607 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 7 | enhancer in heart -chr15 68700628 68700816 enhancer 0 + 68700628 68700816 0,128,128 enhancer heart enhancer 11 107992387|GeneID:107992387,10391|GeneID:10391 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 11 | enhancer in heart -chr15 70099236 70100274 enhancer 0 + 70099236 70100274 0,128,128 enhancer VISTA enhancer hs359 110120861|GeneID:110120861 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/9] VISTA enhancer hs359 | enhancer in: heart[4/9] -chr15 73374264 73378517 enhancer 0 + 73374264 73378517 0,128,128 enhancer VISTA enhancer hs2161 110121492|GeneID:110121492 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[9/9] VISTA enhancer hs2161 | enhancer in: heart[9/9] -chr15 74367595 74369998 promoter 0 + 74367595 74369998 0,128,128 promoter PvuII/HindIII fragment for 2327CAT construct 108964933|GeneID:108964933 1700277|PMID:1700277 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1700277] cyclic AMP responsive promoter; drives expression in adrenal cortex, testis, ovary, granulosa cells PvuII/HindIII fragment for 2327CAT construct | cyclic AMP responsive promoter; drives expression in adrenal cortex, testis, ovary, granulosa cells -chr15 74367669 74367675 TATA_box 0 + 74367669 74367675 0,128,128 TATA_box 108964933|GeneID:108964933 3038854|PMID:3038854,10419010|PMID:10419010 COORDINATES:motif similarity evidence [ECO:0000028][PMID:3038854, PMID:10419010] TATA_box -chr15 74367674 74367702 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 74367674 74367702 192,0,0 protein_binding_site -50 to -25 108964933|GeneID:108964933 15613430|PMID:15613430 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15613430] -50 to -25 | nuclear receptor subfamily 5 group A member 2 -chr15 74367678 74367696 protein_bind: transcription factor AP-2 alpha 0 + 74367678 74367696 192,0,0 protein_binding_site SCC1 site 108964933|GeneID:108964933 12145340|PMID:12145340 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12145340] SCC1 site | transcription factor AP-2 alpha -chr15 74367684 74367693 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74367684 74367693 192,0,0 protein_binding_site Ad4BP site HSC-a 108964933|GeneID:108964933 1517227|PMID:1517227,9468515|PMID:9468515,11328860|PMID:11328860 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227, PMID:9468515, PMID:11328860] positive regulation of promoter activity Ad4BP site HSC-a | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr15 74367740 74367764 protein_bind: Sp1 transcription factor 0 + 74367740 74367764 192,0,0 protein_binding_site P-CRS; -117 to -94 108964933|GeneID:108964933 8119986|PMID:8119986 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8119986] P-CRS; -117 to -94 | Sp1 transcription factor -chr15 74367777 74367802 enhancer 0 + 74367777 74367802 0,128,128 enhancer -155 to -131 108964933|GeneID:108964933 7748495|PMID:7748495,10644752|PMID:10644752 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7748495, PMID:10644752] -155 to -131 -chr15 74367777 74367802 protein_bind: grainyhead-like 1 0 + 74367777 74367802 192,0,0 protein_binding_site -155 to -131 108964933|GeneID:108964933 16730372|PMID:16730372 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16730372] negative regulation of promoter activity -155 to -131 | negative regulation of promoter activity | grainyhead-like 1 -chr15 74367777 74367802 protein_bind: nuclear factor kappa B subunit 1 0 + 74367777 74367802 192,0,0 protein_binding_site -155 to -131 108964933|GeneID:108964933 7748495|PMID:7748495 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7748495] positive regulation of promoter activity -155 to -131 | positive regulation of promoter activity | nuclear factor kappa B subunit 1 -chr15 74367777 74367802 protein_bind: transcription factor CP2 like 1 0 + 74367777 74367802 192,0,0 protein_binding_site -155 to -131 108964933|GeneID:108964933 10644752|PMID:10644752 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10644752] may compete with binding and block upregulation of transcription -155 to -131 | may compete with binding and block upregulation of transcription | transcription factor CP2 like 1 -chr15 74367777 74367802 protein_bind: transcriptional regulating factor 1 0 + 74367777 74367802 192,0,0 protein_binding_site -155 to -131 108964933|GeneID:108964933 11349124|PMID:11349124 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11349124] positive regulation of promoter activity -155 to -131 | positive regulation of promoter activity | transcriptional regulating factor 1 -chr15 74367777 74367802 protein_bind: upstream binding protein 1 (LBP-1a) 0 + 74367777 74367802 192,0,0 protein_binding_site -155 to -131 108964933|GeneID:108964933 10644752|PMID:10644752 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10644752] positive regulation of promoter activity -155 to -131 | positive regulation of promoter activity | upstream binding protein 1 (LBP-1a) -chr15 74368200 74368209 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74368200 74368209 192,0,0 protein_binding_site Ad4BP site HSC-b 108964933|GeneID:108964933 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] Ad4BP site HSC-b | nuclear receptor subfamily 5 group A member 1 -chr15 74368339 74368348 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74368339 74368348 192,0,0 protein_binding_site Ad4BP site HSC-c 108964933|GeneID:108964933 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] Ad4BP site HSC-c | nuclear receptor subfamily 5 group A member 1 -chr15 74369223 74369346 enhancer 0 + 74369223 74369346 0,128,128 enhancer -1697 to -1523; similar to U-CRS 108964933|GeneID:108964933 1847689|PMID:1847689,8119986|PMID:8119986 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1847689, PMID:8119986] cyclic AMP responsive enhancer -1697 to -1523; similar to U-CRS | cyclic AMP responsive enhancer -chr15 74369275 74369296 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 74369275 74369296 192,0,0 protein_binding_site -1597 to -1573 108964933|GeneID:108964933 15613430|PMID:15613430 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15613430] -1597 to -1573 | nuclear receptor subfamily 5 group A member 2 -chr15 74369278 74369286 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74369278 74369286 192,0,0 protein_binding_site Ad4BP site HSC-d 108964933|GeneID:108964933 1517227|PMID:1517227,11328860|PMID:11328860 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227, PMID:11328860] Ad4BP site HSC-d | nuclear receptor subfamily 5 group A member 1 -chr15 74369290 74369308 protein_bind: cAMP responsive element binding protein 1 0 + 74369290 74369308 192,0,0 protein_binding_site CRE-1 108964933|GeneID:108964933 8026494|PMID:8026494,11864972|PMID:11864972 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8026494, PMID:11864972] CRE-1 | cAMP responsive element binding protein 1 -chr15 74369304 74369313 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74369304 74369313 192,0,0 protein_binding_site Ad4BP site HSC-e 108964933|GeneID:108964933 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] Ad4BP site HSC-e | nuclear receptor subfamily 5 group A member 1 -chr15 74369369 74369378 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74369369 74369378 192,0,0 protein_binding_site Ad4BP site HSC-f 108964933|GeneID:108964933 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] Ad4BP site HSC-f | nuclear receptor subfamily 5 group A member 1 -chr15 74369388 74369397 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74369388 74369397 192,0,0 protein_binding_site Ad4BP site HSC-g 108964933|GeneID:108964933 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] Ad4BP site HSC-g | nuclear receptor subfamily 5 group A member 1 -chr15 74369515 74369546 protein_bind: Sp1 transcription factor 0 + 74369515 74369546 192,0,0 protein_binding_site AdE1 108964933|GeneID:108964933 8703023|PMID:8703023 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8703023] AdE1 | Sp1 transcription factor -chr15 74369515 74369574 enhancer 0 + 74369515 74369574 0,128,128 enhancer AdE; -1903 to -1845 108964933|GeneID:108964933 8703023|PMID:8703023 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8703023] AdE; -1903 to -1845 -chr15 74369550 74369574 protein_bind: Sp1 transcription factor 0 + 74369550 74369574 192,0,0 protein_binding_site AdE2 108964933|GeneID:108964933 8703023|PMID:8703023 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8703023] AdE2 | Sp1 transcription factor -chr15 74369773 74369782 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 74369773 74369782 192,0,0 protein_binding_site Ad4BP site HSC-h 108964933|GeneID:108964933 1517227|PMID:1517227 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1517227] Ad4BP site HSC-h | nuclear receptor subfamily 5 group A member 1 -chr15 74578505 74580453 enhancer 0 + 74578505 74580453 0,128,128 enhancer VISTA enhancer hs1510 110121383|GeneID:110121383,10620|GeneID:10620 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[3/3] VISTA enhancer hs1510 | enhancer in: tail[3/3] -chr15 79639580 79640159 enhancer 0 + 79639580 79640159 0,128,128 enhancer amplified fragment containing the chr15:79932091-79932400 (GRCh37) region with regulatory potential 108281191|GeneID:108281191 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr15:79932091-79932400 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr15 79639748 79640058 epigenetically_modified_region 0 + 79639748 79640058 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108281191|GeneID:108281191 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr15 92820233 92820781 enhancer 0 + 92820233 92820781 0,128,128 enhancer amplified fragment containing most of the chr15:93363497-93364154 (GRCh37) CAGE region 108251791|GeneID:108251791 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr15:93363497-93364154 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr15 92820266 92820924 CAGE_cluster 0 + 92820266 92820924 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251791|GeneID:108251791 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr15 93981344 93983913 enhancer 0 + 93981344 93983913 0,128,128 enhancer VISTA enhancer hs1686 110121430|GeneID:110121430,101927129|GeneID:101927129 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[12/12] | hindbrain (rhombencephalon)[7/12] | midbrain (mesencephalon)[8/12] | forebrain[5/12] VISTA enhancer hs1686 | enhancer in: neural tube[12/12] | hindbrain (rhombencephalon)[7/12] | midbrain (mesencephalon)[8/12] | forebrain[5/12] -chr15 96584823 96587064 enhancer 0 + 96584823 96587064 0,128,128 enhancer VISTA enhancer hs1320 110121345|GeneID:110121345 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/8] VISTA enhancer hs1320 | enhancer in: forebrain[3/8] -chr15 98714510 98718999 enhancer 0 + 98714510 98718999 0,128,128 enhancer VISTA enhancer hs1932 110121464|GeneID:110121464,3480|GeneID:3480 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/14] VISTA enhancer hs1932 | enhancer in: heart[6/14] -chr15_KI270905v1_alt 2696846 2708784 non_allelic_homologous 0 - 2696846 2708784 160,82,45 recombination_feature 15q13.2 beta inversion distal recombination region, recombines with the 15q13.2 beta inversion proximal recombination region 106736465|GeneID:106736465 25326701|PMID:25326701 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25326701] 15q13.2 beta inversion distal recombination region, recombines with the 15q13.2 beta inversion proximal recombination region -chr15_KI270905v1_alt 2827309 2839249 non_allelic_homologous 0 - 2827309 2839249 160,82,45 recombination_feature 15q13.2 beta inversion proximal recombination region, recombines with the 15q13.2 beta inversion distal recombination region 106736464|GeneID:106736464 25326701|PMID:25326701 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25326701] 15q13.2 beta inversion proximal recombination region, recombines with the 15q13.2 beta inversion distal recombination region -chr15_KI270905v1_alt 2899879 2913681 non_allelic_homologous 0 + 2899879 2913681 160,82,45 recombination_feature 15q13 proximal microdeletion recombination region, recombines with the 15q13 distal microdeletion recombination region 106736480|GeneID:106736480 25326701|PMID:25326701 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:25326701] 15q13 proximal microdeletion recombination region, recombines with the 15q13 distal microdeletion recombination region -chr15_KI270905v1_alt 2910882 2911134 enhancer 0 + 2910882 2911134 0,128,128 enhancer 106783506|GeneID:106783506 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr15_KI270905v1_alt 2982459 2983968 non_allelic_homologous 0 + 2982459 2983968 160,82,45 recombination_feature sub-region 6, recombines with sub-region 6' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 6, recombines with sub-region 6' within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 2985718 2985916 non_allelic_homologous 0 + 2985718 2985916 160,82,45 recombination_feature sub-region 5, recombines with sub-region 5' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 5, recombines with sub-region 5' within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 2990805 2990850 non_allelic_homologous 0 + 2990805 2990850 160,82,45 recombination_feature sub-region 4, recombines with sub-region 4' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 4, recombines with sub-region 4' within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 2993576 2993717 non_allelic_homologous 0 + 2993576 2993717 160,82,45 recombination_feature sub-region 3, recombines with sub-region 3' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 3, recombines with sub-region 3' within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 2997280 2997377 non_allelic_homologous 0 + 2997280 2997377 160,82,45 recombination_feature sub-region 2, recombines with sub-region 2' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 2, recombines with sub-region 2' within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3009883 3010796 meiotic 0 + 3009883 3010796 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 106736476|GeneID:106736476,100288637|GeneID:100288637 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr15_KI270905v1_alt 3021102 3021903 meiotic 0 + 3021102 3021903 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 106736476|GeneID:106736476,100288637|GeneID:100288637 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr15_KI270905v1_alt 3021183 3021742 non_allelic_homologous 0 + 3021183 3021742 160,82,45 recombination_feature sub-region 1, recombines with sub-region 1' within the distal CHRNA7 low-copy repeat recombination region 106736476|GeneID:106736476,100288637|GeneID:100288637 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 1, recombines with sub-region 1' within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3589412 3593831 enhancer 0 + 3589412 3593831 0,128,128 enhancer VISTA enhancer hs2231 110121498|GeneID:110121498 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] VISTA enhancer hs2231 | enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] -chr15_KI270905v1_alt 3954576 3955679 meiotic 0 + 3954576 3955679 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 106736477|GeneID:106736477 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr15_KI270905v1_alt 3954884 3955443 non_allelic_homologous 0 + 3954884 3955443 160,82,45 recombination_feature sub-region 1', recombines with sub-region 1 within the proximal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 1', recombines with sub-region 1 within the proximal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3965676 3967051 meiotic 0 + 3965676 3967051 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 106736477|GeneID:106736477 25395542|PMID:25395542 DESCRIPTION:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr15_KI270905v1_alt 3979188 3979285 non_allelic_homologous 0 + 3979188 3979285 160,82,45 recombination_feature sub-region 2', recombines with sub-region 2 within the proximal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 2', recombines with sub-region 2 within the proximal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3982839 3982980 non_allelic_homologous 0 + 3982839 3982980 160,82,45 recombination_feature sub-region 3', recombines with sub-region 3 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 3', recombines with sub-region 3 within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3985704 3985751 non_allelic_homologous 0 + 3985704 3985751 160,82,45 recombination_feature sub-region 4', recombines with sub-region 4 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 4', recombines with sub-region 4 within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3990637 3990835 non_allelic_homologous 0 + 3990637 3990835 160,82,45 recombination_feature sub-region 5', recombines with sub-region 5 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139] sub-region 5', recombines with sub-region 5 within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 3992587 3994095 non_allelic_homologous 0 + 3992587 3994095 160,82,45 recombination_feature sub-region 6', recombines with sub-region 6 within the distal CHRNA7 low-copy repeat recombination region 106736477|GeneID:106736477 19898479|PMID:19898479,20506139|PMID:20506139 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20506139, PMID:19898479] sub-region 6', recombines with sub-region 6 within the distal CHRNA7 low-copy repeat recombination region -chr15_KI270905v1_alt 4809171 4831657 non_allelic_homologous 0 + 4809171 4831657 160,82,45 recombination_feature 15q13 distal microdeletion recombination region, recombines with the 15q13 proximal microdeletion recombination region 106736481|GeneID:106736481 25326701|PMID:25326701 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:25326701] 15q13 distal microdeletion recombination region, recombines with the 15q13 proximal microdeletion recombination region -chr16 87807 152854 locus_control_region 0 + 87807 152854 0,128,128 locus_control_region regulatory region from 0-65 kb upstream of the HBZ (hemoglobin, zeta) gene; 5' extent approximated based on the cNFG2 cosmid described in PMID:2253879 106144573|GeneID:106144573 1425590|PMID:1425590,2253879|PMID:2253879,17110138|PMID:17110138 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:2253879, PMID:1425590, PMID:17110138] regulatory region from 0-65 kb upstream of the HBZ (hemoglobin, zeta) gene; 5' extent approximated based on the cNFG2 cosmid described in PMID:2253879 -chr16 104621 105621 DNase_I_hypersensitive_site 0 + 104621 105621 0,128,128 region HS-48; erythroid-specific; the nucleotide coordinates are approximate for this feature 106144573|GeneID:106144573 15782197|PMID:15782197 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:15782197] HS-48; erythroid-specific; the nucleotide coordinates are approximate for this feature -chr16 105087 105155 conserved_region 0 + 105087 105155 192,0,192 sequence_feature conserved region; multispecies conserved sequence MCS-R1; overlaps HS-48 106144573|GeneID:106144573 15998734|PMID:15998734 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:15998734] conserved region; multispecies conserved sequence MCS-R1; overlaps HS-48 -chr16 106755 116059 enhancer 0 + 106755 116059 0,128,128 enhancer 9304 bp BglII fragment 10 (or 11 in reverse orientation) containing HS-40 106144573|GeneID:106144573 2253879|PMID:2253879 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:2253879] 9304 bp BglII fragment 10 (or 11 in reverse orientation) containing HS-40 -chr16 113493 113849 DNase_I_hypersensitive_site 0 + 113493 113849 0,128,128 region HS-40 major regulatory element; erythroid-specific; 356 bp core fragment from PMID:1875946; the nucleotide coordinates are approximate for this feature 106144573|GeneID:106144573 1875946|PMID:1875946,2253879|PMID:2253879 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2253879, PMID:1875946] major positive regulatory element (PRE) in stable transformants HS-40 major regulatory element; erythroid-specific; 356 bp core fragment from PMID:1875946; the nucleotide coordinates are approximate for this feature | major positive regulatory element (PRE) in stable transformants -chr16 113494 113844 enhancer 0 + 113494 113844 0,128,128 enhancer HS-40 350 bp Taq1-XmnI enhancer fragment 106144573|GeneID:106144573 1875946|PMID:1875946,8381311|PMID:8381311 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1875946, PMID:8381311] HS-40 350 bp Taq1-XmnI enhancer fragment -chr16 113504 113522 protein_bind: GATA binding protein 1 (globin transcription factor 1) 0 + 113504 113522 192,0,0 protein_binding_site HS-40 footprint I (FP-I) GATA-1-binding site 106144573|GeneID:106144573 1569944|PMID:1569944,1875946|PMID:1875946,7721747|PMID:7721747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1875946, PMID:7721747, PMID:1569944] HS-40 footprint I (FP-I) GATA-1-binding site | GATA binding protein 1 (globin transcription factor 1) -chr16 113507 113751 conserved_region 0 + 113507 113751 192,0,192 sequence_feature conserved region; multispecies conserved sequence MCS-R2; overlaps HS-40 106144573|GeneID:106144573 15998734|PMID:15998734 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:15998734] conserved region; multispecies conserved sequence MCS-R2; overlaps HS-40 -chr16 113597 113612 protein_bind: GATA binding protein 1 (globin transcription factor 1) 0 + 113597 113612 192,0,0 protein_binding_site HS-40 footprint IIa (FP-IIa) GATA-1-binding site 106144573|GeneID:106144573 1569944|PMID:1569944,1875946|PMID:1875946,7721747|PMID:7721747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1875946, PMID:7721747, PMID:1569944] HS-40 footprint IIa (FP-IIa) GATA-1-binding site | GATA binding protein 1 (globin transcription factor 1) -chr16 113611 113634 protein_bind: jun proto-oncogene, and nuclear factor, erythroid 2 0 + 113611 113634 192,0,0 protein_binding_site HS-40 footprint IIb (FP-IIb) AP-1/NF-E2-binding site 106144573|GeneID:106144573 1569944|PMID:1569944,1875946|PMID:1875946,7721747|PMID:7721747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1875946, PMID:7721747, PMID:1569944] HS-40 footprint IIb (FP-IIb) AP-1/NF-E2-binding site | jun proto-oncogene, and nuclear factor, erythroid 2 -chr16 113646 113668 protein_bind: jun proto-oncogene, and nuclear factor, erythroid 2 0 + 113646 113668 192,0,0 protein_binding_site HS-40 footprint IIIa (FP-IIIa) AP-1/NF-E2-binding site 106144573|GeneID:106144573 1569944|PMID:1569944,1875946|PMID:1875946,7721747|PMID:7721747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1875946, PMID:7721747, PMID:1569944] HS-40 footprint IIIa (FP-IIIa) AP-1/NF-E2-binding site | jun proto-oncogene, and nuclear factor, erythroid 2 -chr16 113704 113719 protein_bind: GATA binding protein 1 (globin transcription factor 1) 0 + 113704 113719 192,0,0 protein_binding_site HS-40 footprint IV (FP-IV) GATA-1-binding site 106144573|GeneID:106144573 1569944|PMID:1569944,1875946|PMID:1875946,7721747|PMID:7721747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1875946, PMID:7721747, PMID:1569944] HS-40 footprint IV (FP-IV) GATA-1-binding site | GATA binding protein 1 (globin transcription factor 1) -chr16 113738 113752 protein_bind: GATA binding protein 1 (globin transcription factor 1) 0 + 113738 113752 192,0,0 protein_binding_site HS-40 footprint V (FP-V) GATA-1-binding site 106144573|GeneID:106144573 1569944|PMID:1569944,1875946|PMID:1875946,7721747|PMID:7721747 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1875946, PMID:7721747, PMID:1569944] HS-40 footprint V (FP-V) GATA-1-binding site | GATA binding protein 1 (globin transcription factor 1) -chr16 119290 121419 DNase_I_hypersensitive_site 0 + 119290 121419 0,128,128 region HS-33; erythroid-specific; 2129 bp HincII-TaqI fragment; the nucleotide coordinates are approximate for this feature 106144573|GeneID:106144573 2253879|PMID:2253879 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2253879] HS-33; erythroid-specific; 2129 bp HincII-TaqI fragment; the nucleotide coordinates are approximate for this feature -chr16 119999 120250 conserved_region 0 + 119999 120250 192,0,192 sequence_feature conserved region; multispecies conserved sequence MCS-R3; overlaps HS-33 106144573|GeneID:106144573 15998734|PMID:15998734 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:15998734] conserved region; multispecies conserved sequence MCS-R3; overlaps HS-33 -chr16 142767 144772 DNase_I_hypersensitive_site 0 + 142767 144772 0,128,128 region includes HS-8 and HS-10; erythroid-specific; 2005 bp BamHI-BglII fragment; the nucleotide coordinates are approximate for this feature 106144573|GeneID:106144573,3050|GeneID:3050 15782197|PMID:15782197 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:15782197] includes HS-8 and HS-10; erythroid-specific; 2005 bp BamHI-BglII fragment; the nucleotide coordinates are approximate for this feature -chr16 143102 143248 conserved_region 0 + 143102 143248 192,0,192 sequence_feature conserved region; multispecies conserved sequence MCS-R4; overlaps HS-10 106144573|GeneID:106144573,3050|GeneID:3050 15998734|PMID:15998734 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:15998734] conserved region; multispecies conserved sequence MCS-R4; overlaps HS-10 -chr16 147853 148853 DNase_I_hypersensitive_site 0 + 147853 148853 0,128,128 region HS-4; the nucleotide coordinates are approximate for this feature 106144573|GeneID:106144573,3050|GeneID:3050 22955617|PMID:22955617 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:22955617] HS-4; the nucleotide coordinates are approximate for this feature -chr16 170361 170420 non_allelic_homologous 0 + 170361 170420 160,82,45 recombination_feature X2 box recombination sub-region, recombines with the X1 box recombination sub-region within the hemoglobin subunit alpha 1 recombination region 106804612|GeneID:106804612 14747441|PMID:14747441 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14747441] X2 box recombination sub-region, recombines with the X1 box recombination sub-region within the hemoglobin subunit alpha 1 recombination region -chr16 171842 171881 non_allelic_homologous 0 + 171842 171881 160,82,45 recombination_feature Y2 box recombination sub-region a, recombines with the Y1 box recombination sub-region a within the hemoglobin subunit alpha 1 recombination region 106804612|GeneID:106804612 17573529|PMID:17573529 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:17573529] Y2 box recombination sub-region a, recombines with the Y1 box recombination sub-region a within the hemoglobin subunit alpha 1 recombination region -chr16 171891 171916 non_allelic_homologous 0 + 171891 171916 160,82,45 recombination_feature Y2 box recombination sub-region b, recombines with the Y1 box recombination sub-region b within the hemoglobin subunit alpha 1 recombination region 106804612|GeneID:106804612 17573529|PMID:17573529 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:17573529] Y2 box recombination sub-region b, recombines with the Y1 box recombination sub-region b within the hemoglobin subunit alpha 1 recombination region -chr16 172843 173443 non_allelic_homologous 0 + 172843 173443 160,82,45 recombination_feature Z2 box recombination sub-region I, recombines with the Z1 box recombination sub-region I within the hemoglobin subunit alpha 1 recombination region 106804612|GeneID:106804612 6091047|PMID:6091047 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:6091047] Z2 box recombination sub-region I, recombines with the Z1 box recombination sub-region I within the hemoglobin subunit alpha 1 recombination region -chr16 173440 173616 non_allelic_homologous 0 + 173440 173616 160,82,45 recombination_feature Z2 box recombination sub-region II, recombines with the Z1 box recombination sub-region II within the hemoglobin subunit alpha 1 recombination region 106804612|GeneID:106804612,3040|GeneID:3040 6091047|PMID:6091047 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:6091047] Z2 box recombination sub-region II, recombines with the Z1 box recombination sub-region II within the hemoglobin subunit alpha 1 recombination region -chr16 173646 173729 non_allelic_homologous 0 + 173646 173729 160,82,45 recombination_feature Z2 box recombination sub-region III, recombines with the Z1 box recombination sub-region III within the hemoglobin subunit alpha 1 recombination region 106804612|GeneID:106804612 6091047|PMID:6091047 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:6091047] Z2 box recombination sub-region III, recombines with the Z1 box recombination sub-region III within the hemoglobin subunit alpha 1 recombination region -chr16 174617 174675 non_allelic_homologous 0 + 174617 174675 160,82,45 recombination_feature X1 box recombination sub-region, recombines with the X2 box recombination sub-region within the hemoglobin subunit alpha 2 recombination region 106804613|GeneID:106804613 14747441|PMID:14747441 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14747441] X1 box recombination sub-region, recombines with the X2 box recombination sub-region within the hemoglobin subunit alpha 2 recombination region -chr16 175399 175438 non_allelic_homologous 0 + 175399 175438 160,82,45 recombination_feature Y1 box recombination sub-region a, recombines with the Y2 box recombination sub-region a within the hemoglobin subunit alpha 2 recombination region 106804613|GeneID:106804613 17573529|PMID:17573529 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:17573529] Y1 box recombination sub-region a, recombines with the Y2 box recombination sub-region a within the hemoglobin subunit alpha 2 recombination region -chr16 175445 175470 non_allelic_homologous 0 + 175445 175470 160,82,45 recombination_feature Y1 box recombination sub-region b, recombines with the Y2 box recombination sub-region b within the hemoglobin subunit alpha 2 recombination region 106804613|GeneID:106804613 17573529|PMID:17573529 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:17573529] Y1 box recombination sub-region b, recombines with the Y2 box recombination sub-region b within the hemoglobin subunit alpha 2 recombination region -chr16 175794 177251 non_allelic_homologous 0 + 175794 177251 160,82,45 recombination_feature Z1 box recombination sub-region I, recombines with the Z2 box recombination sub-region I within the hemoglobin subunit alpha 2 recombination region 106804613|GeneID:106804613 6091047|PMID:6091047 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:6091047] Z1 box recombination sub-region I, recombines with the Z2 box recombination sub-region I within the hemoglobin subunit alpha 2 recombination region -chr16 177251 177427 non_allelic_homologous 0 + 177251 177427 160,82,45 recombination_feature Z1 box recombination sub-region II, recombines with the Z2 box recombination sub-region II within the hemoglobin subunit alpha 2 recombination region 106804613|GeneID:106804613,3039|GeneID:3039 6091047|PMID:6091047 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:6091047] Z1 box recombination sub-region II, recombines with the Z2 box recombination sub-region II within the hemoglobin subunit alpha 2 recombination region -chr16 177457 177541 non_allelic_homologous 0 + 177457 177541 160,82,45 recombination_feature Z1 box recombination sub-region III, recombines with the Z2 box recombination sub-region III within the hemoglobin subunit alpha 2 recombination region 106804613|GeneID:106804613 6091047|PMID:6091047 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:6091047] Z1 box recombination sub-region III, recombines with the Z2 box recombination sub-region III within the hemoglobin subunit alpha 2 recombination region -chr16 1421036 1421439 enhancer 0 + 1421036 1421439 0,128,128 enhancer 106799915|GeneID:106799915 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr16 2424578 2424691 enhancer 0 + 2424578 2424691 0,128,128 enhancer 106783500|GeneID:106783500,650655|GeneID:650655 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr16 6095848 6099091 meiotic 0 + 6095848 6099091 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107522031|GeneID:107522031,54715|GeneID:54715 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr16 6096117 6098196 meiotic 0 + 6096117 6098196 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107522031|GeneID:107522031,54715|GeneID:54715 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr16 6096258 6097644 meiotic 0 + 6096258 6097644 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107522031|GeneID:107522031,54715|GeneID:54715 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr16 6096398 6097998 meiotic 0 + 6096398 6097998 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with PRDM9 A or B alleles, and little recombination in some individuals with other PRDM9 alleles 107522031|GeneID:107522031,54715|GeneID:54715 20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with PRDM9 A or B alleles, and little recombination in some individuals with other PRDM9 alleles -chr16 6096459 6096472 nucleotide_motif 0 + 6096459 6096472 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522031|GeneID:107522031,54715|GeneID:54715 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr16 6097070 6097083 nucleotide_motif 0 + 6097070 6097083 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522031|GeneID:107522031,54715|GeneID:54715 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr16 6097205 6097218 nucleotide_motif 0 + 6097205 6097218 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522031|GeneID:107522031,54715|GeneID:54715 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr16 6097313 6097326 nucleotide_motif 0 + 6097313 6097326 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522031|GeneID:107522031,54715|GeneID:54715 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr16 6098089 6098102 nucleotide_motif 0 + 6098089 6098102 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522031|GeneID:107522031,54715|GeneID:54715 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr16 10225971 10227019 enhancer 0 + 10225971 10227019 0,128,128 enhancer VISTA enhancer hs1242 110121335|GeneID:110121335 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/12] | hindbrain (rhombencephalon)[4/12] VISTA enhancer hs1242 | enhancer in: neural tube[4/12] | hindbrain (rhombencephalon)[4/12] -chr16 11681218 11681575 enhancer 0 + 11681218 11681575 0,128,128 enhancer 106799840|GeneID:106799840 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr16 29186702 29187297 DNase_I_hypersensitive_site 0 + 29186702 29187297 0,128,128 region region containing the chr16.2832 DHS; the nucleotide coordinates are approximate for this feature 108281183|GeneID:108281183,107984832|GeneID:107984832 22955617|PMID:22955617 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:22955617] region containing the chr16.2832 DHS; the nucleotide coordinates are approximate for this feature -chr16 29186702 29187297 enhancer 0 + 29186702 29187297 0,128,128 enhancer amplified fragment containing the chr16.2832 DHS 108281183|GeneID:108281183,107984832|GeneID:107984832 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr16.2832 DHS | nontranscribed enhancer in HeLa cells -chr16 48878904 48880233 enhancer 0 + 48878904 48880233 0,128,128 enhancer VISTA enhancer hs101 110120823|GeneID:110120823 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/3] VISTA enhancer hs101 | enhancer in: hindbrain (rhombencephalon)[3/3] -chr16 49060554 49061331 enhancer 0 + 49060554 49061331 0,128,128 enhancer VISTA enhancer hs124 110120826|GeneID:110120826 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/9] VISTA enhancer hs124 | enhancer in: neural tube[9/9] -chr16 49701187 49702538 enhancer 0 + 49701187 49702538 0,128,128 enhancer VISTA enhancer hs625 110120912|GeneID:110120912 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/6] | forebrain[3/6] VISTA enhancer hs625 | enhancer in: hindbrain (rhombencephalon)[3/6] | forebrain[3/6] -chr16 50835780 50837187 enhancer 0 + 50835780 50837187 0,128,128 enhancer VISTA enhancer hs162 110120841|GeneID:110120841 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[4/8] VISTA enhancer hs162 | enhancer in: eye[4/8] -chr16 51022399 51023681 enhancer 0 + 51022399 51023681 0,128,128 enhancer VISTA enhancer hs79 110120588|GeneID:110120588,101927334|GeneID:101927334 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/13] | hindbrain (rhombencephalon)[10/13] | midbrain (mesencephalon)[13/13] VISTA enhancer hs79 | enhancer in: neural tube[8/13] | hindbrain (rhombencephalon)[10/13] | midbrain (mesencephalon)[13/13] -chr16 51113100 51114731 enhancer 0 + 51113100 51114731 0,128,128 enhancer VISTA enhancer hs152 110120836|GeneID:110120836 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] VISTA enhancer hs152 | enhancer in: neural tube[5/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] -chr16 51197209 51198451 enhancer 0 + 51197209 51198451 0,128,128 enhancer VISTA enhancer hs76 110120587|GeneID:110120587 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/6] | midbrain (mesencephalon)[3/6] VISTA enhancer hs76 | enhancer in: neural tube[3/6] | midbrain (mesencephalon)[3/6] -chr16 51457887 51459114 enhancer 0 + 51457887 51459114 0,128,128 enhancer VISTA enhancer hs848 110120939|GeneID:110120939 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/9] | hindbrain (rhombencephalon)[6/9] | forebrain[7/9] VISTA enhancer hs848 | enhancer in: neural tube[8/9] | hindbrain (rhombencephalon)[6/9] | forebrain[7/9] -chr16 51526284 51527014 enhancer 0 + 51526284 51527014 0,128,128 enhancer VISTA enhancer hs74 110120586|GeneID:110120586 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/12] | midbrain (mesencephalon)[6/12] VISTA enhancer hs74 | enhancer in: neural tube[4/12] | midbrain (mesencephalon)[6/12] -chr16 51542813 51544190 enhancer 0 + 51542813 51544190 0,128,128 enhancer VISTA enhancer hs73 110120585|GeneID:110120585 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/9] VISTA enhancer hs73 | enhancer in: neural tube[7/9] -chr16 51623898 51624805 enhancer 0 + 51623898 51624805 0,128,128 enhancer VISTA enhancer hs72 110120584|GeneID:110120584 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/6] VISTA enhancer hs72 | enhancer in: limb[6/6] -chr16 51637269 51638128 enhancer 0 + 51637269 51638128 0,128,128 enhancer VISTA enhancer hs71 110120583|GeneID:110120583 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] VISTA enhancer hs71 | enhancer in: forebrain[4/6] -chr16 51924375 51925776 enhancer 0 + 51924375 51925776 0,128,128 enhancer VISTA enhancer hs65 110120582|GeneID:110120582 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[6/8] VISTA enhancer hs65 | enhancer in: somite[6/8] -chr16 52412137 52413325 enhancer 0 + 52412137 52413325 0,128,128 enhancer VISTA enhancer hs161 110120840|GeneID:110120840 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/4] VISTA enhancer hs161 | enhancer in: hindbrain (rhombencephalon)[3/4] -chr16 52434616 52437850 enhancer 0 + 52434616 52437850 0,128,128 enhancer VISTA enhancer hs1300 110121339|GeneID:110121339 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[11/14] | hindbrain (rhombencephalon)[11/14] | midbrain (mesencephalon)[11/14] | dorsal root ganglion[9/14] | forebrain[11/14] | limb[9/14] | trigeminal V (ganglion, cranial)[8/14] | cranial nerve[9/14] VISTA enhancer hs1300 | enhancer in: neural tube[11/14] | hindbrain (rhombencephalon)[11/14] | midbrain (mesencephalon)[11/14] | dorsal root ganglion[9/14] | forebrain[11/14] | limb[9/14] | trigeminal V (ganglion, cranial)[8/14] | cranial nerve[9/14] -chr16 53692403 53693644 enhancer 0 + 53692403 53693644 0,128,128 enhancer VISTA enhancer hs59 110120581|GeneID:110120581 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[8/8] | eye[8/8] | nose[8/8] VISTA enhancer hs59 | enhancer in: branchial arch[8/8] | eye[8/8] | nose[8/8] -chr16 53914288 53915934 enhancer 0 + 53914288 53915934 0,128,128 enhancer VISTA enhancer hs155 110120837|GeneID:110120837,79068|GeneID:79068 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/5] VISTA enhancer hs155 | enhancer in: hindbrain (rhombencephalon)[3/5] -chr16 53952717 53954281 enhancer 0 + 53952717 53954281 0,128,128 enhancer VISTA enhancer hs157 110120839|GeneID:110120839,79068|GeneID:79068 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[4/10] VISTA enhancer hs157 | enhancer in: eye[4/10] -chr16 53960145 53962031 enhancer 0 + 53960145 53962031 0,128,128 enhancer VISTA enhancer hs156 110120838|GeneID:110120838,79068|GeneID:79068 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/5] | nose[4/5] VISTA enhancer hs156 | enhancer in: branchial arch[4/5] | nose[4/5] -chr16 54109941 54110955 enhancer 0 + 54109941 54110955 0,128,128 enhancer VISTA enhancer hs52 110120580|GeneID:110120580,79068|GeneID:79068 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[3/5] | trigeminal V (ganglion, cranial)[3/5] VISTA enhancer hs52 | enhancer in: dorsal root ganglion[3/5] | trigeminal V (ganglion, cranial)[3/5] -chr16 54289507 54290424 enhancer 0 + 54289507 54290424 0,128,128 enhancer VISTA enhancer hs51 110120579|GeneID:110120579 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/5] VISTA enhancer hs51 | enhancer in: dorsal root ganglion[5/5] -chr16 54541965 54544013 enhancer 0 + 54541965 54544013 0,128,128 enhancer VISTA enhancer hs43 110120578|GeneID:110120578 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/6] | nose[5/6] | tail[5/6] VISTA enhancer hs43 | enhancer in: midbrain (mesencephalon)[6/6] | nose[5/6] | tail[5/6] -chr16 54616685 54617970 enhancer 0 + 54616685 54617970 0,128,128 enhancer VISTA enhancer hs37 110120577|GeneID:110120577 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/5] VISTA enhancer hs37 | enhancer in: forebrain[5/5] -chr16 55045324 55046517 enhancer 0 + 55045324 55046517 0,128,128 enhancer VISTA enhancer hs27 110120576|GeneID:110120576 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/6] | eye[4/6] VISTA enhancer hs27 | enhancer in: limb[4/6] | eye[4/6] -chr16 55189272 55190371 enhancer 0 + 55189272 55190371 0,128,128 enhancer VISTA enhancer hs26 110120575|GeneID:110120575 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/7] | midbrain (mesencephalon)[3/7] | eye[3/7] VISTA enhancer hs26 | enhancer in: neural tube[3/7] | midbrain (mesencephalon)[3/7] | eye[3/7] -chr16 55295376 55296848 enhancer 0 + 55295376 55296848 0,128,128 enhancer VISTA enhancer hs151 110120835|GeneID:110120835 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[8/12] VISTA enhancer hs151 | enhancer in: dorsal root ganglion[8/12] -chr16 55390503 55391826 enhancer 0 + 55390503 55391826 0,128,128 enhancer VISTA enhancer hs23 110120574|GeneID:110120574 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/11] | hindbrain (rhombencephalon)[8/11] VISTA enhancer hs23 | enhancer in: neural tube[8/11] | hindbrain (rhombencephalon)[8/11] -chr16 61023613 61025721 enhancer 0 + 61023613 61025721 0,128,128 enhancer VISTA enhancer hs1383 110121356|GeneID:110121356 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[11/11] VISTA enhancer hs1383 | enhancer in: forebrain[11/11] -chr16 65321662 65323807 tandem 0 + 65321662 65323807 0,0,192 repeat_region 109611591|GeneID:109611591 repeat_region -chr16 65322769 65322998 repeat_instability_region 0 + 65322769 65322998 192,0,192 sequence_feature repeat instability region; expansion of the 33 nt AT-rich repeat results in chromosome fragility at this site 109611591|GeneID:109611591 9039263|PMID:9039263 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9039263] repeat instability region; expansion of the 33 nt AT-rich repeat results in chromosome fragility at this site -chr16 66903172 66905657 enhancer 0 + 66903172 66905657 0,128,128 enhancer VISTA enhancer hs1760 110121443|GeneID:110121443 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[14/14] VISTA enhancer hs1760 | enhancer in: heart[14/14] -chr16 72220666 72221926 enhancer 0 + 72220666 72221926 0,128,128 enhancer VISTA enhancer hs22 110120573|GeneID:110120573 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/7] VISTA enhancer hs22 | enhancer in: forebrain[7/7] -chr16 72370633 72373692 enhancer 0 + 72370633 72373692 0,128,128 enhancer VISTA enhancer hs108 110120824|GeneID:110120824 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/4] VISTA enhancer hs108 | enhancer in: limb[4/4] -chr16 72704668 72706250 enhancer 0 + 72704668 72706250 0,128,128 enhancer VISTA enhancer hs20 110120572|GeneID:110120572,107984814|GeneID:107984814 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/11] | midbrain (mesencephalon)[8/11] VISTA enhancer hs20 | enhancer in: hindbrain (rhombencephalon)[4/11] | midbrain (mesencephalon)[8/11] -chr16 72947000 72948646 enhancer 0 + 72947000 72948646 0,128,128 enhancer VISTA enhancer hs16 110120571|GeneID:110120571 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: mesenchyme derived from neural crest[6/6] VISTA enhancer hs16 | enhancer in: mesenchyme derived from neural crest[6/6] -chr16 73124101 73124601 enhancer 0 + 73124101 73124601 0,128,128 enhancer amplified fragment containing the chr16:73158236-73158440 (GRCh37) CAGE region 108251797|GeneID:108251797 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr16:73158236-73158440 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr16 73124336 73124541 CAGE_cluster 0 + 73124336 73124541 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251797|GeneID:108251797 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr16 73328909 73330393 enhancer 0 + 73328909 73330393 0,128,128 enhancer VISTA enhancer hs1724 110121436|GeneID:110121436 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/7] | forebrain[5/7] VISTA enhancer hs1724 | enhancer in: midbrain (mesencephalon)[5/7] | forebrain[5/7] -chr16 73791293 73794667 enhancer 0 + 73791293 73794667 0,128,128 enhancer VISTA enhancer hs1612 110121410|GeneID:110121410 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[4/4] | limb[4/4] | branchial arch[4/4] | facial mesenchyme[4/4] VISTA enhancer hs1612 | enhancer in: somite[4/4] | limb[4/4] | branchial arch[4/4] | facial mesenchyme[4/4] -chr16 75376606 75377104 enhancer 0 + 75376606 75377104 0,128,128 enhancer amplified fragment containing the chr16:75410566-75410863 (GRCh37) CAGE region 108254672|GeneID:108254672 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr16:75410566-75410863 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr16 75376667 75376965 CAGE_cluster 0 + 75376667 75376965 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254672|GeneID:108254672 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr16 78476710 78478047 enhancer 0 + 78476710 78478047 0,128,128 enhancer VISTA enhancer hs12 110120570|GeneID:110120570,51741|GeneID:51741 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/11] | forebrain[9/11] VISTA enhancer hs12 | enhancer in: hindbrain (rhombencephalon)[9/11] | forebrain[9/11] -chr16 80338695 80339858 enhancer 0 + 80338695 80339858 0,128,128 enhancer VISTA enhancer hs4 110120569|GeneID:110120569 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/10] | hindbrain (rhombencephalon)[10/10] | midbrain (mesencephalon)[10/10] VISTA enhancer hs4 | enhancer in: neural tube[6/10] | hindbrain (rhombencephalon)[10/10] | midbrain (mesencephalon)[10/10] -chr16 82734003 82736442 enhancer 0 + 82734003 82736442 0,128,128 enhancer VISTA enhancer hs1959 110121468|GeneID:110121468,1012|GeneID:1012 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/7] VISTA enhancer hs1959 | enhancer in: heart[7/7] -chr16 86383802 86384362 enhancer 0 + 86383802 86384362 0,128,128 enhancer amplified fragment containing the chr16:86417419-86417805 (GRCh37) CAGE region 108281164|GeneID:108281164 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr16:86417419-86417805 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr16 86383812 86384199 CAGE_cluster 0 + 86383812 86384199 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281164|GeneID:108281164 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr16 86396480 86397120 enhancer 0 + 86396480 86397120 0,128,128 enhancer VISTA enhancer hs1 105943583|GeneID:105943583 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[12/12] | hindbrain (rhombencephalon)[12/12] | limb[3/12] | cranial nerve[8/12] VISTA enhancer hs1 | enhancer in: neural tube[12/12] | hindbrain (rhombencephalon)[12/12] | limb[3/12] | cranial nerve[8/12] -chr16 86909760 86912569 enhancer 0 + 86909760 86912569 0,128,128 enhancer VISTA enhancer hs1613 110121411|GeneID:110121411 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/6] VISTA enhancer hs1613 | enhancer in: limb[5/6] -chr16 87604282 87604329 tandem 0 + 87604282 87604329 0,0,192 repeat_region 109029536|GeneID:109029536,57338|GeneID:57338 repeat_region -chr16 87604287 87604329 repeat_instability_region 0 + 87604287 87604329 192,0,192 sequence_feature repeat instability region; expansion of the CTG (CAG on opposite strand) trinucleotide repeat is associated with Huntington disease-like 2 (HDL2) 109029536|GeneID:109029536,57338|GeneID:57338 11694876|PMID:11694876 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:11694876] repeat instability region; expansion of the CTG (CAG on opposite strand) trinucleotide repeat is associated with Huntington disease-like 2 (HDL2) -chr16 88990988 88994615 enhancer 0 + 88990988 88994615 0,128,128 enhancer VISTA enhancer hs1854 110121450|GeneID:110121450 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/8] VISTA enhancer hs1854 | enhancer in: heart[7/8] -chr17 2176477 2177942 enhancer 0 + 2176477 2177942 0,128,128 enhancer VISTA enhancer hs1445 110121369|GeneID:110121369 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/10] VISTA enhancer hs1445 | enhancer in: limb[10/10] -chr17 2178703 2180995 enhancer 0 + 2178703 2180995 0,128,128 enhancer VISTA enhancer hs924 110120951|GeneID:110120951 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[5/13] VISTA enhancer hs924 | enhancer in: other[5/13] -chr17 2214951 2215800 enhancer 0 + 2214951 2215800 0,128,128 enhancer heart enhancer 8 107988047|GeneID:107988047 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 8 | enhancer in heart -chr17 3795491 3796879 enhancer 0 + 3795491 3796879 0,128,128 enhancer 106799838|GeneID:106799838 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr17 8199935 8200425 enhancer 0 + 8199935 8200425 0,128,128 enhancer 106794092|GeneID:106794092 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr17 9784380 9784972 enhancer 0 + 9784380 9784972 0,128,128 enhancer amplified fragment containing the chr17:9688019-9688182 (GRCh37) CAGE region 108254670|GeneID:108254670 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr17:9688019-9688182 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr17 9784701 9784865 CAGE_cluster 0 + 9784701 9784865 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254670|GeneID:108254670 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr17 13112329 13115142 enhancer 0 + 13112329 13115142 0,128,128 enhancer VISTA enhancer hs1497 110121380|GeneID:110121380 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[3/5] VISTA enhancer hs1497 | enhancer in: facial mesenchyme[3/5] -chr17 14170533 14179634 non_allelic_homologous 0 + 14170533 14179634 160,82,45 recombination_feature sub-region Zone 2, recombines with sub-region Zone 2' within the proximal CMT1A-REP 105943586|GeneID:105943586,1352|GeneID:1352 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 2, recombines with sub-region Zone 2' within the proximal CMT1A-REP -chr17 14179818 14184470 non_allelic_homologous 0 + 14179818 14184470 160,82,45 recombination_feature sub-region Zone 3, recombines with sub-region Zone 3' within the proximal CMT1A-REP 105943586|GeneID:105943586,1352|GeneID:1352 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 3, recombines with sub-region Zone 3' within the proximal CMT1A-REP -chr17 14184470 14187746 non_allelic_homologous 0 + 14184470 14187746 160,82,45 recombination_feature sub-region Zone 1, recombines with sub-region Zone 1' within the proximal CMT1A-REP 105943586|GeneID:105943586,1352|GeneID:1352 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 1, recombines with sub-region Zone 1' within the proximal CMT1A-REP -chr17 14185952 14186753 meiotic 0 + 14185952 14186753 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individual with the PRDM9 A/A genotype 105943586|GeneID:105943586,1352|GeneID:1352 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individual with the PRDM9 A/A genotype -chr17 14186096 14186654 non_allelic_homologous 0 + 14186096 14186654 160,82,45 recombination_feature Zone 1 hotspot, recombines with Zone 1' hotspot within the proximal CMT1A-REP 105943586|GeneID:105943586,1352|GeneID:1352 9545397|PMID:9545397 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9545397] Zone 1 hotspot, recombines with Zone 1' hotspot within the proximal CMT1A-REP -chr17 14186363 14186379 nucleotide_motif 0 + 14186363 14186379 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 105943586|GeneID:105943586,1352|GeneID:1352 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 14186412 14186425 nucleotide_motif 0 + 14186412 14186425 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 105943586|GeneID:105943586,1352|GeneID:1352 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 14187746 14194724 non_allelic_homologous 0 + 14187746 14194724 160,82,45 recombination_feature sub-region Zone 4, recombines with sub-region Zone 4' within the proximal CMT1A-REP 105943586|GeneID:105943586,1352|GeneID:1352 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 4, recombines with sub-region Zone 4' within the proximal CMT1A-REP -chr17 15567584 15576522 non_allelic_homologous 0 + 15567584 15576522 160,82,45 recombination_feature sub-region Zone 2', recombines with sub-region Zone 2 within the distal CMT1A-REP 105943587|GeneID:105943587 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 2', recombines with sub-region Zone 2 within the distal CMT1A-REP -chr17 15576706 15581343 non_allelic_homologous 0 + 15576706 15581343 160,82,45 recombination_feature sub-region Zone 3', recombines with sub-region Zone 3 within the distal CMT1A-REP 105943587|GeneID:105943587 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 3', recombines with sub-region Zone 3 within the distal CMT1A-REP -chr17 15581343 15584612 non_allelic_homologous 0 + 15581343 15584612 160,82,45 recombination_feature sub-region Zone 1', recombines with sub-region Zone 1 within the distal CMT1A-REP 105943587|GeneID:105943587 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 1', recombines with sub-region Zone 1 within the distal CMT1A-REP -chr17 15582839 15583890 meiotic 0 + 15582839 15583890 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individual with the PRDM9 A/A genotype 105943587|GeneID:105943587 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individual with the PRDM9 A/A genotype -chr17 15582971 15583529 non_allelic_homologous 0 + 15582971 15583529 160,82,45 recombination_feature Zone 1' hotspot, recombines with Zone 1 hotspot within the distal CMT1A-REP 105943587|GeneID:105943587 9545397|PMID:9545397 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9545397] Zone 1' hotspot, recombines with Zone 1 hotspot within the distal CMT1A-REP -chr17 15583238 15583254 nucleotide_motif 0 + 15583238 15583254 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 105943587|GeneID:105943587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 15583287 15583300 nucleotide_motif 0 + 15583287 15583300 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 105943587|GeneID:105943587 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 15584612 15591587 non_allelic_homologous 0 + 15584612 15591587 160,82,45 recombination_feature sub-region Zone 4', recombines with sub-region Zone 4 within the distal CMT1A-REP 105943587|GeneID:105943587 8651299|PMID:8651299 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:8651299] sub-region Zone 4', recombines with sub-region Zone 4 within the distal CMT1A-REP -chr17 15843796 15844322 non_allelic_homologous 0 + 15843796 15844322 160,82,45 recombination_feature LCR17pA recombination region, recombines with the LCR17pD recombination region 106020711|GeneID:106020711 12649807|PMID:12649807 EXISTENCE:fluorescence in situ hybridization evidence [ECO:0001047][PMID:12649807] LCR17pA recombination region, recombines with the LCR17pD recombination region -chr17 15844141 15844274 SINE:AluSz6 0 + 15844141 15844274 0,0,192 mobile_genetic_element direction; forward 106020711|GeneID:106020711 direction; forward -chr17 16808918 16810023 non_allelic_homologous 0 + 16808918 16810023 160,82,45 recombination_feature recombines with the proximal SMS-REP block A recombination region 108745275|GeneID:108745275 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] recombines with the proximal SMS-REP block A recombination region -chr17 16843043 16843262 non_allelic_homologous 0 + 16843043 16843262 160,82,45 recombination_feature sub-region 1, recombines with sub-region 1' within the proximal SMS-REP block C recombination region 106020709|GeneID:106020709 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 1, recombines with sub-region 1' within the proximal SMS-REP block C recombination region -chr17 16844836 16846492 non_allelic_homologous 0 + 16844836 16846492 160,82,45 recombination_feature sub-region 2, recombines with sub-region 2' within the proximal SMS-REP block C recombination region 106020709|GeneID:106020709 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 2, recombines with sub-region 2' within the proximal SMS-REP block C recombination region -chr17 16845326 16846560 meiotic 0 + 16845326 16846560 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes 106020709|GeneID:106020709 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes -chr17 16845807 16845820 nucleotide_motif 0 + 16845807 16845820 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106020709|GeneID:106020709 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 16845947 16845963 nucleotide_motif 0 + 16845947 16845963 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106020709|GeneID:106020709 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 16847543 16849778 non_allelic_homologous 0 + 16847543 16849778 160,82,45 recombination_feature sub-region 3, recombines with sub-region 3' within the proximal SMS-REP block C recombination region 106020709|GeneID:106020709 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 3, recombines with sub-region 3' within the proximal SMS-REP block C recombination region -chr17 16848055 16849149 meiotic 0 + 16848055 16849149 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes 106020709|GeneID:106020709 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes -chr17 16848595 16848611 nucleotide_motif 0 + 16848595 16848611 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106020709|GeneID:106020709 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 16848882 16848895 nucleotide_motif 0 + 16848882 16848895 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106020709|GeneID:106020709 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 16850818 16850881 non_allelic_homologous 0 + 16850818 16850881 160,82,45 recombination_feature sub-region 4, recombines with sub-region 4' within the proximal SMS-REP block C recombination region 106020709|GeneID:106020709 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 4, recombines with sub-region 4' within the proximal SMS-REP block C recombination region -chr17 17535871 17540873 enhancer 0 + 17535871 17540873 0,128,128 enhancer VISTA enhancer hs1917 110121461|GeneID:110121461 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[5/6] VISTA enhancer hs1917 | enhancer in: other[5/6] -chr17 20437506 20438611 non_allelic_homologous 0 + 20437506 20438611 160,82,45 recombination_feature recombines with the distal SMS-REP block A recombination region 108745276|GeneID:108745276,339256|GeneID:339256 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] recombines with the distal SMS-REP block A recombination region -chr17 20514710 20514929 non_allelic_homologous 0 + 20514710 20514929 160,82,45 recombination_feature sub-region 1', recombines with sub-region 1 within the distal SMS-REP block C recombination region 106020710|GeneID:106020710 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 1', recombines with sub-region 1 within the distal SMS-REP block C recombination region -chr17 20516503 20518156 non_allelic_homologous 0 + 20516503 20518156 160,82,45 recombination_feature sub-region 2', recombines with sub-region 2 within the distal SMS-REP block C recombination region 106020710|GeneID:106020710 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 2', recombines with sub-region 2 within the distal SMS-REP block C recombination region -chr17 20519218 20521453 non_allelic_homologous 0 + 20519218 20521453 160,82,45 recombination_feature sub-region 3', recombines with sub-region 3 within the distal SMS-REP block C recombination region 106020710|GeneID:106020710 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 3', recombines with sub-region 3 within the distal SMS-REP block C recombination region -chr17 20522493 20522556 non_allelic_homologous 0 + 20522493 20522556 160,82,45 recombination_feature sub-region 4', recombines with sub-region 4 within the distal SMS-REP block C recombination region 106020710|GeneID:106020710 14639526|PMID:14639526 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14639526] sub-region 4', recombines with sub-region 4 within the distal SMS-REP block C recombination region -chr17 20661308 20662533 meiotic 0 + 20661308 20662533 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes 106020712|GeneID:106020712 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes -chr17 20661401 20661927 non_allelic_homologous 0 + 20661401 20661927 160,82,45 recombination_feature LCR17pD recombination region, recombines with the LCR17pA recombination region 106020712|GeneID:106020712 15148657|PMID:15148657 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:15148657] LCR17pD recombination region, recombines with the LCR17pA recombination region -chr17 20661746 20661879 SINE:AluSz6 0 + 20661746 20661879 0,0,192 mobile_genetic_element direction; forward 106020712|GeneID:106020712 direction; forward -chr17 20661788 20661801 nucleotide_motif 0 + 20661788 20661801 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106020712|GeneID:106020712 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 29667683 29669856 enhancer 0 + 29667683 29669856 0,128,128 enhancer VISTA enhancer hs1675 110121426|GeneID:110121426 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/10] VISTA enhancer hs1675 | enhancer in: heart[8/10] -chr17 30627077 30627162 non_allelic_homologous 0 + 30627077 30627162 160,82,45 recombination_feature recombines with the NF1-REPc UWA160-1 recombination region 108771183|GeneID:108771183,107133515|GeneID:107133515 15236313|PMID:15236313 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15236313] recombines with the NF1-REPc UWA160-1 recombination region -chr17 30646571 30646722 non_allelic_homologous 0 + 30646571 30646722 160,82,45 recombination_feature sub-region SER1, recombines with sub-region SER1' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER1, recombines with sub-region SER1' within the NF1-REPc PRS1 recombination region -chr17 30646966 30647116 non_allelic_homologous 0 + 30646966 30647116 160,82,45 recombination_feature sub-region SER2, recombines with sub-region SER2' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER2, recombines with sub-region SER2' within the NF1-REPc PRS1 recombination region -chr17 30646975 30646991 nucleotide_motif 0 + 30646975 30646991 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106113036|GeneID:106113036 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30647115 30647376 non_allelic_homologous 0 + 30647115 30647376 160,82,45 recombination_feature sub-region SER3, recombines with sub-region SER3' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER3, recombines with sub-region SER3' within the NF1-REPc PRS1 recombination region -chr17 30647733 30648061 non_allelic_homologous 0 + 30647733 30648061 160,82,45 recombination_feature sub-region SER4, recombines with sub-region SER4' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER4, recombines with sub-region SER4' within the NF1-REPc PRS1 recombination region -chr17 30648060 30648401 non_allelic_homologous 0 + 30648060 30648401 160,82,45 recombination_feature sub-region SER5, recombines with sub-region SER5' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER5, recombines with sub-region SER5' within the NF1-REPc PRS1 recombination region -chr17 30648431 30648489 non_allelic_homologous 0 + 30648431 30648489 160,82,45 recombination_feature sub-region SER6, recombines with sub-region SER6' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER6, recombines with sub-region SER6' within the NF1-REPc PRS1 recombination region -chr17 30648455 30648471 nucleotide_motif 0 + 30648455 30648471 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106113036|GeneID:106113036,105371723|GeneID:105371723 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30648501 30648760 non_allelic_homologous 0 + 30648501 30648760 160,82,45 recombination_feature sub-region SER7, recombines with sub-region SER7' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER7, recombines with sub-region SER7' within the NF1-REPc PRS1 recombination region -chr17 30648938 30649071 non_allelic_homologous 0 + 30648938 30649071 160,82,45 recombination_feature sub-region SER8, recombines with sub-region SER8' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER8, recombines with sub-region SER8' within the NF1-REPc PRS1 recombination region -chr17 30649448 30649497 non_allelic_homologous 0 + 30649448 30649497 160,82,45 recombination_feature sub-region SER9, recombines with sub-region SER9' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER9, recombines with sub-region SER9' within the NF1-REPc PRS1 recombination region -chr17 30650811 30650824 nucleotide_motif 0 + 30650811 30650824 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106113036|GeneID:106113036,105371723|GeneID:105371723 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 30650871 30651270 non_allelic_homologous 0 + 30650871 30651270 160,82,45 recombination_feature sub-region SER10, recombines with sub-region SER10' within the NF1-REPc PRS1 recombination region 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER10, recombines with sub-region SER10' within the NF1-REPc PRS1 recombination region -chr17 30651476 30651773 non_allelic_homologous 0 + 30651476 30651773 160,82,45 recombination_feature sub-region SER11, recombines with sub-region SER11' within the NF1-REPc PRS1 recombination regi 106113036|GeneID:106113036,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER11, recombines with sub-region SER11' within the NF1-REPc PRS1 recombination regi -chr17 30665827 30672143 non_allelic_homologous 0 + 30665827 30672143 160,82,45 recombination_feature NF1-REPa PRS2 recombines with NF1-REPc PRS2 108771181|GeneID:108771181,105371723|GeneID:105371723 15236313|PMID:15236313 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15236313] NF1-REPa PRS2 recombines with NF1-REPc PRS2 -chr17 30666223 30666354 non_allelic_homologous 0 + 30666223 30666354 160,82,45 recombination_feature sub-region SER1, recombines with sub-region SER1' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER1, recombines with sub-region SER1' within the NF1-REPc PRS2 recombination region -chr17 30666363 30666595 non_allelic_homologous 0 + 30666363 30666595 160,82,45 recombination_feature sub-region SER2, recombines with sub-region SER2' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER2, recombines with sub-region SER2' within the NF1-REPc PRS2 recombination region -chr17 30666760 30666825 non_allelic_homologous 0 + 30666760 30666825 160,82,45 recombination_feature sub-region SER3, recombines with sub-region SER3' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER3, recombines with sub-region SER3' within the NF1-REPc PRS2 recombination region -chr17 30666967 30667638 non_allelic_homologous 0 + 30666967 30667638 160,82,45 recombination_feature sub-region SER4, recombines with sub-region SER4' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER4, recombines with sub-region SER4' within the NF1-REPc PRS2 recombination region -chr17 30667458 30667474 nucleotide_motif 0 + 30667458 30667474 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771181|GeneID:108771181,105371723|GeneID:105371723 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30667481 30667497 nucleotide_motif 0 + 30667481 30667497 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771181|GeneID:108771181,105371723|GeneID:105371723 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30667591 30667604 nucleotide_motif 0 + 30667591 30667604 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771181|GeneID:108771181,105371723|GeneID:105371723 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 30667637 30667967 non_allelic_homologous 0 + 30667637 30667967 160,82,45 recombination_feature sub-region SER5, recombines with sub-region SER5' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER5, recombines with sub-region SER5' within the NF1-REPc PRS2 recombination region -chr17 30667966 30668207 non_allelic_homologous 0 + 30667966 30668207 160,82,45 recombination_feature sub-region SER6, recombines with sub-region SER6' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER6, recombines with sub-region SER6' within the NF1-REPc PRS2 recombination region -chr17 30668167 30668180 nucleotide_motif 0 + 30668167 30668180 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771181|GeneID:108771181,105371723|GeneID:105371723 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 30668206 30668944 non_allelic_homologous 0 + 30668206 30668944 160,82,45 recombination_feature sub-region SER7, recombines with sub-region SER7' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER7, recombines with sub-region SER7' within the NF1-REPc PRS2 recombination region -chr17 30668283 30668299 nucleotide_motif 0 + 30668283 30668299 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771181|GeneID:108771181,105371723|GeneID:105371723 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30668646 30668659 nucleotide_motif 0 + 30668646 30668659 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771181|GeneID:108771181,105371723|GeneID:105371723 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 30668706 30668722 nucleotide_motif 0 + 30668706 30668722 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771181|GeneID:108771181,105371723|GeneID:105371723 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30668839 30668855 nucleotide_motif 0 + 30668839 30668855 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771181|GeneID:108771181,105371723|GeneID:105371723 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 30668943 30669058 non_allelic_homologous 0 + 30668943 30669058 160,82,45 recombination_feature sub-region SER8, recombines with sub-region SER8' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER8, recombines with sub-region SER8' within the NF1-REPc PRS2 recombination region -chr17 30669056 30669483 non_allelic_homologous 0 + 30669056 30669483 160,82,45 recombination_feature sub-region SER9, recombines with sub-region SER9' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER9, recombines with sub-region SER9' within the NF1-REPc PRS2 recombination region -chr17 30669567 30669665 non_allelic_homologous 0 + 30669567 30669665 160,82,45 recombination_feature sub-region SER10, recombines with sub-region SER10' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER10, recombines with sub-region SER10' within the NF1-REPc PRS2 recombination region -chr17 30669736 30669889 non_allelic_homologous 0 + 30669736 30669889 160,82,45 recombination_feature sub-region SER11, recombines with sub-region SER11' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER11, recombines with sub-region SER11' within the NF1-REPc PRS2 recombination region -chr17 30669904 30670294 non_allelic_homologous 0 + 30669904 30670294 160,82,45 recombination_feature sub-region SER12, recombines with sub-region SER12' within the NF1-REPc PRS2 recombination regio 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER12, recombines with sub-region SER12' within the NF1-REPc PRS2 recombination regio -chr17 30670293 30670319 non_allelic_homologous 0 + 30670293 30670319 160,82,45 recombination_feature sub-region SER13, recombines with sub-region SER13' within the NF1-REPc PRS2 recombination region 108771181|GeneID:108771181,105371723|GeneID:105371723 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER13, recombines with sub-region SER13' within the NF1-REPc PRS2 recombination region -chr17 30671217 30671230 nucleotide_motif 0 + 30671217 30671230 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771181|GeneID:108771181,105371723|GeneID:105371723 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 30772471 30772573 non_allelic_homologous 0 + 30772471 30772573 160,82,45 recombination_feature sub-region R268011, recombines with sub-region R268011' within the SUZ12 PRS4 recombination region 108783652|GeneID:108783652,440423|GeneID:440423 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region R268011, recombines with sub-region R268011' within the SUZ12 PRS4 recombination region -chr17 30772700 30772775 non_allelic_homologous 0 + 30772700 30772775 160,82,45 recombination_feature sub-region R53327, recombines with sub-region R53327' within the SUZ12 PRS4 recombination region 108783652|GeneID:108783652,440423|GeneID:440423 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region R53327, recombines with sub-region R53327' within the SUZ12 PRS4 recombination region -chr17 30773522 30773747 non_allelic_homologous 0 + 30773522 30773747 160,82,45 recombination_feature sub-region BR5, recombines with sub-region BR5' within the SUZ12 PRS4 recombination region 108783652|GeneID:108783652,440423|GeneID:440423 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region BR5, recombines with sub-region BR5' within the SUZ12 PRS4 recombination region -chr17 30774085 30774338 non_allelic_homologous 0 + 30774085 30774338 160,82,45 recombination_feature sub-region BR6, recombines with sub-region BR6' within the SUZ12 PRS4 recombination region 108783652|GeneID:108783652,440423|GeneID:440423 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region BR6, recombines with sub-region BR6' within the SUZ12 PRS4 recombination region -chr17 31045133 31045165 non_allelic_homologous 0 + 31045133 31045165 160,82,45 recombination_feature sub-region R53520, recombines with sub-region R53520' within the NF1-REPc PRS3 recombination region 108783647|GeneID:108783647,107984974|GeneID:107984974 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region R53520, recombines with sub-region R53520' within the NF1-REPc PRS3 recombination region -chr17 31045166 31045284 non_allelic_homologous 0 + 31045166 31045284 160,82,45 recombination_feature sub-region R85918, recombines with sub-region R85918' within the NF1-REPc PRS3 recombination region 108783647|GeneID:108783647,107984974|GeneID:107984974 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region R85918, recombines with sub-region R85918' within the NF1-REPc PRS3 recombination region -chr17 31045286 31045317 non_allelic_homologous 0 + 31045286 31045317 160,82,45 recombination_feature sub-region D0710202, recombines with sub-region D0710202' within the NF1-REPc PRS3 recombination region 108783647|GeneID:108783647,107984974|GeneID:107984974 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region D0710202, recombines with sub-region D0710202' within the NF1-REPc PRS3 recombination region -chr17 31045543 31045848 non_allelic_homologous 0 + 31045543 31045848 160,82,45 recombination_feature sub-region GUE, recombines with sub-region GUE' within the NF1-REPc PRS3 recombination region 108783647|GeneID:108783647,107984974|GeneID:107984974 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region GUE, recombines with sub-region GUE' within the NF1-REPc PRS3 recombination region -chr17 31045543 31046085 non_allelic_homologous 0 + 31045543 31046085 160,82,45 recombination_feature sub-region D0910711, recombines with sub-region D0910711' within the NF1-REPc PRS3 recombination region 108783647|GeneID:108783647,107984974|GeneID:107984974 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region D0910711, recombines with sub-region D0910711' within the NF1-REPc PRS3 recombination region -chr17 31046086 31046195 non_allelic_homologous 0 + 31046086 31046195 160,82,45 recombination_feature sub-region N2603, recombines with sub-region N2603' within the NF1REPc PRS3 recombination region 108783647|GeneID:108783647,107984974|GeneID:107984974 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region N2603, recombines with sub-region N2603' within the NF1REPc PRS3 recombination region -chr17 31150749 31151062 retrotransposon:AluSx 0 + 31150749 31151062 0,0,192 mobile_genetic_element direction; forward 108281169|GeneID:108281169,4763|GeneID:4763 direction; forward -chr17 31150759 31150797 non_allelic_homologous 0 + 31150759 31150797 160,82,45 recombination_feature MUW-1, UAB-1, and UAB-2 intron 1 recombination sub-region, recombines with the MUW-1, UAB-1, and UAB-2 intron 2 recombination sub-region within the NF1 intron 2 Alu-mediated recombination region 108281169|GeneID:108281169,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] MUW-1, UAB-1, and UAB-2 intron 1 recombination sub-region, recombines with the MUW-1, UAB-1, and UAB-2 intron 2 recombination sub-region within the NF1 intron 2 Alu-mediated recombination region -chr17 31157008 31157288 retrotransposon:AluSx 0 + 31157008 31157288 0,0,192 mobile_genetic_element direction; reverse 108281170|GeneID:108281170,4763|GeneID:4763 direction; reverse -chr17 31157051 31157059 non_allelic_homologous 0 + 31157051 31157059 160,82,45 recombination_feature UAB-3 distal breakpoint sub-region 108281170|GeneID:108281170,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-3 distal breakpoint sub-region -chr17 31157147 31157149 non_allelic_homologous 0 + 31157147 31157149 160,82,45 recombination_feature UAB-75 distal breakpoint sub-region 108281170|GeneID:108281170,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-75 distal breakpoint sub-region -chr17 31157677 31157975 retrotransposon:AluY 0 + 31157677 31157975 0,0,192 mobile_genetic_element direction; forward 108281170|GeneID:108281170,4763|GeneID:4763 direction; forward -chr17 31157687 31157725 non_allelic_homologous 0 + 31157687 31157725 160,82,45 recombination_feature MUW-1, UAB-1, and UAB-2 intron 2 recombination t sub-region, recombines with the MUW-1, UAB-1, and UAB-2 intron 1 breakpoint sub-region within the NF1 intron 1 Alu-mediated recombination region 108281170|GeneID:108281170,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] MUW-1, UAB-1, and UAB-2 intron 2 recombination t sub-region, recombines with the MUW-1, UAB-1, and UAB-2 intron 1 breakpoint sub-region within the NF1 intron 1 Alu-mediated recombination region -chr17 31157688 31157725 non_allelic_homologous 0 + 31157688 31157725 160,82,45 recombination_feature UAB-7 proximal recombination sub-region, recombines with the UAB-7 distal recombination sub-region within the NF1 intron 3 Alu-mediated recombination region 108281170|GeneID:108281170,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-7 proximal recombination sub-region, recombines with the UAB-7 distal recombination sub-region within the NF1 intron 3 Alu-mediated recombination region -chr17 31161753 31162060 retrotransposon:AluSz 0 + 31161753 31162060 0,0,192 mobile_genetic_element direction; forward 108281180|GeneID:108281180,4763|GeneID:4763 direction; forward -chr17 31161925 31161948 non_allelic_homologous 0 + 31161925 31161948 160,82,45 recombination_feature UAB-12 proximal recombination sub-region 108281180|GeneID:108281180,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-12 proximal recombination sub-region -chr17 31161983 31162014 non_allelic_homologous 0 + 31161983 31162014 160,82,45 recombination_feature UAB-76 proximal recombination sub-region, recombines with the UAB-76 distal recombination sub-region within the NF1 intron 8 Alu-mediated recombination region 108281180|GeneID:108281180,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-76 proximal recombination sub-region, recombines with the UAB-76 distal recombination sub-region within the NF1 intron 8 Alu-mediated recombination region -chr17 31162194 31162442 retrotransposon:AluSq2 0 + 31162194 31162442 0,0,192 mobile_genetic_element direction; forward 108281180|GeneID:108281180,4763|GeneID:4763 direction; forward -chr17 31162205 31162242 non_allelic_homologous 0 + 31162205 31162242 160,82,45 recombination_feature UAB-7 distal recombination sub-region 108281180|GeneID:108281180,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-7 distal recombination sub-region -chr17 31162211 31162229 non_allelic_homologous 0 + 31162211 31162229 160,82,45 recombination_feature UAB-10 distal recombination sub-region 108281180|GeneID:108281180,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-10 distal recombination sub-region -chr17 31162215 31162235 non_allelic_homologous 0 + 31162215 31162235 160,82,45 recombination_feature UAB-11 proximal recombination sub-region 108281180|GeneID:108281180,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-11 proximal recombination sub-region -chr17 31184367 31184677 retrotransposon:AluYe5 0 + 31184367 31184677 0,0,192 mobile_genetic_element direction; forward 108281181|GeneID:108281181,4763|GeneID:4763 direction; forward -chr17 31184518 31184539 non_allelic_homologous 0 + 31184518 31184539 160,82,45 recombination_feature UAB-16 distal recombination sub-region 108281181|GeneID:108281181,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-16 distal recombination sub-region -chr17 31184599 31184628 non_allelic_homologous 0 + 31184599 31184628 160,82,45 recombination_feature UAB-76 distal recombination sub-region, recombines with the UAB-76 proximal recombination sub-region within the NF1 intron 3 Alu-mediated recombination region 108281181|GeneID:108281181,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-76 distal recombination sub-region, recombines with the UAB-76 proximal recombination sub-region within the NF1 intron 3 Alu-mediated recombination region -chr17 31351402 31351715 retrotransposon:AluSx 0 + 31351402 31351715 0,0,192 mobile_genetic_element direction; reverse 108281182|GeneID:108281182,4763|GeneID:4763 direction; reverse -chr17 31351562 31351572 non_allelic_homologous 0 + 31351562 31351572 160,82,45 recombination_feature UAB-83 distal recombination sub-region 108281182|GeneID:108281182,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-83 distal recombination sub-region -chr17 31351580 31351590 non_allelic_homologous 0 + 31351580 31351590 160,82,45 recombination_feature UAB-30 distal recombination sub-region 108281182|GeneID:108281182,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-30 distal recombination sub-region -chr17 31351630 31351656 non_allelic_homologous 0 + 31351630 31351656 160,82,45 recombination_feature UAB-72 proximal recombination sub-region 108281182|GeneID:108281182,4763|GeneID:4763 26189818|PMID:26189818 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26189818] UAB-72 proximal recombination sub-region -chr17 31979137 31979239 non_allelic_homologous 0 + 31979137 31979239 160,82,45 recombination_feature sub-region R268011', recombines with sub-region R268011 within the SUZ12P1 PRS4 recombination region 108783653|GeneID:108783653,23512|GeneID:23512 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region R268011', recombines with sub-region R268011 within the SUZ12P1 PRS4 recombination region -chr17 31979366 31979441 non_allelic_homologous 0 + 31979366 31979441 160,82,45 recombination_feature sub-region R53327', recombines with sub-region R53327 within the SUZ12P1 PRS4 recombination region 108783653|GeneID:108783653,23512|GeneID:23512 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region R53327', recombines with sub-region R53327 within the SUZ12P1 PRS4 recombination region -chr17 31980181 31980406 non_allelic_homologous 0 + 31980181 31980406 160,82,45 recombination_feature sub-region BR5', recombines with sub-region BR5 within the SUZ12P1 PRS4 recombination region 108783653|GeneID:108783653,23512|GeneID:23512 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region BR5', recombines with sub-region BR5 within the SUZ12P1 PRS4 recombination region -chr17 31980761 31981014 non_allelic_homologous 0 + 31980761 31981014 160,82,45 recombination_feature sub-region BR6', recombines with sub-region BR6 within the SUZ12P1 PRS4 recombination region 108783653|GeneID:108783653,23512|GeneID:23512 22837079|PMID:22837079 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22837079] sub-region BR6', recombines with sub-region BR6 within the SUZ12P1 PRS4 recombination region -chr17 32043101 32043185 non_allelic_homologous 0 + 32043101 32043185 160,82,45 recombination_feature recombines with the NF1-REPa UWA160-1 recombination region 108771184|GeneID:108771184,114659|GeneID:114659 15236313|PMID:15236313 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15236313] recombines with the NF1-REPa UWA160-1 recombination region -chr17 32062566 32062716 non_allelic_homologous 0 + 32062566 32062716 160,82,45 recombination_feature sub-region SER1', recombines with sub-region SER1 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER1', recombines with sub-region SER1 within the NF1-REPa PRS1 recombination region -chr17 32062992 32063147 non_allelic_homologous 0 + 32062992 32063147 160,82,45 recombination_feature sub-region SER2', recombines with sub-region SER2 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER2', recombines with sub-region SER2 within the NF1-REPa PRS1 recombination region -chr17 32063001 32063017 nucleotide_motif 0 + 32063001 32063017 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106113037|GeneID:106113037 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32063146 32063407 non_allelic_homologous 0 + 32063146 32063407 160,82,45 recombination_feature sub-region SER3', recombines with sub-region SER3 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER3', recombines with sub-region SER3 within the NF1-REPa PRS1 recombination region -chr17 32063766 32064094 non_allelic_homologous 0 + 32063766 32064094 160,82,45 recombination_feature sub-region SER4', recombines with sub-region SER4 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER4', recombines with sub-region SER4 within the NF1-REPa PRS1 recombination region -chr17 32064093 32064433 non_allelic_homologous 0 + 32064093 32064433 160,82,45 recombination_feature sub-region SER5', recombines with sub-region SER5 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER5', recombines with sub-region SER5 within the NF1-REPa PRS1 recombination region -chr17 32064463 32064521 non_allelic_homologous 0 + 32064463 32064521 160,82,45 recombination_feature sub-region SER6', recombines with sub-region SER6 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER6', recombines with sub-region SER6 within the NF1-REPa PRS1 recombination region -chr17 32064487 32064503 nucleotide_motif 0 + 32064487 32064503 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106113037|GeneID:106113037 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32064533 32064828 non_allelic_homologous 0 + 32064533 32064828 160,82,45 recombination_feature sub-region SER7', recombines with sub-region SER7 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER7', recombines with sub-region SER7 within the NF1-REPa PRS1 recombination region -chr17 32064970 32065103 non_allelic_homologous 0 + 32064970 32065103 160,82,45 recombination_feature sub-region SER8', recombines with sub-region SER8 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER8', recombines with sub-region SER8 within the NF1-REPa PRS1 recombination region -chr17 32065477 32065527 non_allelic_homologous 0 + 32065477 32065527 160,82,45 recombination_feature sub-region SER9', recombines with sub-region SER9 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER9', recombines with sub-region SER9 within the NF1-REPa PRS1 recombination region -chr17 32066832 32066845 nucleotide_motif 0 + 32066832 32066845 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106113037|GeneID:106113037 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 32066892 32067291 non_allelic_homologous 0 + 32066892 32067291 160,82,45 recombination_feature sub-region SER10', recombines with sub-region SER10 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER10', recombines with sub-region SER10 within the NF1-REPa PRS1 recombination region -chr17 32067497 32067794 non_allelic_homologous 0 + 32067497 32067794 160,82,45 recombination_feature sub-region SER11', recombines with sub-region SER11 within the NF1-REPa PRS1 recombination region 106113037|GeneID:106113037 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER11', recombines with sub-region SER11 within the NF1-REPa PRS1 recombination region -chr17 32081932 32088243 non_allelic_homologous 0 + 32081932 32088243 160,82,45 recombination_feature NF1REP-M PRS2 recombines with NF1REP-P1 PRS2 108771182|GeneID:108771182 15236313|PMID:15236313 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15236313] NF1REP-M PRS2 recombines with NF1REP-P1 PRS2 -chr17 32082328 32082459 non_allelic_homologous 0 + 32082328 32082459 160,82,45 recombination_feature sub-region SER1', recombines with sub-region SER1 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER1', recombines with sub-region SER1 within the NF1REP-P PRS2 recombination region -chr17 32082470 32082701 non_allelic_homologous 0 + 32082470 32082701 160,82,45 recombination_feature sub-region SER2', recombines with sub-region SER2 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER2', recombines with sub-region SER2 within the NF1REP-P PRS2 recombination region -chr17 32082868 32082933 non_allelic_homologous 0 + 32082868 32082933 160,82,45 recombination_feature sub-region SER3', recombines with sub-region SER3 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER3', recombines with sub-region SER3 within the NF1REP-P PRS2 recombination region -chr17 32083074 32083748 non_allelic_homologous 0 + 32083074 32083748 160,82,45 recombination_feature sub-region SER4', recombines with sub-region SER4 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER4', recombines with sub-region SER4 within the NF1REP-P PRS2 recombination region -chr17 32083568 32083584 nucleotide_motif 0 + 32083568 32083584 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771182|GeneID:108771182 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32083591 32083607 nucleotide_motif 0 + 32083591 32083607 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771182|GeneID:108771182 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32083701 32083714 nucleotide_motif 0 + 32083701 32083714 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771182|GeneID:108771182 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 32083748 32084078 non_allelic_homologous 0 + 32083748 32084078 160,82,45 recombination_feature sub-region SER5', recombines with sub-region SER5 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER5', recombines with sub-region SER5 within the NF1REP-P PRS2 recombination region -chr17 32084076 32084317 non_allelic_homologous 0 + 32084076 32084317 160,82,45 recombination_feature sub-region SER6', recombines with sub-region SER6 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER6', recombines with sub-region SER6 within the NF1REP-P PRS2 recombination region -chr17 32084320 32085058 non_allelic_homologous 0 + 32084320 32085058 160,82,45 recombination_feature sub-region SER7', recombines with sub-region SER7 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER7', recombines with sub-region SER7 within the NF1REP-P PRS2 recombination region -chr17 32084397 32084413 nucleotide_motif 0 + 32084397 32084413 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771182|GeneID:108771182 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32084760 32084773 nucleotide_motif 0 + 32084760 32084773 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771182|GeneID:108771182 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 32084820 32084836 nucleotide_motif 0 + 32084820 32084836 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771182|GeneID:108771182 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32084953 32084969 nucleotide_motif 0 + 32084953 32084969 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771182|GeneID:108771182 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32085047 32085060 nucleotide_motif 0 + 32085047 32085060 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771182|GeneID:108771182 19165926|PMID:19165926,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926, PMID:26614388] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 32085057 32085172 non_allelic_homologous 0 + 32085057 32085172 160,82,45 recombination_feature sub-region SER8', recombines with sub-region SER8 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER8', recombines with sub-region SER8 within the NF1REP-P PRS2 recombination region -chr17 32085171 32085598 non_allelic_homologous 0 + 32085171 32085598 160,82,45 recombination_feature sub-region SER9', recombines with sub-region SER9 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER9', recombines with sub-region SER9 within the NF1REP-P PRS2 recombination region -chr17 32085682 32085780 non_allelic_homologous 0 + 32085682 32085780 160,82,45 recombination_feature sub-region SER10', recombines with sub-region SER10 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER10', recombines with sub-region SER10 within the NF1REP-P PRS2 recombination region -chr17 32085767 32085783 nucleotide_motif 0 + 32085767 32085783 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108771182|GeneID:108771182 21750151|PMID:21750151,26614388|PMID:26614388 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151, PMID:26614388] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr17 32085851 32086004 non_allelic_homologous 0 + 32085851 32086004 160,82,45 recombination_feature sub-region SER11', recombines with sub-region SER11 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER11', recombines with sub-region SER11 within the NF1REP-P PRS2 recombination region -chr17 32086013 32086396 non_allelic_homologous 0 + 32086013 32086396 160,82,45 recombination_feature sub-region SER12', recombines with sub-region SER12 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER12', recombines with sub-region SER12 within the NF1REP-P PRS2 recombination region -chr17 32086395 32086421 non_allelic_homologous 0 + 32086395 32086421 160,82,45 recombination_feature sub-region SER13', recombines with sub-region SER13 within the NF1REP-P PRS2 recombination region 108771182|GeneID:108771182 26614388|PMID:26614388 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26614388] sub-region SER13', recombines with sub-region SER13 within the NF1REP-P PRS2 recombination region -chr17 32087318 32087331 nucleotide_motif 0 + 32087318 32087331 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108771182|GeneID:108771182 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr17 32094785 32094817 non_allelic_homologous 0 + 32094785 32094817 160,82,45 recombination_feature sub-region R53520', recombines with sub-region R53520 within the NF1-REPb PRS3 recombination region 108783648|GeneID:108783648 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region R53520', recombines with sub-region R53520 within the NF1-REPb PRS3 recombination region -chr17 32094818 32094936 non_allelic_homologous 0 + 32094818 32094936 160,82,45 recombination_feature sub-region R85918', recombines with sub-region R85918 within the NF1-REPb PRS3 recombination region 108783648|GeneID:108783648 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region R85918', recombines with sub-region R85918 within the NF1-REPb PRS3 recombination region -chr17 32094938 32094969 non_allelic_homologous 0 + 32094938 32094969 160,82,45 recombination_feature sub-region D0710202', recombines with sub-region D0710202 within the NF1-REPb PRS3 recombination region 108783648|GeneID:108783648 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region D0710202', recombines with sub-region D0710202 within the NF1-REPb PRS3 recombination region -chr17 32095104 32095110 nucleotide_motif 0 + 32095104 32095110 192,0,192 sequence_feature nucleotide motif; CGGGGC motif, overrepresented near gene conversions and micro-deletions and micro-insertions 108783648|GeneID:108783648 16086312|PMID:16086312,19431182|PMID:19431182,22045503|PMID:22045503 COORDINATES:motif similarity evidence [ECO:0000028][PMID:22045503, PMID:19431182, PMID:16086312] nucleotide motif; CGGGGC motif, overrepresented near gene conversions and micro-deletions and micro-insertions -chr17 32095195 32095270 non_allelic_homologous 0 + 32095195 32095270 160,82,45 recombination_feature sub-region GUE', recombines with sub-region GUE within the NF1-REPb PRS3 recombination region 108783648|GeneID:108783648 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region GUE', recombines with sub-region GUE within the NF1-REPb PRS3 recombination region -chr17 32095195 32095738 non_allelic_homologous 0 + 32095195 32095738 160,82,45 recombination_feature sub-region D0910711', recombines with sub-region D0910711 within the NF1-REPb PRS3 recombination region 108783648|GeneID:108783648 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region D0910711', recombines with sub-region D0910711 within the NF1-REPb PRS3 recombination region -chr17 32095739 32095848 non_allelic_homologous 0 + 32095739 32095848 160,82,45 recombination_feature sub-region N2603', recombines with sub-region N2603 within the NF1-REPb PRS3 recombination region 108783648|GeneID:108783648 22045503|PMID:22045503 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22045503] sub-region N2603', recombines with sub-region N2603 within the NF1-REPb PRS3 recombination region -chr17 33750499 33751658 enhancer 0 + 33750499 33751658 0,128,128 enhancer VISTA enhancer hs1725 110121437|GeneID:110121437 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[16/20] | hindbrain (rhombencephalon)[16/20] | midbrain (mesencephalon)[18/20] | forebrain[18/20] VISTA enhancer hs1725 | enhancer in: neural tube[16/20] | hindbrain (rhombencephalon)[16/20] | midbrain (mesencephalon)[18/20] | forebrain[18/20] -chr17 36655390 36656100 enhancer 0 + 36655390 36656100 0,128,128 enhancer VISTA enhancer hs362 110120862|GeneID:110120862 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs362 | enhancer in: limb[3/5] -chr17 36972049 36972645 enhancer 0 + 36972049 36972645 0,128,128 enhancer VISTA enhancer hs363 110120863|GeneID:110120863,26574|GeneID:26574 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/6] VISTA enhancer hs363 | enhancer in: hindbrain (rhombencephalon)[6/6] -chr17 38728737 38728960 enhancer 0 + 38728737 38728960 0,128,128 enhancer control region 19, which was negatively scoring by a predictive classifier 108004529|GeneID:108004529,4302|GeneID:4302 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart control region 19, which was negatively scoring by a predictive classifier | enhancer in heart -chr17 39618231 39618735 enhancer 0 + 39618231 39618735 0,128,128 enhancer VISTA enhancer hs627 110120913|GeneID:110120913 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/8] VISTA enhancer hs627 | enhancer in: midbrain (mesencephalon)[3/8] -chr17 39674870 39678277 enhancer 0 + 39674870 39678277 0,128,128 enhancer VISTA enhancer hs1769 110121446|GeneID:110121446 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/7] VISTA enhancer hs1769 | enhancer in: heart[6/7] -chr17 47291161 47292148 enhancer 0 + 47291161 47292148 0,128,128 enhancer VISTA enhancer hs2033 110121475|GeneID:110121475,3690|GeneID:3690 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: trigeminal V (ganglion, cranial)[3/4] VISTA enhancer hs2033 | enhancer in: trigeminal V (ganglion, cranial)[3/4] -chr17 47731243 47733243 promoter 0 + 47731243 47733243 0,128,128 promoter 2 kb promoter fragment 109286563|GeneID:109286563 16713975|PMID:16713975 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16713975] 2 kb promoter fragment -chr17 47731448 47731475 protein_bind: YY1 transcription factor 0 + 47731448 47731475 192,0,0 protein_binding_site -1993 site 109286563|GeneID:109286563 21272048|PMID:21272048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21272048] -1993 site | YY1 transcription factor -chr17 47731927 47731954 protein_bind: upstream transcription factor 1 0 + 47731927 47731954 192,0,0 protein_binding_site -1514 site 109286563|GeneID:109286563 22258560|PMID:22258560 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22258560] -1514 site | upstream transcription factor 1 -chr17 47733142 47733199 protein_bind: Sp1 transcription factor 0 + 47733142 47733199 192,0,0 protein_binding_site SP1 site cluster; -101 to -44 109286563|GeneID:109286563 17705132|PMID:17705132 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17705132] SP1 site cluster; -101 to -44 | Sp1 transcription factor -chr17 48149189 48150331 enhancer 0 + 48149189 48150331 0,128,128 enhancer VISTA enhancer hs697 110120923|GeneID:110120923 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/9] VISTA enhancer hs697 | enhancer in: eye[3/9] -chr17 51831667 51831732 tandem 0 + 51831667 51831732 0,0,192 repeat_region 109609706|GeneID:109609706 repeat_region -chr17 51831669 51831732 repeat_instability_region 0 + 51831669 51831732 192,0,192 sequence_feature repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) to around 40-50 repeats results in meiotic instability of the repeat and somatic mosaicism 109609706|GeneID:109609706 10050972|PMID:10050972 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:10050972] repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) to around 40-50 repeats results in meiotic instability of the repeat and somatic mosaicism -chr17 55284101 55286538 enhancer 0 + 55284101 55286538 0,128,128 enhancer VISTA enhancer hs2291 110121501|GeneID:110121501,3131|GeneID:3131 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[10/12] VISTA enhancer hs2291 | enhancer in: other[10/12] -chr17 58272254 58274244 enhancer 0 + 58272254 58274244 0,128,128 enhancer fragment J 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] fragment J -chr17 58272733 58273491 enhancer 0 + 58272733 58273491 0,128,128 enhancer KpnI/PstI fragment (J2) 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] KpnI/PstI fragment (J2) -chr17 58273063 58273099 enhancer 0 + 58273063 58273099 0,128,128 enhancer JKT41 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] JKT41 -chr17 58274245 58276512 enhancer 0 + 58274245 58276512 0,128,128 enhancer fragment E 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] fragment E -chr17 58276506 58276626 enhancer 0 + 58276506 58276626 0,128,128 enhancer PvuII/XbaI fragment (PX) 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] PvuII/XbaI fragment (PX) -chr17 58276506 58277462 enhancer 0 + 58276506 58277462 0,128,128 enhancer fragment F 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] fragment F -chr17 58276564 58276586 enhancer 0 + 58276564 58276586 0,128,128 enhancer FERE27 106694316|GeneID:106694316 8390465|PMID:8390465 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8390465] FERE27 -chr17 58279587 58280388 DNase_I_hypersensitive_site 0 + 58279587 58280388 0,128,128 region HS-4; HL-60 promyelocytes; the nucleotide coordinates are approximate for this feature 106694315|GeneID:106694315 1845843|PMID:1845843 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1845843] HS-4; HL-60 promyelocytes; the nucleotide coordinates are approximate for this feature -chr17 58280425 58281526 DNase_I_hypersensitive_site 0 + 58280425 58281526 0,128,128 region HS-3; HL-60 promyelocytes, KG-1 myoblasts; the nucleotide coordinates are approximate for this feature 106694315|GeneID:106694315 1648980|PMID:1648980,1845843|PMID:1845843 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1648980, PMID:1845843] HS-3; HL-60 promyelocytes, KG-1 myoblasts; the nucleotide coordinates are approximate for this feature -chr17 58280924 58281065 promoter 0 + 58280924 58281065 0,128,128 promoter -128 to +11 minimal promoter; P1 106694315|GeneID:106694315 7769848|PMID:7769848,9001423|PMID:9001423 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7769848, PMID:9001423] -128 to +11 minimal promoter; P1 -chr17 58280924 58281519 promoter 0 + 58280924 58281519 0,128,128 promoter -583 to +11 promoter 106694315|GeneID:106694315 7769848|PMID:7769848 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7769848] -583 to +11 promoter -chr17 58280932 58280969 protein_bind: HMG-box transcription factor 1 0 + 58280932 58280969 192,0,0 protein_binding_site HBP1 binding site 106694315|GeneID:106694315 11368363|PMID:11368363 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11368363] HBP1 binding site | HMG-box transcription factor 1 -chr17 58281433 58282434 DNase_I_hypersensitive_site 0 + 58281433 58282434 0,128,128 region HS-2; HL-60 promyelocytes; the nucleotide coordinates are approximate for this feature 106694315|GeneID:106694315 1648980|PMID:1648980,1845843|PMID:1845843 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1648980, PMID:1845843] HS-2; HL-60 promyelocytes; the nucleotide coordinates are approximate for this feature -chr17 58281457 58281859 promoter 0 + 58281457 58281859 0,128,128 promoter -523 to -924 promoter; P2 106694315|GeneID:106694315 9001423|PMID:9001423 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9001423] -523 to -924 promoter; P2 -chr17 58281683 58281713 protein_bind: nuclear transcription factor Y heterotrimer 0 + 58281683 58281713 192,0,0 protein_binding_site GRE-5 106694315|GeneID:106694315 9287329|PMID:9287329 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9287329] GRE-5 | nuclear transcription factor Y heterotrimer -chr17 58281683 58281783 response_element 0 + 58281683 58281783 0,128,128 regulatory_region -1023 to -928 fragment 106694315|GeneID:106694315 9287329|PMID:9287329 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9287329] G-CSF-inducible and IL-3-repressive regulatory element -1023 to -928 fragment | G-CSF-inducible and IL-3-repressive regulatory element -chr17 58281743 58281969 promoter 0 + 58281743 58281969 0,128,128 promoter 1476 to 1701 minimal promoter fragment 106694315|GeneID:106694315 10639585|PMID:10639585 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10639585] 1476 to 1701 minimal promoter fragment -chr17 58281753 58281783 protein_bind: nuclear transcription factor Y heterotrimer 0 + 58281753 58281783 192,0,0 protein_binding_site GRE-1 106694315|GeneID:106694315 9287329|PMID:9287329 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9287329] GRE-1 | nuclear transcription factor Y heterotrimer -chr17 58281867 58281885 enhancer 0 + 58281867 58281885 0,128,128 enhancer GATAPU site 106694315|GeneID:106694315 10639585|PMID:10639585 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10639585] GATAPU site -chr17 58282014 58282215 promoter 0 + 58282014 58282215 0,128,128 promoter -1088 to -1271 promoter; P3 106694315|GeneID:106694315 9001423|PMID:9001423 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9001423] -1088 to -1271 promoter; P3 -chr17 58284483 58285984 DNase_I_hypersensitive_site 0 + 58284483 58285984 0,128,128 region HS-1; HL-60 promyelocytes; the nucleotide coordinates are approximate for this feature 106677019|GeneID:106677019 1648980|PMID:1648980,1845843|PMID:1845843 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1648980, PMID:1845843] HS-1; HL-60 promyelocytes; the nucleotide coordinates are approximate for this feature -chr17 58284785 58284814 protein_bind: CCAAT/enhancer binding proteins (C/EBP) 0 + 58284785 58284814 192,0,0 protein_binding_site F1 site 106677019|GeneID:106677019 18435917|PMID:18435917 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18435917] F1 site | CCAAT/enhancer binding proteins (C/EBP) -chr17 58284785 58284814 protein_bind: v-myb avian myeloblastosis viral oncogene homolog 0 + 58284785 58284814 192,0,0 protein_binding_site F1 site 106677019|GeneID:106677019 18435917|PMID:18435917 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18435917] F1 site | v-myb avian myeloblastosis viral oncogene homolog -chr17 58284789 58285046 enhancer 0 + 58284789 58285046 0,128,128 enhancer -3844 to -4100 fragment 106677019|GeneID:106677019 9783807|PMID:9783807,18435917|PMID:18435917 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9783807, PMID:18435917] TPA and DMSO-responsive enhancer -3844 to -4100 fragment | TPA and DMSO-responsive enhancer -chr17 58284835 58284859 protein_bind: runt-related transcription factor 1 0 + 58284835 58284859 192,0,0 protein_binding_site F2 site 106677019|GeneID:106677019 18435917|PMID:18435917 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18435917] F2 site | runt-related transcription factor 1 -chr17 58285020 58285045 protein_bind: runt-related transcription factor 1 0 + 58285020 58285045 192,0,0 protein_binding_site -4099 to -4075 probe 106677019|GeneID:106677019 9783807|PMID:9783807 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9783807] -4099 to -4075 probe | runt-related transcription factor 1 -chr17 59754252 59755095 enhancer 0 + 59754252 59755095 0,128,128 enhancer amplified fragment containing the chr17:57831888-57832338 (GRCh37) CAGE region 108281137|GeneID:108281137,81671|GeneID:81671 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HepG2 cells amplified fragment containing the chr17:57831888-57832338 (GRCh37) CAGE region | low expression transcribed enhancer in HepG2 cells -chr17 59754526 59754977 CAGE_cluster 0 + 59754526 59754977 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281137|GeneID:108281137,81671|GeneID:81671 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr17 61398799 61400060 promoter 0 + 61398799 61400060 0,128,128 promoter -1096 to +165 promoter 109280161|GeneID:109280161 23727221|PMID:23727221 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23727221] -1096 to +165 promoter -chr17 61399679 61399927 promoter 0 + 61399679 61399927 0,128,128 promoter p216 promoter 109280161|GeneID:109280161 18640248|PMID:18640248 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18640248] p216 promoter -chr17 61399708 61399738 protein_bind: T-box 3 0 + 61399708 61399738 192,0,0 protein_binding_site T element 109280161|GeneID:109280161 25371204|PMID:25371204 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25371204] T element | T-box 3 -chr17 61399766 61399793 protein_bind: Sp1 transcription factor 0 + 61399766 61399793 192,0,0 protein_binding_site Sp1 site 109280161|GeneID:109280161 18640248|PMID:18640248 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18640248] Sp1 site | Sp1 transcription factor -chr17 61399786 61399815 protein_bind: nuclear transcription factor Y 0 + 61399786 61399815 192,0,0 protein_binding_site CCAAT box 109280161|GeneID:109280161 18640248|PMID:18640248 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18640248] CCAAT box | nuclear transcription factor Y -chr17 61399915 61399927 transcriptional_cis_regulatory_region 0 + 61399915 61399927 0,128,128 region DPE (downstream core promoter element) 109280161|GeneID:109280161,6909|GeneID:6909 18640248|PMID:18640248 EXISTENCE:deletion mutation evidence [ECO:0005510][PMID:18640248] important for basal promoter activity DPE (downstream core promoter element) | important for basal promoter activity -chr17 61815757 61816780 enhancer 0 + 61815757 61816780 0,128,128 enhancer VISTA enhancer hs778 110120932|GeneID:110120932 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[7/11] VISTA enhancer hs778 | enhancer in: other[7/11] -chr17 63674231 63677730 enhancer 0 + 63674231 63677730 0,128,128 enhancer VISTA enhancer hs1856 110121451|GeneID:110121451,107984984|GeneID:107984984 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/7] VISTA enhancer hs1856 | enhancer in: heart[6/7] -chr17 63911733 63911762 non_allelic_homologous 0 + 63911733 63911762 160,82,45 recombination_feature sub-region a, recombines with sub-region a' within the IGHD type 1A-2 recombination region 108004536|GeneID:108004536 2840669|PMID:2840669 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2840669] sub-region a, recombines with sub-region a' within the IGHD type 1A-2 recombination region -chr17 63914982 63915579 non_allelic_homologous 0 + 63914982 63915579 160,82,45 recombination_feature sub-region b, recombines with sub-region b' within the IGHD type 1A-2 recombination region 108004536|GeneID:108004536 1980158|PMID:1980158 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1980158] sub-region b, recombines with sub-region b' within the IGHD type 1A-2 recombination region -chr17 63916026 63916470 non_allelic_homologous 0 + 63916026 63916470 160,82,45 recombination_feature sub-region c, recombines with sub-region c' within the IGHD type 1A-2 recombination region 108004536|GeneID:108004536 1980158|PMID:1980158 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1980158] sub-region c, recombines with sub-region c' within the IGHD type 1A-2 recombination region -chr17 63917192 63958852 locus_control_region 0 + 63917192 63958852 0,128,128 locus_control_region fragment (approximate range) that functions as an LCR in transgenic assays 106128904|GeneID:106128904 8524268|PMID:8524268 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8524268] fragment (approximate range) that functions as an LCR in transgenic assays -chr17 63918832 63919326 promoter 0 + 63918832 63919326 0,128,128 promoter 494 bp EcoRI/BamHI GH1 promoter fragment 106128904|GeneID:106128904 9724759|PMID:9724759 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9724759] 494 bp EcoRI/BamHI GH1 promoter fragment -chr17 63918912 63918926 protein_bind: POU class 1 homeobox 1 0 + 63918912 63918926 192,0,0 protein_binding_site GH-1 Pit-1-binding site at GH1 promoter 106128904|GeneID:106128904 16914737|PMID:16914737 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16914737] GH-1 Pit-1-binding site at GH1 promoter | POU class 1 homeobox 1 -chr17 63918948 63918962 protein_bind: POU class 1 homeobox 1 0 + 63918948 63918962 192,0,0 protein_binding_site GH-2 Pit-1-binding site at GH1 promoter 106128904|GeneID:106128904 16914737|PMID:16914737 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16914737] GH-2 Pit-1-binding site at GH1 promoter | POU class 1 homeobox 1 -chr17 63919314 63919343 non_allelic_homologous 0 + 63919314 63919343 160,82,45 recombination_feature sub-region a', recombines with sub-region a within the IGHD type 1A-1 recombination region 105980078|GeneID:105980078 2840669|PMID:2840669 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:2840669] sub-region a', recombines with sub-region a within the IGHD type 1A-1 recombination region -chr17 63921599 63922195 non_allelic_homologous 0 + 63921599 63922195 160,82,45 recombination_feature sub-region b', recombines with sub-region b within the IGHD type 1A-1 recombination region 105980078|GeneID:105980078 1980158|PMID:1980158 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1980158] sub-region b', recombines with sub-region b within the IGHD type 1A-1 recombination region -chr17 63922645 63923097 non_allelic_homologous 0 + 63922645 63923097 160,82,45 recombination_feature sub-region c', recombines with sub-region c within the IGHD type 1A-1 recombination region 105980078|GeneID:105980078 1980158|PMID:1980158 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1980158] sub-region c', recombines with sub-region c within the IGHD type 1A-1 recombination region -chr17 63933580 63933840 enhancer 0 + 63933580 63933840 0,128,128 enhancer 260 bp HSI enhancer fragment 106128904|GeneID:106128904 10446901|PMID:10446901 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10446901] 260 bp HSI enhancer fragment -chr17 63933580 63935185 enhancer 0 + 63933580 63935185 0,128,128 enhancer 1.6 kb HSI/II enhancer fragment 106128904|GeneID:106128904 10446901|PMID:10446901 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10446901] 1.6 kb HSI/II enhancer fragment -chr17 63933581 63933986 DNase_I_hypersensitive_site 0 + 63933581 63933986 0,128,128 region HSI; the nucleotide coordinates are approximate for this feature 106128904|GeneID:106128904 8524268|PMID:8524268,9724759|PMID:9724759 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8524268, PMID:9724759] activates GH1 during pituitary development and sustains robust activity in the adult HSI; the nucleotide coordinates are approximate for this feature | activates GH1 during pituitary development and sustains robust activity in the adult -chr17 63933581 63933986 enhancer 0 + 63933581 63933986 0,128,128 enhancer 404 bp HSI F14 enhancer fragment 106128904|GeneID:106128904 9724759|PMID:9724759 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9724759] 404 bp HSI F14 enhancer fragment -chr17 63933732 63933772 protein_bind: POU class 1 homeobox 1 0 + 63933732 63933772 192,0,0 protein_binding_site HSI Pit-1C- or F14.3.4- or M3-binding site 106128904|GeneID:106128904 10446901|PMID:10446901,10585453|PMID:10585453,12189206|PMID:12189206,16914737|PMID:16914737 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16914737, PMID:10585453, PMID:10446901, PMID:12189206] HSI Pit-1C- or F14.3.4- or M3-binding site | POU class 1 homeobox 1 -chr17 63933792 63933832 protein_bind: POU class 1 homeobox 1 0 + 63933792 63933832 192,0,0 protein_binding_site HSI Pit-1B- or F14.3.1- or M2-binding site 106128904|GeneID:106128904 10446901|PMID:10446901,10585453|PMID:10585453,12189206|PMID:12189206,16914737|PMID:16914737 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16914737, PMID:10585453, PMID:10446901, PMID:12189206] HSI Pit-1B- or F14.3.1- or M2-binding site | POU class 1 homeobox 1 -chr17 63933901 63933941 protein_bind: POU class 1 homeobox 1 0 + 63933901 63933941 192,0,0 protein_binding_site HSI Pit-1A- or F14.1- or M1-binding site 106128904|GeneID:106128904 10446901|PMID:10446901,10585453|PMID:10585453,12189206|PMID:12189206,16914737|PMID:16914737 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16914737, PMID:10585453, PMID:10446901, PMID:12189206] HSI Pit-1A- or F14.1- or M1-binding site | POU class 1 homeobox 1 -chr17 63933985 63935184 DNase_I_hypersensitive_site 0 + 63933985 63935184 0,128,128 region HSII; the nucleotide coordinates are approximate for this feature 106128904|GeneID:106128904 8524268|PMID:8524268,22669946|PMID:22669946 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8524268, PMID:22669946] cooperates with HSI in histone acetyltransferase (HAT) recruitment HSII; the nucleotide coordinates are approximate for this feature | cooperates with HSI in histone acetyltransferase (HAT) recruitment -chr17 63934192 63934259 protein_bind: POU class 1 homeobox 1 0 + 63934192 63934259 192,0,0 protein_binding_site HSII.4.1.2 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.4.1.2 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63934259 63934312 protein_bind: POU class 1 homeobox 1 0 + 63934259 63934312 192,0,0 protein_binding_site HSII.4.1.1 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.4.1.1 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63934293 63934343 protein_bind: POU class 1 homeobox 1 0 + 63934293 63934343 192,0,0 protein_binding_site HSII.3.3.2 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.3.3.2 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63934343 63934388 protein_bind: POU class 1 homeobox 1 0 + 63934343 63934388 192,0,0 protein_binding_site HSII.3.3.1 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.3.3.1 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63934873 63934927 protein_bind: POU class 1 homeobox 1 0 + 63934873 63934927 192,0,0 protein_binding_site HSII.1.3.2 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.1.3.2 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63934927 63934990 protein_bind: POU class 1 homeobox 1 0 + 63934927 63934990 192,0,0 protein_binding_site HSII.1.3.1 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.1.3.1 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63935075 63935139 protein_bind: POU class 1 homeobox 1 0 + 63935075 63935139 192,0,0 protein_binding_site HSII.1.1.2 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.1.1.2 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63935139 63935184 protein_bind: POU class 1 homeobox 1 0 + 63935139 63935184 192,0,0 protein_binding_site HSII.1.1.1 POU1F1-binding site 106128904|GeneID:106128904 22094313|PMID:22094313 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22094313] HSII.1.1.1 POU1F1-binding site | POU class 1 homeobox 1 -chr17 63945008 63948156 DNase_I_hypersensitive_site 0 + 63945008 63948156 0,128,128 region HSIII; the nucleotide coordinates are approximate for this feature 106128904|GeneID:106128904 8524268|PMID:8524268,14673137|PMID:14673137 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8524268] enhancer activity; PMID:14673137 HSIII; the nucleotide coordinates are approximate for this feature | enhancer activity; PMID:14673137 -chr17 63945852 63951852 insulator 0 + 63945852 63951852 0,128,128 region 6 kb HSIII-HSV region (approximate range) necessary for insulation of transgenes against chromosomal position effects 106128904|GeneID:106128904 24561805|PMID:24561805 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:24561805] 6 kb HSIII-HSV region (approximate range) necessary for insulation of transgenes against chromosomal position effects -chr17 63946487 63947061 enhancer 0 + 63946487 63947061 0,128,128 enhancer 574 bp HSIII enhancer fragment 106128904|GeneID:106128904 14673137|PMID:14673137 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14673137] 574 bp HSIII enhancer fragment -chr17 63946497 63946516 protein_bind: ELK1, member of ETS oncogene family 0 + 63946497 63946516 192,0,0 protein_binding_site HSIII FP4 Elk-1-binding site 106128904|GeneID:106128904 14673137|PMID:14673137 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14673137] HSIII FP4 Elk-1-binding site | ELK1, member of ETS oncogene family -chr17 63946851 63946884 protein_bind: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 0 + 63946851 63946884 192,0,0 protein_binding_site HSIII FP3 AP-2-binding site 106128904|GeneID:106128904 14673137|PMID:14673137 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14673137] HSIII FP3 AP-2-binding site | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) -chr17 63948389 63948988 DNase_I_hypersensitive_site 0 + 63948389 63948988 0,128,128 region HSIV, placenta-specific; the nucleotide coordinates are approximate for this feature 106128904|GeneID:106128904 8524268|PMID:8524268,24561805|PMID:24561805 DESCRIPTION:in vivo cleavage assay evidence [ECO:0001075][PMID:8524268, PMID:24561805] protects transgenes from chromosomal position effects in placental chromatin HSIV, placenta-specific; the nucleotide coordinates are approximate for this feature | protects transgenes from chromosomal position effects in placental chromatin -chr17 63951009 63951556 DNase_I_hypersensitive_site 0 + 63951009 63951556 0,128,128 region HSV; the nucleotide coordinates are approximate for this feature 106128904|GeneID:106128904 8524268|PMID:8524268,21711161|PMID:21711161 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8524268] enhancer-blocking element; PMID:21711161 HSV; the nucleotide coordinates are approximate for this feature | enhancer-blocking element; PMID:21711161 -chr17 63951009 63951556 enhancer_blocking_element 0 + 63951009 63951556 0,128,128 insulator 547 bp HSV enhancer-blocking fragment 106128904|GeneID:106128904 21711161|PMID:21711161 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21711161] 547 bp HSV enhancer-blocking fragment -chr17 63951325 63951556 enhancer_blocking_element 0 + 63951325 63951556 0,128,128 insulator 231 bp HSV enhancer-blocking fragment 106128904|GeneID:106128904 21711161|PMID:21711161 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21711161] 231 bp HSV enhancer-blocking fragment -chr17 63951511 63951556 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 63951511 63951556 192,0,0 protein_binding_site 45 bp HSV sF1 CTCF-binding fragment 106128904|GeneID:106128904 21711161|PMID:21711161 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21711161] 45 bp HSV sF1 CTCF-binding fragment | CCCTC-binding factor (zinc finger protein) -chr17 63951511 63951556 protein_bind: YY1 transcription factor 0 + 63951511 63951556 192,0,0 protein_binding_site 45 bp HSV sF1 YY1-binding fragment 106128904|GeneID:106128904 21711161|PMID:21711161 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21711161] 45 bp HSV sF1 YY1-binding fragment | YY1 transcription factor -chr17 65165143 65168148 enhancer 0 + 65165143 65168148 0,128,128 enhancer VISTA enhancer hs1517 110121386|GeneID:110121386,8787|GeneID:8787 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/13] | other[10/13] VISTA enhancer hs1517 | enhancer in: neural tube[6/13] | other[10/13] -chr17 70679937 70680186 enhancer 0 + 70679937 70680186 0,128,128 enhancer F2 sequence 108021840|GeneID:108021840 19234473|PMID:19234473 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:19234473] F2 sequence -chr17 70680152 70680174 protein_bind: msh homeobox 1 0 + 70680152 70680174 192,0,0 protein_binding_site MSX1 site 108021840|GeneID:108021840 19234473|PMID:19234473 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19234473] promotes enhancer activity MSX1 site | promotes enhancer activity | msh homeobox 1 -chr17 71003327 71004627 enhancer 0 + 71003327 71004627 0,128,128 enhancer VISTA enhancer hs1467 110121373|GeneID:110121373 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/9] VISTA enhancer hs1467 | enhancer in: limb[5/9] -chr17 71011693 71013769 enhancer 0 + 71011693 71013769 0,128,128 enhancer cre1 108021841|GeneID:108021841 17409199|PMID:17409199 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17409199] cre1 -chr17 71013437 71013466 protein_bind: GLI family zinc finger 1 0 + 71013437 71013466 192,0,0 protein_binding_site GLI1 site 108021841|GeneID:108021841,100131241|GeneID:100131241 17409199|PMID:17409199 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17409199] mediates Shh stimulation of enhancer activity GLI1 site | mediates Shh stimulation of enhancer activity | GLI family zinc finger 1 -chr17 71111473 71112664 enhancer 0 + 71111473 71112664 0,128,128 enhancer E1 sequence from PMID:22665440 108004546|GeneID:108004546 22665440|PMID:22665440 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22665440] E1 sequence from PMID:22665440 -chr17 71398294 71399413 enhancer 0 + 71398294 71399413 0,128,128 enhancer enh3 108021839|GeneID:108021839 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh3 -chr17 71492375 71494252 enhancer 0 + 71492375 71494252 0,128,128 enhancer F8 fragment 108004545|GeneID:108004545 25604083|PMID:25604083 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25604083] enhancer in Sertoli cells in vitro F8 fragment | enhancer in Sertoli cells in vitro -chr17 71493769 71495237 conserved_region 0 + 71493769 71495237 192,0,192 sequence_feature conserved region; CNE2 108004545|GeneID:108004545 25604083|PMID:25604083 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:25604083] conserved region; CNE2 -chr17 71743447 71743990 enhancer 0 + 71743447 71743990 0,128,128 enhancer enh4 108004550|GeneID:108004550 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh4 -chr17 71801056 71801776 enhancer 0 + 71801056 71801776 0,128,128 enhancer enh5 108004549|GeneID:108004549 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh5 -chr17 71854677 71855824 enhancer 0 + 71854677 71855824 0,128,128 enhancer enh6 108004548|GeneID:108004548 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh6 -chr17 71865526 71866550 enhancer 0 + 71865526 71866550 0,128,128 enhancer enh7 108004547|GeneID:108004547 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh7 -chr17 71870456 71870989 enhancer 0 + 71870456 71870989 0,128,128 enhancer E3 108021843|GeneID:108021843 16458883|PMID:16458883 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16458883] enhancer in cranial neural crest and inner ear E3 | enhancer in cranial neural crest and inner ear -chr17 71870642 71870738 conserved_region 0 + 71870642 71870738 192,0,192 sequence_feature conserved region; E3 108021843|GeneID:108021843 11707075|PMID:11707075 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:11707075] conserved region; E3 -chr17 72092645 72093159 enhancer 0 + 72092645 72093159 0,128,128 enhancer E1 108021844|GeneID:108021844,101928205|GeneID:101928205 16458883|PMID:16458883 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16458883] enhancer in node, notochord, gut, bronchial epithelium, and pancreas E1 | enhancer in node, notochord, gut, bronchial epithelium, and pancreas -chr17 72092850 72092963 conserved_region 0 + 72092850 72092963 192,0,192 sequence_feature conserved region; E1 108021844|GeneID:108021844,101928205|GeneID:101928205 11707075|PMID:11707075 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:11707075] conserved region; E1 -chr17 72106289 72109375 enhancer 0 + 72106289 72109375 0,128,128 enhancer hTES fragment 108021845|GeneID:108021845 21412441|PMID:21412441 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21412441] hTES fragment -chr17 72120284 72121052 promoter 0 + 72120284 72121052 0,128,128 promoter -734 (XhoI) to +33 promoter fragment 108021846|GeneID:108021846 11606049|PMID:11606049 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11606049] -734 (XhoI) to +33 promoter fragment -chr17 72120323 72120362 protein_bind: RELA proto-oncogene, NF-kB subunit 0 + 72120323 72120362 192,0,0 protein_binding_site NF-Kb p65 site; blocked by cytosine methylation 108021846|GeneID:108021846 23592398|PMID:23592398 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23592398] positive regulation of transcription NF-Kb p65 site; blocked by cytosine methylation | positive regulation of transcription | RELA proto-oncogene, NF-kB subunit -chr17 72120753 72120792 protein_bind: RELA proto-oncogene, NF-kB subunit 0 + 72120753 72120792 192,0,0 protein_binding_site -289/-203 RelA response element 108021846|GeneID:108021846 19254740|PMID:19254740 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19254740] positive regulation of transcription -289/-203 RelA response element | positive regulation of transcription | RELA proto-oncogene, NF-kB subunit -chr17 72120804 72120812 protein_bind: Sp1 transcription factor 0 + 72120804 72120812 192,0,0 protein_binding_site Sp1-1 site 108021846|GeneID:108021846 17289023|PMID:17289023 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17289023] positive regulation of transcription Sp1-1 site | positive regulation of transcription | Sp1 transcription factor -chr17 72120843 72120852 protein_bind: Sp1 transcription factor 0 + 72120843 72120852 192,0,0 protein_binding_site Sp1-2 site 108021846|GeneID:108021846 17289023|PMID:17289023 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17289023] positive regulation of transcription Sp1-2 site | positive regulation of transcription | Sp1 transcription factor -chr17 72120861 72120887 protein_bind: cAMP responsive element binding protein 1 0 + 72120861 72120887 192,0,0 protein_binding_site CREB probe 108021846|GeneID:108021846 17289023|PMID:17289023 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17289023] positive regulation of transcription CREB probe | positive regulation of transcription | cAMP responsive element binding protein 1 -chr17 72120906 72121052 promoter 0 + 72120906 72121052 0,128,128 promoter -113 to +33 promoter fragment 108021846|GeneID:108021846 11606049|PMID:11606049 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11606049] core promoter -113 to +33 promoter fragment | core promoter -chr17 72120911 72120936 protein_bind: nuclear transcription factor Y subunit alpha 0 + 72120911 72120936 192,0,0 protein_binding_site CBF-B CCAAT-1 site 108021846|GeneID:108021846 15908194|PMID:15908194 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15908194] positive regulation of transcription CBF-B CCAAT-1 site | positive regulation of transcription | nuclear transcription factor Y subunit alpha -chr17 72120946 72120970 protein_bind: nuclear transcription factor Y subunit alpha 0 + 72120946 72120970 192,0,0 protein_binding_site CBF-B CCAAT-2 site 108021846|GeneID:108021846 15908194|PMID:15908194 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15908194] positive regulation of transcription CBF-B CCAAT-2 site | positive regulation of transcription | nuclear transcription factor Y subunit alpha -chr17 72122661 72122691 enhancer 0 + 72122661 72122691 0,128,128 enhancer +1643 to +1672 fragment 108021846|GeneID:108021846,6662|GeneID:6662 11606049|PMID:11606049 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11606049] enhancer in ATDC5 chondrogenic cell line +1643 to +1672 fragment | enhancer in ATDC5 chondrogenic cell line -chr17 72219295 72220434 enhancer 0 + 72219295 72220434 0,128,128 enhancer E7 108021842|GeneID:108021842 16458883|PMID:16458883 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16458883] enhancer in telencephalon and midbrain E7 | enhancer in telencephalon and midbrain -chr17 75723180 75723829 CAGE_cluster 0 + 75723180 75723829 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254686|GeneID:108254686,3691|GeneID:3691 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr17 75723193 75723745 enhancer 0 + 75723193 75723745 0,128,128 enhancer amplified fragment containing most of the chr17:73719261-73719909 (GRCh37) CAGE region 108254686|GeneID:108254686,3691|GeneID:3691 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr17:73719261-73719909 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr17 80254676 80255141 CAGE_cluster 0 + 80254676 80255141 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281162|GeneID:108281162 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr17 80254698 80255234 enhancer 0 + 80254698 80255234 0,128,128 enhancer amplified fragment containing most of the chr17:78228476-78228940 CAGE region 108281162|GeneID:108281162 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr17:78228476-78228940 CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr17 82297921 82298599 CAGE_cluster 0 + 82297921 82298599 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254691|GeneID:108254691 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr17 82297936 82298568 enhancer 0 + 82297936 82298568 0,128,128 enhancer amplified fragment containing most of the chr17:80255798-80256475 (GRCh37) CAGE region 108254691|GeneID:108254691 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr17:80255798-80256475 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr17 82870852 82872050 enhancer 0 + 82870852 82872050 0,128,128 enhancer amplified fragment containing the chr17:80828733-80829926 (GRCh37) CAGE-defined region 108348028|GeneID:108348028,6904|GeneID:6904 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr17:80828733-80829926 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr17 83110143 83110740 enhancer 0 + 83110143 83110740 0,128,128 enhancer amplified fragment containing the FANTOM5 chr17:81067352-81067511 (GRCh37) CAGE region 108178995|GeneID:108178995 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the FANTOM5 chr17:81067352-81067511 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr17 83110401 83110561 CAGE_cluster 0 + 83110401 83110561 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108178995|GeneID:108178995,101930496|GeneID:101930496 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr17_KI270857v1_alt 890912 891622 enhancer 0 + 890912 891622 0,128,128 enhancer VISTA enhancer hs362 110120862|GeneID:110120862 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs362 | enhancer in: limb[3/5] -chr17_KI270857v1_alt 1208413 1209009 enhancer 0 + 1208413 1209009 0,128,128 enhancer VISTA enhancer hs363 110120863|GeneID:110120863,26574|GeneID:26574 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/6] VISTA enhancer hs363 | enhancer in: hindbrain (rhombencephalon)[6/6] -chr17_KI270857v1_alt 2764056 2764279 enhancer 0 + 2764056 2764279 0,128,128 enhancer control region 19, which was negatively scoring by a predictive classifier 108004529|GeneID:108004529,4302|GeneID:4302 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart control region 19, which was negatively scoring by a predictive classifier | enhancer in heart -chr17_KI270858v1_alt 159963 160506 enhancer 0 + 159963 160506 0,128,128 enhancer enh4 108004550|GeneID:108004550 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh4 -chr17_KI270858v1_alt 217572 218292 enhancer 0 + 217572 218292 0,128,128 enhancer enh5 108004549|GeneID:108004549 21408189|PMID:21408189 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21408189] enh5 -chr18 12208714 12209348 enhancer 0 + 12208714 12209348 0,128,128 enhancer amplified fragment containing the chr18:12209000-12209007 (GRCh37) region with regulatory potential 108318665|GeneID:108318665,497259|GeneID:497259 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr18:12209000-12209007 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr18 12209000 12209008 epigenetically_modified_region 0 + 12209000 12209008 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108318665|GeneID:108318665,497259|GeneID:497259 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr18 12277696 12281651 enhancer 0 + 12277696 12281651 0,128,128 enhancer VISTA enhancer hs1751 110121440|GeneID:110121440 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/8] VISTA enhancer hs1751 | enhancer in: heart[8/8] -chr18 21758990 21761961 enhancer 0 + 21758990 21761961 0,128,128 enhancer VISTA enhancer hs1650 110121420|GeneID:110121420,57534|GeneID:57534 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[5/7] | forebrain[5/7] VISTA enhancer hs1650 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[5/7] | forebrain[5/7] -chr18 22194021 22194570 enhancer 0 + 22194021 22194570 0,128,128 enhancer VISTA enhancer hs502 110120885|GeneID:110120885,2627|GeneID:2627 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/11] VISTA enhancer hs502 | enhancer in: heart[8/11] -chr18 22469680 22472941 enhancer 0 + 22469680 22472941 0,128,128 enhancer VISTA enhancer hs1667 110121423|GeneID:110121423 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/6] VISTA enhancer hs1667 | enhancer in: heart[5/6] -chr18 24656021 24657424 enhancer 0 + 24656021 24657424 0,128,128 enhancer VISTA enhancer hs1169 110121328|GeneID:110121328,729950|GeneID:729950 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] | forebrain[5/8] | trigeminal V (ganglion, cranial)[4/8] VISTA enhancer hs1169 | enhancer in: midbrain (mesencephalon)[7/8] | forebrain[5/8] | trigeminal V (ganglion, cranial)[4/8] -chr18 25036866 25038718 enhancer 0 + 25036866 25038718 0,128,128 enhancer VISTA enhancer hs1180 110121329|GeneID:110121329 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/6] VISTA enhancer hs1180 | enhancer in: midbrain (mesencephalon)[5/6] -chr18 25112451 25113676 enhancer 0 + 25112451 25113676 0,128,128 enhancer VISTA enhancer hs367 110120864|GeneID:110120864 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/10] | limb[3/10] VISTA enhancer hs367 | enhancer in: midbrain (mesencephalon)[3/10] | limb[3/10] -chr18 25164703 25166306 enhancer 0 + 25164703 25166306 0,128,128 enhancer VISTA enhancer hs1027 110121315|GeneID:110121315 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/9] | forebrain[5/9] VISTA enhancer hs1027 | enhancer in: hindbrain (rhombencephalon)[4/9] | forebrain[5/9] -chr18 25228369 25230020 enhancer 0 + 25228369 25230020 0,128,128 enhancer VISTA enhancer hs1653 110121421|GeneID:110121421 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[5/8] VISTA enhancer hs1653 | enhancer in: blood vessels[5/8] -chr18 25284788 25286493 enhancer 0 + 25284788 25286493 0,128,128 enhancer VISTA enhancer hs369 110120865|GeneID:110120865 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] | heart[5/9] VISTA enhancer hs369 | enhancer in: hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] | heart[5/9] -chr18 25464142 25466889 enhancer 0 + 25464142 25466889 0,128,128 enhancer VISTA enhancer hs1544 110121394|GeneID:110121394 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[4/5] VISTA enhancer hs1544 | enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[4/5] -chr18 25852758 25854861 enhancer 0 + 25852758 25854861 0,128,128 enhancer VISTA enhancer hs1566 110121398|GeneID:110121398 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs1566 | enhancer in: forebrain[4/5] -chr18 27920940 27924250 enhancer 0 + 27920940 27924250 0,128,128 enhancer VISTA enhancer hs1636 110121417|GeneID:110121417 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/7] VISTA enhancer hs1636 | enhancer in: forebrain[5/7] -chr18 28083898 28088892 enhancer 0 + 28083898 28088892 0,128,128 enhancer VISTA enhancer hs1634 110121416|GeneID:110121416 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[7/8] | cranial nerve[7/8] VISTA enhancer hs1634 | enhancer in: branchial arch[7/8] | cranial nerve[7/8] -chr18 31486195 31490343 enhancer 0 + 31486195 31490343 0,128,128 enhancer VISTA enhancer hs2166 110121493|GeneID:110121493 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/10] | other[6/10] VISTA enhancer hs2166 | enhancer in: heart[3/10] | other[6/10] -chr18 37139422 37140757 enhancer 0 + 37139422 37140757 0,128,128 enhancer VISTA enhancer hs590 110120900|GeneID:110120900,57536|GeneID:57536 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] VISTA enhancer hs590 | enhancer in: forebrain[5/6] -chr18 37483518 37484565 enhancer 0 + 37483518 37484565 0,128,128 enhancer VISTA enhancer hs371 110120866|GeneID:110120866 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] VISTA enhancer hs371 | enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] -chr18 39183798 39184827 enhancer 0 + 39183798 39184827 0,128,128 enhancer VISTA enhancer hs851 110120940|GeneID:110120940 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] VISTA enhancer hs851 | enhancer in: midbrain (mesencephalon)[4/6] -chr18 44742357 44746036 enhancer 0 + 44742357 44746036 0,128,128 enhancer VISTA enhancer hs1362 110121352|GeneID:110121352,26040|GeneID:26040 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] | forebrain[6/6] | cranial nerve[5/6] | other[6/6] VISTA enhancer hs1362 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] | forebrain[6/6] | cranial nerve[5/6] | other[6/6] -chr18 45362397 45364170 enhancer 0 + 45362397 45364170 0,128,128 enhancer VISTA enhancer hs1363 110121353|GeneID:110121353,8170|GeneID:8170 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/7] | forebrain[4/7] VISTA enhancer hs1363 | enhancer in: midbrain (mesencephalon)[5/7] | forebrain[4/7] -chr18 45553090 45555264 enhancer 0 + 45553090 45555264 0,128,128 enhancer VISTA enhancer hs1464 110121371|GeneID:110121371,8170|GeneID:8170 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/6] VISTA enhancer hs1464 | enhancer in: limb[4/6] -chr18 45588381 45590764 enhancer 0 + 45588381 45590764 0,128,128 enhancer VISTA enhancer hs1440 110121367|GeneID:110121367,8170|GeneID:8170 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | limb[5/5] | branchial arch[4/5] | other[5/5] VISTA enhancer hs1440 | enhancer in: hindbrain (rhombencephalon)[4/5] | limb[5/5] | branchial arch[4/5] | other[5/5] -chr18 47560918 47561703 enhancer 0 + 47560918 47561703 0,128,128 enhancer VISTA enhancer hs679 110120920|GeneID:110120920,110175910|GeneID:110175910 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/7] VISTA enhancer hs679 | enhancer in: hindbrain (rhombencephalon)[5/7] -chr18 51753003 51755110 enhancer 0 + 51753003 51755110 0,128,128 enhancer VISTA enhancer hs1726 110121438|GeneID:110121438 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/6] VISTA enhancer hs1726 | enhancer in: hindbrain (rhombencephalon)[4/6] -chr18 52046214 52048141 enhancer 0 + 52046214 52048141 0,128,128 enhancer VISTA enhancer hs1384 110121357|GeneID:110121357 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[9/11] | forebrain[9/11] | nose[6/11] VISTA enhancer hs1384 | enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[9/11] | forebrain[9/11] | nose[6/11] -chr18 55032638 55033995 enhancer 0 + 55032638 55033995 0,128,128 enhancer VISTA enhancer hs1013 110121313|GeneID:110121313 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] VISTA enhancer hs1013 | enhancer in: forebrain[4/6] -chr18 55351446 55352813 enhancer 0 + 55351446 55352813 0,128,128 enhancer VISTA enhancer hs1537 110121390|GeneID:110121390 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] VISTA enhancer hs1537 | enhancer in: forebrain[5/6] -chr18 55422393 55423848 enhancer 0 + 55422393 55423848 0,128,128 enhancer VISTA enhancer hs376 110120867|GeneID:110120867 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/12] | hindbrain (rhombencephalon)[8/12] | midbrain (mesencephalon)[6/12] VISTA enhancer hs376 | enhancer in: neural tube[8/12] | hindbrain (rhombencephalon)[8/12] | midbrain (mesencephalon)[6/12] -chr18 55586153 55586229 tandem 0 - 55586153 55586229 0,0,192 repeat_region 109609705|GeneID:109609705,6925|GeneID:6925 repeat_region -chr18 55586157 55586229 repeat_instability_region 0 - 55586157 55586229 192,0,192 sequence_feature repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) is associated with Fuchs' endothelial corneal dystrophy (FECD) 109609705|GeneID:109609705,6925|GeneID:6925 9302263|PMID:9302263,26200491|PMID:26200491 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9302263, PMID:26200491] repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) is associated with Fuchs' endothelial corneal dystrophy (FECD) -chr18 58804414 58807634 enhancer 0 + 58804414 58807634 0,128,128 enhancer VISTA enhancer hs1397 110121361|GeneID:110121361 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[6/6] | ear[5/6] VISTA enhancer hs1397 | enhancer in: nose[6/6] | ear[5/6] -chr18 59459818 59463876 meiotic 0 + 59459818 59463876 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457597|GeneID:107457597 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr18 59461112 59461128 nucleotide_motif 0 + 59461112 59461128 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457597|GeneID:107457597 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59461196 59464064 meiotic 0 + 59461196 59464064 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457597|GeneID:107457597 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr18 59462238 59464057 meiotic 0 + 59462238 59464057 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457597|GeneID:107457597 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr18 59462293 59463893 meiotic 0 + 59462293 59463893 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457597|GeneID:107457597 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr18 59462628 59462641 nucleotide_motif 0 + 59462628 59462641 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107457597|GeneID:107457597 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr18 59463171 59463184 nucleotide_motif 0 + 59463171 59463184 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107457597|GeneID:107457597 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr18 59545519 59546921 meiotic 0 + 59545519 59546921 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457587|GeneID:107457587 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr18 59546385 59548285 meiotic 0 + 59546385 59548285 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457587|GeneID:107457587 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr18 59546533 59546924 meiotic 0 + 59546533 59546924 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457587|GeneID:107457587 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr18 59546617 59548337 meiotic 0 + 59546617 59548337 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457587|GeneID:107457587 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr18 59547036 59547052 nucleotide_motif 0 + 59547036 59547052 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59547056 59547072 nucleotide_motif 0 + 59547056 59547072 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59547078 59547094 nucleotide_motif 0 + 59547078 59547094 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59547096 59547112 nucleotide_motif 0 + 59547096 59547112 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59547120 59547136 nucleotide_motif 0 + 59547120 59547136 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59547163 59547179 nucleotide_motif 0 + 59547163 59547179 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr18 59547214 59547227 nucleotide_motif 0 + 59547214 59547227 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107457587|GeneID:107457587 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr18 59547267 59547280 nucleotide_motif 0 + 59547267 59547280 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107457587|GeneID:107457587 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr18 63454465 63454989 enhancer 0 + 63454465 63454989 0,128,128 enhancer amplified fragment containing the chr18:61121848-61122109 (GRCh37) CAGE region 108281158|GeneID:108281158 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr18:61121848-61122109 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr18 63454614 63454876 CAGE_cluster 0 + 63454614 63454876 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281158|GeneID:108281158 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr18 65411025 65411603 enhancer 0 + 65411025 65411603 0,128,128 enhancer VISTA enhancer hs947 110120953|GeneID:110120953 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/6] VISTA enhancer hs947 | enhancer in: forebrain[3/6] -chr18 73325047 73328058 retrotransposon:HERVH-int 0 + 73325047 73328058 0,0,192 mobile_genetic_element 107992389|GeneID:107992389,100505817|GeneID:100505817 mobile_genetic_element -chr18 73326134 73326195 non_allelic_homologous 0 + 73326134 73326195 160,82,45 recombination_feature chr18 18q-146C recombination sub-region, recombines with the chr4 18q-146C recombination sub-region within the chr 4 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation 107992389|GeneID:107992389,100505817|GeneID:100505817 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] chr18 18q-146C recombination sub-region, recombines with the chr4 18q-146C recombination sub-region within the chr 4 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation -chr18 73326264 73326363 non_allelic_homologous 0 + 73326264 73326363 160,82,45 recombination_feature chr18 18q-82C recombination sub-region, recombines with the chr4 18q-82 recombination sub-region within the chr 4 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation 107992389|GeneID:107992389,100505817|GeneID:100505817 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] chr18 18q-82C recombination sub-region, recombines with the chr4 18q-82 recombination sub-region within the chr 4 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation -chr18 74645518 74646377 enhancer 0 + 74645518 74646377 0,128,128 enhancer VISTA enhancer hs378 110120868|GeneID:110120868,55628|GeneID:55628 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs378 | enhancer in: limb[3/5] -chr18 74855715 74857326 enhancer 0 + 74855715 74857326 0,128,128 enhancer VISTA enhancer hs824 110120935|GeneID:110120935,55628|GeneID:55628 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/6] VISTA enhancer hs824 | enhancer in: limb[6/6] -chr18 77784381 77786551 enhancer 0 + 77784381 77786551 0,128,128 enhancer VISTA enhancer hs1020 110121314|GeneID:110121314 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/9] | hindbrain (rhombencephalon)[8/9] VISTA enhancer hs1020 | enhancer in: neural tube[4/9] | hindbrain (rhombencephalon)[8/9] -chr18 77857616 77858906 enhancer 0 + 77857616 77858906 0,128,128 enhancer VISTA enhancer hs1186 110121330|GeneID:110121330 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] VISTA enhancer hs1186 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] -chr18 78246819 78248476 enhancer 0 + 78246819 78248476 0,128,128 enhancer VISTA enhancer hs634 110120915|GeneID:110120915 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/17] | hindbrain (rhombencephalon)[8/17] | midbrain (mesencephalon)[8/17] | forebrain[8/17] VISTA enhancer hs634 | enhancer in: neural tube[8/17] | hindbrain (rhombencephalon)[8/17] | midbrain (mesencephalon)[8/17] | forebrain[8/17] -chr18 78701275 78702723 enhancer 0 + 78701275 78702723 0,128,128 enhancer VISTA enhancer hs1011 110121312|GeneID:110121312 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/7] VISTA enhancer hs1011 | enhancer in: forebrain[5/7] -chr18 78721721 78723257 enhancer 0 + 78721721 78723257 0,128,128 enhancer VISTA enhancer hs1056 110121318|GeneID:110121318 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/8] | midbrain (mesencephalon)[5/8] | forebrain[7/8] VISTA enhancer hs1056 | enhancer in: neural tube[5/8] | midbrain (mesencephalon)[5/8] | forebrain[7/8] -chr18 79250008 79250795 enhancer 0 + 79250008 79250795 0,128,128 enhancer VISTA enhancer hs775 110120931|GeneID:110120931,374868|GeneID:374868 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/4] VISTA enhancer hs775 | enhancer in: forebrain[3/4] -chr18_GL383570v1_alt 66532 68639 enhancer 0 - 66532 68639 0,128,128 enhancer VISTA enhancer hs1726 110121438|GeneID:110121438 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/6] VISTA enhancer hs1726 | enhancer in: hindbrain (rhombencephalon)[4/6] -chr19 290055 290569 enhancer 0 + 290055 290569 0,128,128 enhancer amplified fragment containing most of the chr19:290136-290651 (GRCh37) CAGE region 108281123|GeneID:108281123 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr19:290136-290651 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr19 290135 290651 CAGE_cluster 0 + 290135 290651 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281123|GeneID:108281123 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr19 1172635 1173194 enhancer 0 + 1172635 1173194 0,128,128 enhancer amplified fragment containing most of the chr19:1172839-1173266 (GRCh37) CAGE region 108254692|GeneID:108254692,102725180|GeneID:102725180 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr19:1172839-1173266 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr19 1172839 1173267 CAGE_cluster 0 + 1172839 1173267 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254692|GeneID:108254692,102725180|GeneID:102725180 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr19 1212570 1212843 SINE:AluYm1 0 + 1212570 1212843 0,0,192 mobile_genetic_element direction; reverse 110006317|GeneID:110006317,6794|GeneID:6794 direction; reverse -chr19 1212795 1213248 non_allelic_homologous 0 + 1212795 1213248 160,82,45 recombination_feature recombines with the serine/threonine kinase 11 intron 3 Alu-mediated recombination region 110006317|GeneID:110006317,6794|GeneID:6794 20435009|PMID:20435009,20623358|PMID:20623358,21118512|PMID:21118512,22775437|PMID:22775437,25841653|PMID:25841653 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25841653, PMID:20435009, PMID:22775437, PMID:21118512, PMID:20623358] recombines with the serine/threonine kinase 11 intron 3 Alu-mediated recombination region -chr19 1212854 1212979 SINE:AluJr 0 + 1212854 1212979 0,0,192 mobile_genetic_element direction; reverse 110006317|GeneID:110006317,6794|GeneID:6794 direction; reverse -chr19 1212990 1213295 SINE:AluY 0 + 1212990 1213295 0,0,192 mobile_genetic_element direction; reverse 110006317|GeneID:110006317,6794|GeneID:6794 direction; reverse -chr19 1219530 1219844 SINE:AluY 0 + 1219530 1219844 0,0,192 mobile_genetic_element direction; reverse 110006318|GeneID:110006318,6794|GeneID:6794 direction; reverse -chr19 1219550 1219797 non_allelic_homologous 0 + 1219550 1219797 160,82,45 recombination_feature recombines with the serine/threonine kinase 11 intron 1 Alu-mediated recombination region 110006318|GeneID:110006318,6794|GeneID:6794 20435009|PMID:20435009,20623358|PMID:20623358,21118512|PMID:21118512,22775437|PMID:22775437,25841653|PMID:25841653 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25841653, PMID:20435009, PMID:22775437, PMID:21118512, PMID:20623358] recombines with the serine/threonine kinase 11 intron 1 Alu-mediated recombination region -chr19 2246333 2247411 enhancer 0 + 2246333 2247411 0,128,128 enhancer SacI/NheI fragment for -3068 to -1921; contains putative AP2 and NFkB binding sites 108783649|GeneID:108783649,8175|GeneID:8175 12554789|PMID:12554789 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12554789] mediates response to cyclic AMP SacI/NheI fragment for -3068 to -1921; contains putative AP2 and NFkB binding sites | mediates response to cyclic AMP -chr19 2246333 2249332 promoter 0 + 2246333 2249332 0,128,128 promoter SacI/AvrII fragment for -3068 promoter 108783649|GeneID:108783649 12554789|PMID:12554789 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12554789] cyclic AMP responsive promoter SacI/AvrII fragment for -3068 promoter | cyclic AMP responsive promoter -chr19 2247266 2249301 promoter 0 + 2247266 2249301 0,128,128 promoter StuI/AflII fragment for 2 kb promoter 108783649|GeneID:108783649 1331774|PMID:1331774 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1331774] drives expression in the gonads StuI/AflII fragment for 2 kb promoter | drives expression in the gonads -chr19 2247541 2247571 response_element 0 + 2247541 2247571 0,128,128 regulatory_region estrogen response element; -1780 to -1751 108783649|GeneID:108783649,8175|GeneID:8175 2325025|PMID:2325025 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2325025] estrogen response element estrogen response element; -1780 to -1751 | estrogen response element -chr19 2247549 2247563 protein_bind: estrogen receptor 1 0 + 2247549 2247563 192,0,0 protein_binding_site estrogen response element 108783649|GeneID:108783649,8175|GeneID:8175 2325025|PMID:2325025 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:2325025] estrogen response element | estrogen receptor 1 -chr19 2248937 2248952 protein_bind: retinoid X receptor 0 + 2248937 2248952 192,0,0 protein_binding_site VDRE 108783649|GeneID:108783649 19056816|PMID:19056816 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19056816] VDRE | retinoid X receptor -chr19 2248937 2248952 protein_bind: vitamin D (1,25- dihydroxyvitamin D3) receptor 0 + 2248937 2248952 192,0,0 protein_binding_site VDRE 108783649|GeneID:108783649 19056816|PMID:19056816 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19056816] VDRE | vitamin D (1,25- dihydroxyvitamin D3) receptor -chr19 2248937 2248952 response_element 0 + 2248937 2248952 0,128,128 regulatory_region VDRE (vitamin D response element) 108783649|GeneID:108783649 19056816|PMID:19056816 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19056816] mediates response to vitamin D and calcitriol VDRE (vitamin D response element) | mediates response to vitamin D and calcitriol -chr19 2249052 2249332 promoter 0 + 2249052 2249332 0,128,128 promoter -269 promoter 108783649|GeneID:108783649 10677509|PMID:10677509,10993829|PMID:10993829 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10677509, PMID:10993829] -269 promoter -chr19 2249104 2249114 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2249104 2249114 192,0,0 protein_binding_site distal SF1 site 108783649|GeneID:108783649 10677509|PMID:10677509 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10677509] positive regulation of promoter activity distal SF1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr19 2249110 2249128 protein_bind: forkhead box L2 0 + 2249110 2249128 192,0,0 protein_binding_site -206 to -200 FOXL2 site 108783649|GeneID:108783649 24973035|PMID:24973035 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24973035] positive regulation of promoter activity -206 to -200 FOXL2 site | positive regulation of promoter activity | forkhead box L2 -chr19 2249122 2249332 promoter 0 + 2249122 2249332 0,128,128 promoter -210 promoter 108783649|GeneID:108783649 9815658|PMID:9815658 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9815658] -210 promoter -chr19 2249135 2249168 protein_bind: Wilms tumor 1 0 + 2249135 2249168 192,0,0 protein_binding_site MIS-175 108783649|GeneID:108783649 9815658|PMID:9815658 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9815658] MIS-175 | Wilms tumor 1 -chr19 2249154 2249160 protein_bind: GATA binding protein 4 0 + 2249154 2249160 192,0,0 protein_binding_site distal GATA site 108783649|GeneID:108783649 10677509|PMID:10677509 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10677509] positive regulation of promoter activity distal GATA site | positive regulation of promoter activity | GATA binding protein 4 -chr19 2249168 2249196 protein_bind: SRY-box 9 0 + 2249168 2249196 192,0,0 protein_binding_site SOX-BS 108783649|GeneID:108783649 9774680|PMID:9774680 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9774680] synergizes with Nr5a1 to positively regulate promoter activity SOX-BS | synergizes with Nr5a1 to positively regulate promoter activity | SRY-box 9 -chr19 2249193 2249226 protein_bind: Wilms tumor 1 0 + 2249193 2249226 192,0,0 protein_binding_site MIS-117 108783649|GeneID:108783649 9815658|PMID:9815658 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9815658] MIS-117 | Wilms tumor 1 -chr19 2249219 2249240 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2249219 2249240 192,0,0 protein_binding_site SF-1-BS 108783649|GeneID:108783649 9774680|PMID:9774680 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9774680] positive regulation of promoter activity SF-1-BS | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr19 2249248 2249254 protein_bind: GATA binding protein 4 0 + 2249248 2249254 192,0,0 protein_binding_site proximal GATA site 108783649|GeneID:108783649 10677509|PMID:10677509 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10677509] positive regulation of promoter activity proximal GATA site | positive regulation of promoter activity | GATA binding protein 4 -chr19 2249262 2249276 protein_bind: forkhead box L2 0 + 2249262 2249276 192,0,0 protein_binding_site -55 to -49 FOXL2 site 108783649|GeneID:108783649 24973035|PMID:24973035 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24973035] positive regulation of promoter activity -55 to -49 FOXL2 site | positive regulation of promoter activity | forkhead box L2 -chr19 2249263 2249278 protein_bind: sex determining region Y 0 + 2249263 2249278 192,0,0 protein_binding_site SRYe site 108783649|GeneID:108783649 7985018|PMID:7985018 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7985018] SRYe site | sex determining region Y -chr19 2249300 2249332 promoter 0 + 2249300 2249332 0,128,128 promoter -22 to +10 basal promoter; hMIS Inr 108783649|GeneID:108783649,268|GeneID:268 10993829|PMID:10993829 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10993829] basal promoter -22 to +10 basal promoter; hMIS Inr | basal promoter -chr19 2249300 2249332 protein_bind: general transcription factor IIi 0 + 2249300 2249332 192,0,0 protein_binding_site hMIS Inr 108783649|GeneID:108783649,268|GeneID:268 10993829|PMID:10993829 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10993829] hMIS Inr | general transcription factor IIi -chr19 2426873 2428373 DNase_I_hypersensitive_site 0 + 2426873 2428373 0,128,128 region DH1-3; the nucleotide coordinates are approximate for this feature 106804547|GeneID:106804547 8643660|PMID:8643660 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8643660] DH1-3; the nucleotide coordinates are approximate for this feature -chr19 2427220 2428033 replication_regulatory_region 0 + 2427220 2428033 0,128,128 region NotI/NruI fragment for CpG island 106804547|GeneID:106804547 15024083|PMID:15024083 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:15024083] contributes to origin activity in transgene in ectopic contexts NotI/NruI fragment for CpG island | contributes to origin activity in transgene in ectopic contexts -chr19 2427220 2428317 rep_origin: NruI/PvuII pB48 fragment 0 + 2427220 2428317 0,0,0 origin_of_replication NruI/PvuII pB48 fragment; site of labeled nascent strand synthesis 106804547|GeneID:106804547 1291239|PMID:1291239,1630457|PMID:1630457,8041756|PMID:8041756,15024083|PMID:15024083 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:1291239, PMID:1630457, PMID:8041756, PMID:15024083] functions as an origin of replication when moved to ectopic genomic contexts NruI/PvuII pB48 fragment; site of labeled nascent strand synthesis | functions as an origin of replication when moved to ectopic genomic contexts -chr19 2427827 2428347 rep_origin: B48BISSX-B48TERDX amplicon 0 + 2427827 2428347 0,0,0 origin_of_replication B48BISSX-B48TERDX amplicon; peak of nascent strand synthesis determined by competitive PCR of labeled nascent strands 106804547|GeneID:106804547 1291239|PMID:1291239,1487146|PMID:1487146,8041756|PMID:8041756 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:1291239, PMID:1487146, PMID:8041756] inferred origin of bidirectional replication (OBR) B48BISSX-B48TERDX amplicon; peak of nascent strand synthesis determined by competitive PCR of labeled nascent strands | inferred origin of bidirectional replication (OBR) -chr19 2427940 2427966 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 2427940 2427966 192,0,0 protein_binding_site E-box 106804547|GeneID:106804547 22772991|PMID:22772991 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22772991] binding in early G1 may promote loading of Mcm4; methylation sensitive E-box | binding in early G1 may promote loading of Mcm4; methylation sensitive | v-myc avian myelocytomatosis viral oncogene homolog -chr19 2427997 2428289 replication_regulatory_region 0 + 2427997 2428289 0,128,128 region AT-rich origin protected region (OPR) replaced in eLamB2-mut 106804547|GeneID:106804547 15024083|PMID:15024083,15121836|PMID:15121836 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:15024083, PMID:15121836] important for origin activity in ectopic contexts AT-rich origin protected region (OPR) replaced in eLamB2-mut | important for origin activity in ectopic contexts -chr19 2428077 2428310 protein_bind: X-ray repair complementing defective repair in Chinese hamster cells 5 0 + 2428077 2428310 192,0,0 protein_binding_site 106804547|GeneID:106804547 23781282|PMID:23781282 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23781282] protein_binding_site | X-ray repair complementing defective repair in Chinese hamster cells 5 -chr19 2428077 2428310 protein_bind: X-ray repair complementing defective repair in Chinese hamster cells 6 0 + 2428077 2428310 192,0,0 protein_binding_site 106804547|GeneID:106804547 23781282|PMID:23781282 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23781282] protein_binding_site | X-ray repair complementing defective repair in Chinese hamster cells 6 -chr19 2428095 2428336 protein_bind: cell division cycle 6 0 + 2428095 2428336 192,0,0 protein_binding_site 241 bp fragment 106804547|GeneID:106804547 12902329|PMID:12902329 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12902329] 241 bp fragment | cell division cycle 6 -chr19 2428095 2428336 protein_bind: origin recognition complex subunit 2 0 + 2428095 2428336 192,0,0 protein_binding_site 241 bp fragment 106804547|GeneID:106804547 12902329|PMID:12902329 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12902329] 241 bp fragment | origin recognition complex subunit 2 -chr19 2428154 2428228 protein_bind: homeobox C10 0 + 2428154 2428228 192,0,0 protein_binding_site 74 bp probe; contains two binding sites 106804547|GeneID:106804547 10835276|PMID:10835276 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10835276] 74 bp probe; contains two binding sites | homeobox C10 -chr19 2428154 2428228 protein_bind: homeobox C13 0 + 2428154 2428228 192,0,0 protein_binding_site 74 bp probe; contains two binding sites 106804547|GeneID:106804547 10835276|PMID:10835276 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10835276] 74 bp probe; contains two binding sites | homeobox C13 -chr19 2428178 2428179 replication_start_site 0 + 2428178 2428179 192,0,192 sequence_feature replication start site; identified by primer extension of one-way PCR of nascent strands 106804547|GeneID:106804547 22983127|PMID:22983127 EXISTENCE:primer extension assay evidence [ECO:0001819][PMID:22983127] initiation site of forward/rightward leading strand synthesis replication start site; identified by primer extension of one-way PCR of nascent strands | initiation site of forward/rightward leading strand synthesis -chr19 2428191 2428193 nucleotide_cleavage_site 0 + 2428191 2428193 192,0,192 sequence_feature nucleotide cleavage site; topoisomerase (DNA) I; lower strand 106804547|GeneID:106804547 17290216|PMID:17290216 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:17290216] nucleotide cleavage site; topoisomerase (DNA) I; lower strand -chr19 2428195 2428297 protein_bind: origin recognition complex subunit 4 0 + 2428195 2428297 192,0,0 protein_binding_site lbo I footprint 106804547|GeneID:106804547 12902329|PMID:12902329,19690980|PMID:19690980 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12902329, PMID:19690980] lbo I footprint | origin recognition complex subunit 4 -chr19 2428207 2428209 nucleotide_cleavage_site 0 + 2428207 2428209 192,0,192 sequence_feature nucleotide cleavage site; topoisomerase (DNA) I; lower strand 106804547|GeneID:106804547 17290216|PMID:17290216 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:17290216] nucleotide cleavage site; topoisomerase (DNA) I; lower strand -chr19 2428215 2428216 replication_start_site 0 + 2428215 2428216 192,0,192 sequence_feature replication start site; identified by primer extension of ligation-mediated PCR of lamba exonuclease protected nascent strands 106804547|GeneID:106804547 10720330|PMID:10720330 EXISTENCE:primer extension assay evidence [ECO:0001819][PMID:10720330] initiation site of forward/rightward leading strand synthesis replication start site; identified by primer extension of ligation-mediated PCR of lamba exonuclease protected nascent strands | initiation site of forward/rightward leading strand synthesis -chr19 2428218 2428219 replication_start_site 0 + 2428218 2428219 192,0,192 sequence_feature replication start site; identified by primer extension of ligation-mediated PCR of lamba exonuclease protected nascent strands 106804547|GeneID:106804547 10720330|PMID:10720330 EXISTENCE:primer extension assay evidence [ECO:0001819][PMID:10720330] initiation site of reverse/leftward leading strand synthesis replication start site; identified by primer extension of ligation-mediated PCR of lamba exonuclease protected nascent strands | initiation site of reverse/leftward leading strand synthesis -chr19 2428233 2428235 nucleotide_cleavage_site 0 + 2428233 2428235 192,0,192 sequence_feature nucleotide cleavage site; topoisomerase (DNA) I; upper strand 106804547|GeneID:106804547 17290216|PMID:17290216 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:17290216] nucleotide cleavage site; topoisomerase (DNA) I; upper strand -chr19 2428257 2428259 nucleotide_cleavage_site 0 + 2428257 2428259 192,0,192 sequence_feature nucleotide cleavage site; topoisomerase (DNA) I; upper strand 106804547|GeneID:106804547 17290216|PMID:17290216 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:17290216] nucleotide cleavage site; topoisomerase (DNA) I; upper strand -chr19 2667813 2669082 enhancer 0 + 2667813 2669082 0,128,128 enhancer amplified fragment containing the chr19:2667812-2669080 (GRCh37) CAGE-defined region 108348031|GeneID:108348031 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr19:2667812-2669080 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr19 10180919 10181330 rep_origin: c3 region 0 + 10180919 10181330 0,0,0 origin_of_replication c3 region; peak of nascent strand synthesis detected by competitive PCR of size-fractioned DNA 107080555|GeneID:107080555 10092611|PMID:10092611 EXISTENCE:fractionation evidence [ECO:0000100][PMID:10092611] c3 region; peak of nascent strand synthesis detected by competitive PCR of size-fractioned DNA -chr19 10182232 10184637 rep_origin: 2.38 kb c1 construct 0 + 10182232 10184637 0,0,0 origin_of_replication 2.38 kb c1 construct; promotes replication of a plasmid as detected by bromodeoxyuridine incorporation into nascent DNA 107080555|GeneID:107080555 10092611|PMID:10092611 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:10092611] 2.38 kb c1 construct; promotes replication of a plasmid as detected by bromodeoxyuridine incorporation into nascent DNA -chr19 10183994 10184398 rep_origin: c1 region 0 + 10183994 10184398 0,0,0 origin_of_replication c1 region; peak of nascent strand synthesis detected by competitive PCR of size-fractioned DNA 107080555|GeneID:107080555 10092611|PMID:10092611 EXISTENCE:fractionation evidence [ECO:0000100][PMID:10092611] c1 region; peak of nascent strand synthesis detected by competitive PCR of size-fractioned DNA -chr19 11141254 11144027 enhancer 0 + 11141254 11144027 0,128,128 enhancer VISTA enhancer hs1754 110121441|GeneID:110121441 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[9/11] VISTA enhancer hs1754 | enhancer in: heart[9/11] -chr19 13052696 13056541 enhancer 0 + 13052696 13056541 0,128,128 enhancer VISTA enhancer hs1900 110121458|GeneID:110121458,4784|GeneID:4784 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[3/7] VISTA enhancer hs1900 | enhancer in: ear[3/7] -chr19 13207858 13207897 repeat_instability_region 0 + 13207858 13207897 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG repeat relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 6 108663985|GeneID:108663985 8988170|PMID:8988170 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:8988170] repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG repeat relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 6 -chr19 13207858 13207898 tandem 0 + 13207858 13207898 0,0,192 repeat_region 108663985|GeneID:108663985 repeat_region -chr19 19663277 19663379 enhancer 0 + 19663277 19663379 0,128,128 enhancer 106783503|GeneID:106783503 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr19 30003706 30004596 enhancer 0 + 30003706 30004596 0,128,128 enhancer VISTA enhancer hs381 110120869|GeneID:110120869,8725|GeneID:8725 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[5/6] VISTA enhancer hs381 | enhancer in: eye[5/6] -chr19 30075042 30076109 enhancer 0 + 30075042 30076109 0,128,128 enhancer VISTA enhancer hs382 110120870|GeneID:110120870 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/4] | dorsal root ganglion[3/4] VISTA enhancer hs382 | enhancer in: neural tube[3/4] | dorsal root ganglion[3/4] -chr19 30083479 30084453 enhancer 0 + 30083479 30084453 0,128,128 enhancer VISTA enhancer hs721 110120927|GeneID:110120927,107985271|GeneID:107985271 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[5/10] VISTA enhancer hs721 | enhancer in: eye[5/10] -chr19 30256149 30257741 enhancer 0 + 30256149 30257741 0,128,128 enhancer VISTA enhancer hs858 110120942|GeneID:110120942,9745|GeneID:9745 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/11] | branchial arch[10/11] VISTA enhancer hs858 | enhancer in: limb[10/11] | branchial arch[10/11] -chr19 30276150 30277366 enhancer 0 + 30276150 30277366 0,128,128 enhancer VISTA enhancer hs383 110120871|GeneID:110120871,9745|GeneID:9745 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/7] VISTA enhancer hs383 | enhancer in: heart[3/7] -chr19 30349391 30352629 enhancer 0 + 30349391 30352629 0,128,128 enhancer VISTA enhancer hs430 110120875|GeneID:110120875,9745|GeneID:9745 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/6] VISTA enhancer hs430 | enhancer in: midbrain (mesencephalon)[3/6] -chr19 30512033 30513355 enhancer 0 + 30512033 30513355 0,128,128 enhancer VISTA enhancer hs384 110120872|GeneID:110120872,9745|GeneID:9745 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: trigeminal V (ganglion, cranial)[3/5] VISTA enhancer hs384 | enhancer in: trigeminal V (ganglion, cranial)[3/5] -chr19 31096151 31097164 enhancer 0 + 31096151 31097164 0,128,128 enhancer VISTA enhancer hs385 110120873|GeneID:110120873 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/9] | dorsal root ganglion[4/9] VISTA enhancer hs385 | enhancer in: neural tube[4/9] | dorsal root ganglion[4/9] -chr19 31961794 31962988 enhancer 0 + 31961794 31962988 0,128,128 enhancer VISTA enhancer hs536 110120890|GeneID:110120890 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[6/7] VISTA enhancer hs536 | enhancer in: other[6/7] -chr19 41431080 41432986 enhancer 0 + 41431080 41432986 0,128,128 enhancer VISTA enhancer hs1948 110121465|GeneID:110121465 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/10] VISTA enhancer hs1948 | enhancer in: heart[7/10] -chr19 44913620 44914747 promoter 0 + 44913620 44914747 0,128,128 promoter -1271 to -145 relative to translation start codon 107882133|GeneID:107882133 11054415|PMID:11054415 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11054415] -1271 to -145 relative to translation start codon -chr19 44913971 44914427 retrotransposon:HARLEQUINLTR 0 + 44913971 44914427 0,0,192 mobile_genetic_element 107882133|GeneID:107882133 mobile_genetic_element -chr19 45323598 45323841 enhancer 0 + 45323598 45323841 0,128,128 enhancer heart enhancer 22 108004523|GeneID:108004523 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 22 | enhancer in heart -chr19 45766792 45767007 rep_origin: amplicon J (PMID:20711191) 0 + 45766792 45767007 0,0,0 origin_of_replication amplicon J (PMID:20711191); peak of nascent strand synthesis detected by quantitative PCR of lambda exonuclease-digested DNA 107075317|GeneID:107075317 20711191|PMID:20711191 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:20711191] amplicon J (PMID:20711191); peak of nascent strand synthesis detected by quantitative PCR of lambda exonuclease-digested DNA -chr19 45769012 45769090 rep_origin: IS-SIX5 0 + 45769012 45769090 0,0,0 origin_of_replication IS-SIX5; amplicon G (PMID:22354993); peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107075317|GeneID:107075317,109729182|GeneID:109729182 22354993|PMID:22354993 EXISTENCE:fractionation evidence [ECO:0000100][PMID:22354993] IS-SIX5; amplicon G (PMID:22354993); peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chr19 45770042 45770103 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 45770042 45770103 192,0,0 protein_binding_site DM site 2 107075317|GeneID:107075317,109729182|GeneID:109729182 11479593|PMID:11479593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11479593] may negatively regulate DNA replication DM site 2 | may negatively regulate DNA replication | CCCTC-binding factor (zinc finger protein) -chr19 45770204 45770264 repeat_instability_region 0 + 45770204 45770264 192,0,192 sequence_feature repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) can be associated with myotonic dystrophy type 1 109461477|GeneID:109461477,109729182|GeneID:109729182 1310900|PMID:1310900 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:1310900] repeat instability region; expansion of the (CTG)n trinucleotide repeat (CAG relative to the plus strand of the reference genome) can be associated with myotonic dystrophy type 1 -chr19 45770204 45770266 tandem 0 + 45770204 45770266 0,0,192 repeat_region 109461477|GeneID:109461477,109729182|GeneID:109729182 repeat_region -chr19 45770204 45770267 tandem 0 + 45770204 45770267 0,0,192 repeat_region trinucleotide repeat region 107075317|GeneID:107075317,109729182|GeneID:109729182 trinucleotide repeat region -chr19 45770299 45770360 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 45770299 45770360 192,0,0 protein_binding_site DM site 1 107075317|GeneID:107075317,109729182|GeneID:109729182 11479593|PMID:11479593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11479593] may negatively regulate DNA replication DM site 1 | may negatively regulate DNA replication | CCCTC-binding factor (zinc finger protein) -chr19 45772644 45772995 rep_origin: IS-DMPK 0 + 45772644 45772995 0,0,0 origin_of_replication IS-DMPK; amplicon D (PMID:20711191) and amplicon C (PMID:22354993); peak of nascent strand synthesis detected by quantitative PCR of lambda exonuclease-digested DNA 107075317|GeneID:107075317 20711191|PMID:20711191,22354993|PMID:22354993 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:20711191] IS-DMPK; amplicon D (PMID:20711191) and amplicon C (PMID:22354993); peak of nascent strand synthesis detected by quantitative PCR of lambda exonuclease-digested DNA -chr19 48755126 48758666 promoter 0 + 48755126 48758666 0,128,128 promoter -3 kb FUT1 promoter 109279247|GeneID:109279247 25239830|PMID:25239830 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25239830] -3 kb FUT1 promoter -chr19 48755235 48756204 promoter 0 + 48755235 48756204 0,128,128 promoter -850 FGF21 promoter 109279247|GeneID:109279247 23430257|PMID:23430257 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23430257] retinoic acid responsive promoter -850 FGF21 promoter | retinoic acid responsive promoter -chr19 48755361 48755968 promoter 0 + 48755361 48755968 0,128,128 promoter -521 FUT1 promoter 109279247|GeneID:109279247 9760178|PMID:9760178 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9760178] -521 FUT1 promoter -chr19 48755442 48755455 transcriptional_cis_regulatory_region 0 + 48755442 48755455 0,128,128 region RARE 109279247|GeneID:109279247 23430257|PMID:23430257 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:23430257] mediates induction by retinoic acid RARE | mediates induction by retinoic acid -chr19 48755452 48755492 protein_bind: activating transcription factor 4; CCAAT/enhancer binding protein beta 0 + 48755452 48755492 192,0,0 protein_binding_site AARE1 109279247|GeneID:109279247 22233381|PMID:22233381 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22233381] positive regulation of FGF21 promoter AARE1 | positive regulation of FGF21 promoter | activating transcription factor 4; CCAAT/enhancer binding protein beta -chr19 48755481 48755491 transcriptional_cis_regulatory_region 0 + 48755481 48755491 0,128,128 region -90 to -81 109279247|GeneID:109279247 23533340|PMID:23533340 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23533340] important for activity of FUT1 promoter -90 to -81 | important for activity of FUT1 promoter -chr19 48755910 48755949 protein_bind: activating transcription factor 4; CCAAT/enhancer binding protein beta 0 + 48755910 48755949 192,0,0 protein_binding_site AARE2 109279247|GeneID:109279247,26291|GeneID:26291 22233381|PMID:22233381 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22233381] positive regulation of FGF21 promoter AARE2 | positive regulation of FGF21 promoter | activating transcription factor 4; CCAAT/enhancer binding protein beta -chr19 48756016 48756036 protein_bind: Sp1 transcription factor 0 + 48756016 48756036 192,0,0 protein_binding_site SP1 site 109279247|GeneID:109279247,26291|GeneID:26291 23018034|PMID:23018034 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23018034] SP1 site | Sp1 transcription factor -chr19 48757290 48757313 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 48757290 48757313 192,0,0 protein_binding_site AP1 site 109279247|GeneID:109279247,26291|GeneID:26291 25239830|PMID:25239830 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25239830] AP1 site | Jun proto-oncogene, AP-1 transcription factor subunit -chr19 50780555 50780726 rep_origin: 20mer1 M amplicon 0 + 50780555 50780726 0,0,0 origin_of_replication 20mer1 M amplicon; peak of nascent strand synthesis detected by PCR of lambda exonuclease-treated nascent DNA 107198088|GeneID:107198088 16707432|PMID:16707432 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16707432] 20mer1 M amplicon; peak of nascent strand synthesis detected by PCR of lambda exonuclease-treated nascent DNA -chr19 50780623 50780643 rep_origin: 20mer1 0 + 50780623 50780643 0,0,0 origin_of_replication 20mer1; can confer replication of a plasmid 107198088|GeneID:107198088 16707432|PMID:16707432 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:16707432] 20mer1; can confer replication of a plasmid -chr19 50849162 50854926 promoter 0 + 50849162 50854926 0,128,128 promoter 6 kb HindIII fragment 106128905|GeneID:106128905 9259317|PMID:9259317 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9259317] directs prostate specific expression 6 kb HindIII fragment | directs prostate specific expression -chr19 50849665 50851250 enhancer 0 + 50849665 50851250 0,128,128 enhancer DEE (distal enhancer element) 106128905|GeneID:106128905 8636136|PMID:8636136,11170135|PMID:11170135,12589022|PMID:12589022 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8636136, PMID:11170135, PMID:12589022] androgen-responsive enhancer DEE (distal enhancer element) | androgen-responsive enhancer -chr19 50850031 50851442 DNase_I_hypersensitive_site 0 + 50850031 50851442 0,128,128 region DHS I, II and III; stimulated by androgen in LNCaP cells; the nucleotide coordinates are approximate for this feature 106128905|GeneID:106128905 9013762|PMID:9013762 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9013762] DHS I, II and III; stimulated by androgen in LNCaP cells; the nucleotide coordinates are approximate for this feature -chr19 50850229 50851053 enhancer 0 + 50850229 50851053 0,128,128 enhancer PSAR822 fragment 106128905|GeneID:106128905,105372441|GeneID:105372441 9012480|PMID:9012480 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9012480] androgen-responsive enhancer PSAR822 fragment | androgen-responsive enhancer -chr19 50850229 50851053 promoter 0 + 50850229 50851053 0,128,128 promoter PSAR822 fragment 106128905|GeneID:106128905,105372441|GeneID:105372441 9012480|PMID:9012480 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9012480] PSAR822 fragment -chr19 50850469 50851069 retrotransposon:LTR40a 0 + 50850469 50851069 0,0,192 mobile_genetic_element 106128905|GeneID:106128905,105372441|GeneID:105372441 mobile_genetic_element -chr19 50850469 50851070 enhancer 0 + 50850469 50851070 0,128,128 enhancer LTR40a 106128905|GeneID:106128905,105372441|GeneID:105372441 22597536|PMID:22597536 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22597536] androgen-responsive enhancer LTR40a | androgen-responsive enhancer -chr19 50850663 50851104 enhancer 0 + 50850663 50851104 0,128,128 enhancer AREc 106128905|GeneID:106128905,105372441|GeneID:105372441 9013762|PMID:9013762,11006269|PMID:11006269 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9013762, PMID:11006269] androgen-responsive enhancer AREc | androgen-responsive enhancer -chr19 50850674 50850705 protein_bind: ets variant 1 0 + 50850674 50850705 192,0,0 protein_binding_site ETS1 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 19789348|PMID:19789348 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19789348] ETS1 probe | ets variant 1 -chr19 50850678 50850701 protein_bind: androgen receptor 0 + 50850678 50850701 192,0,0 protein_binding_site ARE VI DNase I footprint 106128905|GeneID:106128905,105372441|GeneID:105372441 10464314|PMID:10464314 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10464314] ARE VI DNase I footprint | androgen receptor -chr19 50850750 50850775 protein_bind: androgen receptor 0 + 50850750 50850775 192,0,0 protein_binding_site ARE V DNase I footprint 106128905|GeneID:106128905,105372441|GeneID:105372441 10464314|PMID:10464314 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10464314] ARE V DNase I footprint | androgen receptor -chr19 50850788 50850818 protein_bind: GATA binding proteins 0 + 50850788 50850818 192,0,0 protein_binding_site PSAe4190 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 11000519|PMID:11000519 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11000519] PSAe4190 probe | GATA binding proteins -chr19 50850791 50850887 tandem 0 + 50850791 50850887 0,0,192 repeat_region LTR40a internal Dup 1 region 106128905|GeneID:106128905,105372441|GeneID:105372441 22597536|PMID:22597536 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:22597536] LTR40a internal Dup 1 region -chr19 50850796 50850820 protein_bind: androgen receptor 0 + 50850796 50850820 192,0,0 protein_binding_site ARE IV DNase I footprint 106128905|GeneID:106128905,105372441|GeneID:105372441 10464314|PMID:10464314 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10464314] ARE IV DNase I footprint | androgen receptor -chr19 50850829 50850867 protein_bind: ets variant 1 0 + 50850829 50850867 192,0,0 protein_binding_site ETS5 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 19789348|PMID:19789348 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19789348] ETS5 probe | ets variant 1 -chr19 50850833 50850856 protein_bind: androgen receptor 0 + 50850833 50850856 192,0,0 protein_binding_site ARE III DNase I footprint (PMID:10464314) 106128905|GeneID:106128905,105372441|GeneID:105372441 9013762|PMID:9013762,9070893|PMID:9070893,10464314|PMID:10464314,11006269|PMID:11006269 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9013762, PMID:9070893, PMID:10464314, PMID:11006269] ARE III DNase I footprint (PMID:10464314) | androgen receptor -chr19 50850839 50850854 enhancer 0 + 50850839 50850854 0,128,128 enhancer ARE III 106128905|GeneID:106128905,105372441|GeneID:105372441 9013762|PMID:9013762,9070893|PMID:9070893 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9013762, PMID:9070893] androgen-responsive enhancer ARE III | androgen-responsive enhancer -chr19 50850865 50850880 protein_bind: forkhead box A 0 + 50850865 50850880 192,0,0 protein_binding_site PSA1/HNF-3; includes fp6 DNase I footprint 106128905|GeneID:106128905,105372441|GeneID:105372441 11170135|PMID:11170135 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:11170135] PSA1/HNF-3; includes fp6 DNase I footprint | forkhead box A -chr19 50850887 50850993 tandem 0 + 50850887 50850993 0,0,192 repeat_region LTR40a internal Dup 2 region 106128905|GeneID:106128905,105372441|GeneID:105372441 22597536|PMID:22597536 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:22597536] LTR40a internal Dup 2 region -chr19 50850888 50850918 protein_bind: GATA binding proteins 0 + 50850888 50850918 192,0,0 protein_binding_site PSAe4085 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 11000519|PMID:11000519 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11000519] PSAe4085 probe | GATA binding proteins -chr19 50850889 50850937 protein_bind: ets variant 1 0 + 50850889 50850937 192,0,0 protein_binding_site ETS6 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 19789348|PMID:19789348 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19789348] ETS6 probe | ets variant 1 -chr19 50850897 50850920 protein_bind: androgen receptor 0 + 50850897 50850920 192,0,0 protein_binding_site ARE IIIA DNase I footprint 106128905|GeneID:106128905,105372441|GeneID:105372441 10464314|PMID:10464314 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10464314] ARE IIIA DNase I footprint | androgen receptor -chr19 50850911 50850927 protein_bind: androgen receptor 0 + 50850911 50850927 192,0,0 protein_binding_site A3a binding site 106128905|GeneID:106128905,105372441|GeneID:105372441 11006269|PMID:11006269 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11006269] A3a binding site | androgen receptor -chr19 50850930 50850957 protein_bind: GATA binding proteins 0 + 50850930 50850957 192,0,0 protein_binding_site Psa3.1; includes PSAe4045 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 11000519|PMID:11000519,12782640|PMID:12782640 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11000519, PMID:12782640] Psa3.1; includes PSAe4045 probe | GATA binding proteins -chr19 50850941 50850968 protein_bind: ets variant 1 0 + 50850941 50850968 192,0,0 protein_binding_site ETS7 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 19789348|PMID:19789348 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19789348] ETS7 probe | ets variant 1 -chr19 50850959 50850983 protein_bind: forkhead box A 0 + 50850959 50850983 192,0,0 protein_binding_site PSA2/HNF-3 106128905|GeneID:106128905,105372441|GeneID:105372441 12750453|PMID:12750453 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12750453] PSA2/HNF-3 | forkhead box A -chr19 50850962 50850995 protein_bind: ets variant 1 0 + 50850962 50850995 192,0,0 protein_binding_site ETS8/9 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 19789348|PMID:19789348 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19789348] ETS8/9 probe | ets variant 1 -chr19 50851021 50851043 protein_bind: androgen receptor 0 + 50851021 50851043 192,0,0 protein_binding_site ARE IIIB DNase I footprint 106128905|GeneID:106128905,105372441|GeneID:105372441 10464314|PMID:10464314 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10464314] ARE IIIB DNase I footprint | androgen receptor -chr19 50851049 50851066 protein_bind: v-rel avian reticuloendotheliosis viral oncogene homolog A 0 + 50851049 50851066 192,0,0 protein_binding_site XBE 106128905|GeneID:106128905,105372441|GeneID:105372441 14715080|PMID:14715080 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14715080] XBE | v-rel avian reticuloendotheliosis viral oncogene homolog A -chr19 50851049 50851066 silencer 0 + 50851049 50851066 0,128,128 silencer XBE 106128905|GeneID:106128905,105372441|GeneID:105372441 14715080|PMID:14715080 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14715080] negatively regulates transcription XBE | negatively regulates transcription -chr19 50851072 50851098 protein_bind: ets variant 1 0 + 50851072 50851098 192,0,0 protein_binding_site ETS10 probe 106128905|GeneID:106128905,105372441|GeneID:105372441 19789348|PMID:19789348 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19789348] ETS10 probe | ets variant 1 -chr19 50851141 50851153 protein_bind: SAM pointed domain containing ETS transcription factor 0 + 50851141 50851153 192,0,0 protein_binding_site PSA E 106128905|GeneID:106128905 10625666|PMID:10625666 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10625666] PSA E | SAM pointed domain containing ETS transcription factor -chr19 50852746 50852758 protein_bind: SAM pointed domain containing ETS transcription factor 0 + 50852746 50852758 192,0,0 protein_binding_site PSA G 106128905|GeneID:106128905 10625666|PMID:10625666 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10625666] PSA G | SAM pointed domain containing ETS transcription factor -chr19 50852791 50852803 protein_bind: SAM pointed domain containing ETS transcription factor 0 + 50852791 50852803 192,0,0 protein_binding_site PSA H 106128905|GeneID:106128905 10625666|PMID:10625666 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10625666] PSA H | SAM pointed domain containing ETS transcription factor -chr19 50854292 50854952 promoter 0 + 50854292 50854952 0,128,128 promoter PCPSA 660 bp fragment 106128905|GeneID:106128905 1724287|PMID:1724287,8573614|PMID:8573614 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1724287, PMID:8573614] androgen-responsive promoter PCPSA 660 bp fragment | androgen-responsive promoter -chr19 50854299 50854700 DNase_I_hypersensitive_site 0 + 50854299 50854700 0,128,128 region DHS IV; stimulated by androgen in LNCaP cells; the nucleotide coordinates are approximate for this feature 106128905|GeneID:106128905 9013762|PMID:9013762 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:9013762] DHS IV; stimulated by androgen in LNCaP cells; the nucleotide coordinates are approximate for this feature -chr19 50854374 50854926 promoter 0 + 50854374 50854926 0,128,128 promoter 550 bp fragment 106128905|GeneID:106128905 1724287|PMID:1724287,8626436|PMID:8626436 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1724287, PMID:8626436] androgen-responsive promoter 550 bp fragment | androgen-responsive promoter -chr19 50854513 50854548 enhancer 0 + 50854513 50854548 0,128,128 enhancer ARR (androgen response region); includes ARE III, ARE2S and region A 106128905|GeneID:106128905 8626436|PMID:8626436,9013762|PMID:9013762,9224617|PMID:9224617 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8626436, PMID:9013762, PMID:9224617] androgen-responsive enhancer ARR (androgen response region); includes ARE III, ARE2S and region A | androgen-responsive enhancer -chr19 50854519 50854539 protein_bind: androgen receptor 0 + 50854519 50854539 192,0,0 protein_binding_site ARE II; also known as ARE2S and region A 106128905|GeneID:106128905 8626436|PMID:8626436,9013762|PMID:9013762,9224617|PMID:9224617 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8626436, PMID:9013762, PMID:9224617] ARE II; also known as ARE2S and region A | androgen receptor -chr19 50854590 50854926 promoter 0 + 50854590 50854926 0,128,128 promoter 300 bp fragment 106128905|GeneID:106128905 1724287|PMID:1724287 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1724287] minimal androgen-responsive promoter 300 bp fragment | minimal androgen-responsive promoter -chr19 50854612 50854659 protein_bind: Sp1/Sp3 transcription factors 0 + 50854612 50854659 192,0,0 protein_binding_site Sp-D; -302/-256 probe 106128905|GeneID:106128905 15708372|PMID:15708372 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15708372] Sp-D; -302/-256 probe | Sp1/Sp3 transcription factors -chr19 50854712 50854736 protein_bind: thyroid hormone receptor, beta 0 + 50854712 50854736 192,0,0 protein_binding_site TRE (T3-responsive element) 106128905|GeneID:106128905 11191079|PMID:11191079 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11191079] TRE (T3-responsive element) | thyroid hormone receptor, beta -chr19 50854736 50854766 protein_bind: androgen receptor 0 + 50854736 50854766 192,0,0 protein_binding_site ARE I 106128905|GeneID:106128905 7514587|PMID:7514587,8626436|PMID:8626436,9013762|PMID:9013762 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7514587, PMID:8626436, PMID:9013762] ARE I | androgen receptor -chr19 50854740 50854763 enhancer 0 + 50854740 50854763 0,128,128 enhancer ARE I 106128905|GeneID:106128905 1724287|PMID:1724287,9013762|PMID:9013762,9070893|PMID:9070893 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1724287, PMID:9013762, PMID:9070893] androgen-responsive enhancer ARE I | androgen-responsive enhancer -chr19 50854756 50854881 transcriptional_cis_regulatory_region 0 + 50854756 50854881 0,128,128 region pN/H region 106128905|GeneID:106128905 11006269|PMID:11006269 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11006269] positive regulator of promoter activity pN/H region | positive regulator of promoter activity -chr19 50854767 50854814 protein_bind: Sp1/Sp3 transcription factors 0 + 50854767 50854814 192,0,0 protein_binding_site Sp-C; -147/-101 probe 106128905|GeneID:106128905 15708372|PMID:15708372 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15708372] Sp-C; -147/-101 probe | Sp1/Sp3 transcription factors -chr19 50854805 50854847 protein_bind: Sp1/Sp3 transcription factors 0 + 50854805 50854847 192,0,0 protein_binding_site Sp-B; -109/-68 probe 106128905|GeneID:106128905 15708372|PMID:15708372 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15708372] Sp-B; -109/-68 probe | Sp1/Sp3 transcription factors -chr19 50854825 50854889 transcriptional_cis_regulatory_region 0 + 50854825 50854889 0,128,128 region -100 construct sequence including B region 106128905|GeneID:106128905 12858361|PMID:12858361 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12858361] required for mitogen-activated protein kinase-stimulated promoter activity -100 construct sequence including B region | required for mitogen-activated protein kinase-stimulated promoter activity -chr19 50854842 50854884 protein_bind: Sp1/Sp3 transcription factors 0 + 50854842 50854884 192,0,0 protein_binding_site Sp-A; -72/-31 probe; includes region R1 and region ii DNase I footprints and P2 site 106128905|GeneID:106128905 1724287|PMID:1724287,11006269|PMID:11006269 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:1724287, PMID:11006269] Sp-A; -72/-31 probe; includes region R1 and region ii DNase I footprints and P2 site | Sp1/Sp3 transcription factors -chr19 50868464 50870023 enhancer 0 + 50868464 50870023 0,128,128 enhancer DEE 2 (distal enhancer element 2) similar to CP379 fragment; similar to DEE 1 upstream of KLK3 (see region record GeneID:106128905) 106128906|GeneID:106128906 10197620|PMID:10197620 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10197620] androgen-responsive enhancer; may be required for copy number dependent transgene expression DEE 2 (distal enhancer element 2) similar to CP379 fragment; similar to DEE 1 upstream of KLK3 (see region record GeneID:106128905) | androgen-responsive enhancer; may be required for copy number dependent transgene expression -chr19 50868513 50868707 rep_origin: 20mer2 M amplicon 0 + 50868513 50868707 0,0,0 origin_of_replication 20mer2 M amplicon; peak of nascent strand synthesis detected by PCR of lambda exonuclease-treated nascent DNA 107198089|GeneID:107198089 16707432|PMID:16707432 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:16707432] 20mer2 M amplicon; peak of nascent strand synthesis detected by PCR of lambda exonuclease-treated nascent DNA -chr19 50868617 50868637 rep_origin: 20mer2 0 + 50868617 50868637 0,0,0 origin_of_replication 20mer2; can confer replication of a plasmid 107198089|GeneID:107198089 16707432|PMID:16707432 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:16707432] 20mer2; can confer replication of a plasmid -chr19 50868658 50869829 enhancer 0 + 50868658 50869829 0,128,128 enhancer CP390 fragment 106128906|GeneID:106128906 10197620|PMID:10197620 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10197620] androgen-responsive enhancer CP390 fragment | androgen-responsive enhancer -chr19 50869000 50869884 enhancer 0 + 50869000 50869884 0,128,128 enhancer hK2 0.8f fragment 106128906|GeneID:106128906 11064155|PMID:11064155 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11064155] androgen-responsive enhancer hK2 0.8f fragment | androgen-responsive enhancer -chr19 50869268 50869850 enhancer 0 + 50869268 50869850 0,128,128 enhancer LTR40a 106128906|GeneID:106128906 22597536|PMID:22597536 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22597536] androgen-responsive enhancer LTR40a | androgen-responsive enhancer -chr19 50869268 50869850 retrotransposon:LTR40a 0 + 50869268 50869850 0,0,192 mobile_genetic_element 106128906|GeneID:106128906 mobile_genetic_element -chr19 50869612 50869635 enhancer 0 + 50869612 50869635 0,128,128 enhancer ARE E 106128906|GeneID:106128906 11064155|PMID:11064155 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11064155] androgen-responsive enhancer ARE E | androgen-responsive enhancer -chr19 50869612 50869635 protein_bind: androgen receptor 0 + 50869612 50869635 192,0,0 protein_binding_site ARE E 106128906|GeneID:106128906 11064155|PMID:11064155 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11064155] promotes enhancer activity ARE E | promotes enhancer activity | androgen receptor -chr19 50873110 50873463 promoter 0 + 50873110 50873463 0,128,128 promoter androgen-responsive minimal promoter fragment 106128906|GeneID:106128906 7686046|PMID:7686046 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7686046] androgen-responsive minimal promoter fragment -chr19 50873262 50873277 enhancer 0 + 50873262 50873277 0,128,128 enhancer ARE P 106128906|GeneID:106128906 7686046|PMID:7686046 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7686046] androgen-responsive enhancer ARE P | androgen-responsive enhancer -chr1_GL383519v1_alt 18039 20491 non_allelic_homologous 0 + 18039 20491 160,82,45 recombination_feature sub-region e', recombines with sub-region e within the GBA recombination region 106627982|GeneID:106627982 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region e', recombines with sub-region e within the GBA recombination region -chr1_GL383519v1_alt 21679 21695 non_allelic_homologous 0 + 21679 21695 160,82,45 recombination_feature sub-region d', recombines with sub-region d within the GBA recombination region 106627982|GeneID:106627982 11042032|PMID:11042032 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11042032] sub-region d', recombines with sub-region d within the GBA recombination region -chr1_GL383519v1_alt 22507 22608 non_allelic_homologous 0 + 22507 22608 160,82,45 recombination_feature sub-region c', recombines with sub-region c within the GBA recombination region 106627982|GeneID:106627982 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region c', recombines with sub-region c within the GBA recombination region -chr1_GL383519v1_alt 22912 22938 non_allelic_homologous 0 + 22912 22938 160,82,45 recombination_feature sub-region b', recombines with sub-region b within the GBA recombination region 106627982|GeneID:106627982 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region b', recombines with sub-region b within the GBA recombination region -chr1_GL383519v1_alt 23177 23195 non_allelic_homologous 0 + 23177 23195 160,82,45 recombination_feature sub-region a', recombines with sub-region a within the GBA recombination region 106627982|GeneID:106627982 11112377|PMID:11112377 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11112377] sub-region a', recombines with sub-region a within the GBA recombination region -chr1_GL383519v1_alt 38661 41167 non_allelic_homologous 0 + 38661 41167 160,82,45 recombination_feature sub-region e, recombines with sub-region e' within the GBAP1 recombination region 106627981|GeneID:106627981 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region e, recombines with sub-region e' within the GBAP1 recombination region -chr1_GL383519v1_alt 42629 42964 non_allelic_homologous 0 + 42629 42964 160,82,45 recombination_feature sub-region d, recombines with sub-region d' within the GBAP1 recombination region 106627981|GeneID:106627981 11042032|PMID:11042032 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11042032] sub-region d, recombines with sub-region d' within the GBAP1 recombination region -chr1_GL383519v1_alt 43777 43878 non_allelic_homologous 0 + 43777 43878 160,82,45 recombination_feature sub-region c, recombines with sub-region c' within the GBAP1 recombination region 106627981|GeneID:106627981 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region c, recombines with sub-region c' within the GBAP1 recombination region -chr1_GL383519v1_alt 44827 44853 non_allelic_homologous 0 + 44827 44853 160,82,45 recombination_feature sub-region b, recombines with sub-region b' within the GBAP1 recombination region 106627981|GeneID:106627981 12587096|PMID:12587096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12587096] sub-region b, recombines with sub-region b' within the GBAP1 recombination region -chr1_GL383519v1_alt 45097 45115 non_allelic_homologous 0 + 45097 45115 160,82,45 recombination_feature sub-region a, recombines with sub-region a' within the GBAP1 recombination region 106627981|GeneID:106627981 11112377|PMID:11112377 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11112377] sub-region a, recombines with sub-region a' within the GBAP1 recombination region -chr1_GL383520v2_alt 323074 323645 enhancer 0 + 323074 323645 0,128,128 enhancer amplified fragment containing most of the chr1:198650930-198651643 (GRCh37) CAGE region 108281163|GeneID:108281163,5788|GeneID:5788 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr1:198650930-198651643 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr1_GL383520v2_alt 323205 323919 CAGE_cluster 0 + 323205 323919 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281163|GeneID:108281163,5788|GeneID:5788 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr1_KI270763v1_alt 725272 726699 enhancer 0 + 725272 726699 0,128,128 enhancer VISTA enhancer hs545 110120698|GeneID:110120698 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[6/7] | forebrain[6/7] VISTA enhancer hs545 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[6/7] | forebrain[6/7] -chr2 3264424 3267078 enhancer 0 + 3264424 3267078 0,128,128 enhancer VISTA enhancer hs1385 110121085|GeneID:110121085 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/5] | midbrain (mesencephalon)[4/5] VISTA enhancer hs1385 | enhancer in: hindbrain (rhombencephalon)[3/5] | midbrain (mesencephalon)[4/5] -chr2 5409484 5412892 enhancer 0 + 5409484 5412892 0,128,128 enhancer VISTA enhancer hs1496 110121127|GeneID:110121127 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[15/16] | hindbrain (rhombencephalon)[15/16] | midbrain (mesencephalon)[13/16] | forebrain[14/16] VISTA enhancer hs1496 | enhancer in: neural tube[15/16] | hindbrain (rhombencephalon)[15/16] | midbrain (mesencephalon)[13/16] | forebrain[14/16] -chr2 7634261 7634939 enhancer 0 + 7634261 7634939 0,128,128 enhancer VISTA enhancer hs388 110120665|GeneID:110120665 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/13] | limb[10/13] VISTA enhancer hs388 | enhancer in: forebrain[8/13] | limb[10/13] -chr2 8641263 8643461 enhancer 0 + 8641263 8643461 0,128,128 enhancer VISTA enhancer hs1527 110121131|GeneID:110121131 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/10] | hindbrain (rhombencephalon)[7/10] | midbrain (mesencephalon)[7/10] | forebrain[7/10] VISTA enhancer hs1527 | enhancer in: neural tube[7/10] | hindbrain (rhombencephalon)[7/10] | midbrain (mesencephalon)[7/10] | forebrain[7/10] -chr2 19574353 19576457 enhancer 0 + 19574353 19576457 0,128,128 enhancer VISTA enhancer hs1273 110121045|GeneID:110121045 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[6/8] | limb[7/8] | branchial arch[7/8] | nose[7/8] VISTA enhancer hs1273 | enhancer in: somite[6/8] | limb[7/8] | branchial arch[7/8] | nose[7/8] -chr2 20578533 20580046 enhancer 0 + 20578533 20580046 0,128,128 enhancer VISTA enhancer hs2384 110121308|GeneID:110121308 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[10/10] | other[5/10] | ear[7/10] VISTA enhancer hs2384 | enhancer in: heart[10/10] | other[5/10] | ear[7/10] -chr2 21000400 21001352 insulator 0 + 21000400 21001352 0,128,128 region 3' MAR (+43104 to +44079); Xba I/BamH I fragment 106632268|GeneID:106632268 7799927|PMID:7799927,9528807|PMID:9528807,15542833|PMID:15542833 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7799927] may contribute to locus-independent transgene expression in cell culture (PMID:7799927); two copies in any orientation on a fly transgene can establish chromosome insulation (PMID:9528807, PMID:15542833) 3' MAR (+43104 to +44079); Xba I/BamH I fragment | may contribute to locus-independent transgene expression in cell culture (PMID:7799927); two copies in any orientation on a fly transgene can establish chromosome insulation (PMID:9528807, PMID:15542833) -chr2 21000632 21001271 matrix_attachment_region 0 + 21000632 21001271 0,128,128 region 3' MAR; Dra I/Rsa I fragment 106632268|GeneID:106632268 2592370|PMID:2592370 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2592370] 3' MAR; Dra I/Rsa I fragment -chr2 21000680 21001281 DNase_I_hypersensitive_site 0 + 21000680 21001281 0,128,128 region DH1; the nucleotide coordinates are approximate for this feature 106632268|GeneID:106632268 2168168|PMID:2168168 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2168168] DH1; the nucleotide coordinates are approximate for this feature -chr2 21000695 21000709 flanking 0 + 21000695 21000709 0,0,192 repeat_region 14 nt direct repeat flanking AT-rich hypervariable region (HVR) 106632268|GeneID:106632268 2885324|PMID:2885324,3786150|PMID:3786150 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3786150, PMID:2885324] 14 nt direct repeat flanking AT-rich hypervariable region (HVR) -chr2 21000715 21000729 flanking 0 + 21000715 21000729 0,0,192 repeat_region 14 nt direct repeat flanking AT-rich hypervariable region (HVR) 106632268|GeneID:106632268 2885324|PMID:2885324,3786150|PMID:3786150 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3786150, PMID:2885324] 14 nt direct repeat flanking AT-rich hypervariable region (HVR) -chr2 21000738 21001243 tandem 0 + 21000738 21001243 0,0,192 repeat_region AT-rich hypervariable region (HVR); approximately 34 copies of 15 nt consensus repeat length 106632268|GeneID:106632268 2885324|PMID:2885324,3786150|PMID:3786150 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3786150, PMID:2885324] AT-rich hypervariable region (HVR); approximately 34 copies of 15 nt consensus repeat length -chr2 21001256 21001270 flanking 0 + 21001256 21001270 0,0,192 repeat_region 14 nt direct repeat flanking AT-rich hypervariable region (HVR) 106632268|GeneID:106632268 2885324|PMID:2885324,3786150|PMID:3786150 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3786150, PMID:2885324] 14 nt direct repeat flanking AT-rich hypervariable region (HVR) -chr2 21001440 21001841 DNase_I_hypersensitive_site 0 + 21001440 21001841 0,128,128 region DH2; the nucleotide coordinates are approximate for this feature 106632268|GeneID:106632268 2168168|PMID:2168168 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2168168] DH2; the nucleotide coordinates are approximate for this feature -chr2 21041087 21043012 enhancer 0 + 21041087 21043012 0,128,128 enhancer PvuII/EcoRI fragment (+1064 to 2977) 106560211|GeneID:106560211 1527004|PMID:1527004 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1527004] PvuII/EcoRI fragment (+1064 to 2977) -chr2 21041139 21042040 micrococcal_nuclease_hypersensitive_site 0 + 21041139 21042040 0,128,128 region MH VI, VII, VIII, IX, X; region with decreased nucleosome phasing; the nucleotide coordinates are approximate for this feature 106560211|GeneID:106560211 1527004|PMID:1527004 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1527004] MH VI, VII, VIII, IX, X; region with decreased nucleosome phasing; the nucleotide coordinates are approximate for this feature -chr2 21041689 21041709 protein_bind: HNF1 homeobox A 0 + 21041689 21041709 192,0,0 protein_binding_site BSIF-3 106560211|GeneID:106560211 8557677|PMID:8557677 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8557677] BSIF-3 | HNF1 homeobox A -chr2 21041689 21041709 silencer 0 + 21041689 21041709 0,128,128 silencer BSIF-3 106560211|GeneID:106560211 8557677|PMID:8557677 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8557677] BSIF-3 -chr2 21041944 21043338 DNase_I_hypersensitive_site 0 + 21041944 21043338 0,128,128 region DH I, II, II', III', III, IV, IV' and V; coincides with micrococcal nuclease hypersensitive sites MH I, II, III, IV and V; the nucleotide coordinates are approximate for this feature 106560211|GeneID:106560211 1527004|PMID:1527004 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:1527004] DH I, II, II', III', III, IV, IV' and V; coincides with micrococcal nuclease hypersensitive sites MH I, II, III, IV and V; the nucleotide coordinates are approximate for this feature -chr2 21042045 21042528 enhancer 0 + 21042045 21042528 0,128,128 enhancer StyI/HaeIII fragment (+1542 to +2021) 106560211|GeneID:106560211 1527004|PMID:1527004 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1527004] StyI/HaeIII fragment (+1542 to +2021) -chr2 21042090 21042114 protein_bind: caudal type homeobox 2 and 4 0 + 21042090 21042114 192,0,0 protein_binding_site BSIF-1 106560211|GeneID:106560211 8557677|PMID:8557677 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8557677] BSIF-1 | caudal type homeobox 2 and 4 -chr2 21042090 21042114 silencer 0 + 21042090 21042114 0,128,128 silencer BSIF-1 106560211|GeneID:106560211 8557677|PMID:8557677 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8557677] BSIF-1 -chr2 21042109 21042267 enhancer 0 + 21042109 21042267 0,128,128 enhancer core enhancer (+1803 to +1958), including DNase I footprint regions A, B, and C 106560211|GeneID:106560211 1527004|PMID:1527004 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1527004] core enhancer (+1803 to +1958), including DNase I footprint regions A, B, and C -chr2 21043006 21043455 enhancer 0 + 21043006 21043455 0,128,128 enhancer SmaI/PvuII 443 bp fragment (+621 to +1064) 106560211|GeneID:106560211 2019605|PMID:2019605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2019605] enhancer in liver SmaI/PvuII 443 bp fragment (+621 to +1064) | enhancer in liver -chr2 21043132 21043266 enhancer 0 + 21043132 21043266 0,128,128 enhancer core enhancer (+806 to +940); inferred from constructs Xba 7/1 and Xba 3/8 106560211|GeneID:106560211 2019605|PMID:2019605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2019605] core enhancer (+806 to +940); inferred from constructs Xba 7/1 and Xba 3/8 -chr2 21043149 21043203 protein_bind: CCAAT/enhancer binding protein (C/EBP) 0 + 21043149 21043203 192,0,0 protein_binding_site TaqI probe fragment (+871 to +921) 106560211|GeneID:106560211 1545795|PMID:1545795 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1545795] TaqI probe fragment (+871 to +921) | CCAAT/enhancer binding protein (C/EBP) -chr2 21043199 21043234 protein_bind: hepatocyte nuclear factor 1; forkhead box A1 0 + 21043199 21043234 192,0,0 protein_binding_site PAL 35 oligo probe (+839 to +871) 106560211|GeneID:106560211 1545795|PMID:1545795,2019605|PMID:2019605 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2019605, PMID:1545795] PAL 35 oligo probe (+839 to +871) | hepatocyte nuclear factor 1; forkhead box A1 -chr2 21043449 21043731 enhancer 0 + 21043449 21043731 0,128,128 enhancer PvuII/SmaI 275 bp fragment (+346 to +621) 106560211|GeneID:106560211 2019605|PMID:2019605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2019605] PvuII/SmaI 275 bp fragment (+346 to +621) -chr2 21043948 21044974 promoter 0 + 21043948 21044974 0,128,128 promoter PvuII 1 kb fragment; contains multiple negative and positive regulatory regions 106560211|GeneID:106560211 2501159|PMID:2501159,3165376|PMID:3165376,3336367|PMID:3336367 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:3336367, PMID:3165376, PMID:2501159] PvuII 1 kb fragment; contains multiple negative and positive regulatory regions -chr2 21043951 21044078 transcriptional_cis_regulatory_region 0 + 21043951 21044078 0,128,128 region +4 to +122 106560211|GeneID:106560211 2501159|PMID:2501159 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2501159] +4 to +122 -chr2 21044025 21044036 transcriptional_cis_regulatory_region 0 + 21044025 21044036 0,128,128 region +43 to +53 106560211|GeneID:106560211 7575618|PMID:7575618 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7575618] positive regulator of transcription +43 to +53 | positive regulator of transcription -chr2 21044033 21044064 protein_bind: topoisomerase (DNA) I 0 + 21044033 21044064 192,0,0 protein_binding_site BRF-3 site; probe sequence 106560211|GeneID:106560211 10469141|PMID:10469141 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10469141] BRF-3 site; probe sequence | topoisomerase (DNA) I -chr2 21044038 21044059 transcriptional_cis_regulatory_region 0 + 21044038 21044059 0,128,128 region +20 to +40 106560211|GeneID:106560211 7575618|PMID:7575618 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7575618] negative regulator of transcription +20 to +40 | negative regulator of transcription -chr2 21044042 21045072 DNase_I_hypersensitive_site 0 + 21044042 21045072 0,128,128 region DH 1, 2, 3' and 3; coincides with micrococcal nuclease hypersensitive sites MH 2, 3, 4 and 5; the nucleotide coordinates are approximate for this feature 106560211|GeneID:106560211 3336367|PMID:3336367 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:3336367] DH 1, 2, 3' and 3; coincides with micrococcal nuclease hypersensitive sites MH 2, 3, 4 and 5; the nucleotide coordinates are approximate for this feature -chr2 21044101 21044146 response_element 0 + 21044101 21044146 0,128,128 regulatory_region QRE (quercetin response element) 106560211|GeneID:106560211 25875015|PMID:25875015 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25875015] responds to quercetin and antagonizes activation of transcription by C/EBP QRE (quercetin response element) | responds to quercetin and antagonizes activation of transcription by C/EBP -chr2 21044104 21044125 protein_bind: CCAAT/enhancer binding protein (C/EBP) 0 + 21044104 21044125 192,0,0 protein_binding_site element V region (-52 to -33) 106560211|GeneID:106560211 1733959|PMID:1733959 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1733959] element V region (-52 to -33) | CCAAT/enhancer binding protein (C/EBP) -chr2 21044124 21044144 protein_bind: CCAAT/enhancer binding protein (C/EBP) 0 + 21044124 21044144 192,0,0 protein_binding_site element IV region (-72 to -52) 106560211|GeneID:106560211 1733959|PMID:1733959,2161847|PMID:2161847 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1733959, PMID:2161847] positive regulation of transcription element IV region (-72 to -52) | positive regulation of transcription | CCAAT/enhancer binding protein (C/EBP) -chr2 21044131 21044157 protein_bind: hepatocyte nuclear factor 4 0 + 21044131 21044157 192,0,0 protein_binding_site oligo BL (-85 to -59); AF-1 site; methylation sensitive 106560211|GeneID:106560211 1639815|PMID:1639815,8344962|PMID:8344962 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1639815, PMID:8344962] positive regulation of transcription oligo BL (-85 to -59); AF-1 site; methylation sensitive | positive regulation of transcription | hepatocyte nuclear factor 4 -chr2 21044133 21044158 protein_bind: nuclear receptor subfamily 2, group F, members 1, 2, 6 0 + 21044133 21044158 192,0,0 protein_binding_site BA1 element III region (-86 to -62); methylation sensitive 106560211|GeneID:106560211 1639815|PMID:1639815 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1639815] negative regulation of transcription BA1 element III region (-86 to -62); methylation sensitive | negative regulation of transcription | nuclear receptor subfamily 2, group F, members 1, 2, 6 -chr2 21044159 21044183 protein_bind: forkhead box A1 0 + 21044159 21044183 192,0,0 protein_binding_site -111wt probe (-111 to -88); includes TGT3 and TGT4 sites and overlaps element II region 106560211|GeneID:106560211 8441395|PMID:8441395 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8441395] positive regulation of transcription -111wt probe (-111 to -88); includes TGT3 and TGT4 sites and overlaps element II region | positive regulation of transcription | forkhead box A1 -chr2 21044169 21044190 protein_bind: CCAAT/enhancer binding protein (C/EBP) 0 + 21044169 21044190 192,0,0 protein_binding_site element I region (-118 to -98) 106560211|GeneID:106560211 1733959|PMID:1733959 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1733959] element I region (-118 to -98) | CCAAT/enhancer binding protein (C/EBP) -chr2 21044184 21044213 protein_bind: CCAAT/enhancer binding protein (C/EBP), beta and delta 0 + 21044184 21044213 192,0,0 protein_binding_site -139/111 probe (-139 to -111) 106560211|GeneID:106560211 8557677|PMID:8557677 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8557677] positive regulation of transcription -139/111 probe (-139 to -111) | positive regulation of transcription | CCAAT/enhancer binding protein (C/EBP), beta and delta -chr2 21044498 21044523 silencer 0 + 21044498 21044523 0,128,128 silencer aBUSS (apoB upstream suppressor site) (-449 to -425) 106560211|GeneID:106560211 2039496|PMID:2039496 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2039496] aBUSS (apoB upstream suppressor site) (-449 to -425) -chr2 21044968 21046595 matrix_attachment_region 0 + 21044968 21046595 0,128,128 region 5' proximal MAR in HepG2 cells; EcoRV/PvuII fragment 106560211|GeneID:106560211 2592370|PMID:2592370 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2592370] associates with the nuclear matrix 5' proximal MAR in HepG2 cells; EcoRV/PvuII fragment | associates with the nuclear matrix -chr2 21045868 21046205 silencer 0 + 21045868 21046205 0,128,128 silencer reducer, StyI/HindIII fragment (-2130 to -1802) 106560211|GeneID:106560211 1660893|PMID:1660893,1939218|PMID:1939218 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1660893, PMID:1939218] reducer, StyI/HindIII fragment (-2130 to -1802) -chr2 21045868 21047291 silencer 0 + 21045868 21047291 0,128,128 silencer reducer; SphI/HindIII fragment (-3211 to -1802) 106560211|GeneID:106560211 1660893|PMID:1660893,1939218|PMID:1939218 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1660893, PMID:1939218] reducer; SphI/HindIII fragment (-3211 to -1802) -chr2 21046543 21046815 silencer 0 + 21046543 21046815 0,128,128 silencer reducer, XbaI/MboI fragment (-2738 to -2470) 106560211|GeneID:106560211 1660893|PMID:1660893,1939218|PMID:1939218 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1660893, PMID:1939218] reducer, XbaI/MboI fragment (-2738 to -2470) -chr2 21046809 21047144 silencer 0 + 21046809 21047144 0,128,128 silencer reducer, MboI/XbaI fragment (-3067 to -2734) 106560211|GeneID:106560211 1660893|PMID:1660893,1939218|PMID:1939218,8441395|PMID:8441395 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1660893, PMID:1939218, PMID:8441395] reducer, MboI/XbaI fragment (-3067 to -2734) -chr2 21046854 21046877 protein_bind: nuclear receptor subfamily 2, group F, member 2 0 + 21046854 21046877 192,0,0 protein_binding_site Red (-2801 to -2778) 106560211|GeneID:106560211 8441395|PMID:8441395 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8441395] antagonizes transcriptional activation by forkhead box A Red (-2801 to -2778) | antagonizes transcriptional activation by forkhead box A | nuclear receptor subfamily 2, group F, member 2 -chr2 21046854 21046877 silencer 0 + 21046854 21046877 0,128,128 silencer Red (-2801 to -2778) 106560211|GeneID:106560211 8441395|PMID:8441395 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8441395] Red (-2801 to -2778) -chr2 21048314 21049341 insulator 0 + 21048314 21049341 0,128,128 region 5' MAR (-5262 to -4235) 106560211|GeneID:106560211 7799927|PMID:7799927,9528807|PMID:9528807 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7799927] may contribute to locus-independent transgene expression in cell culture (PMID:7799927) but did not function as an insulator in whole animal transgenic models (e.g. PMID:9528807) 5' MAR (-5262 to -4235) | may contribute to locus-independent transgene expression in cell culture (PMID:7799927) but did not function as an insulator in whole animal transgenic models (e.g. PMID:9528807) -chr2 21048437 21049341 matrix_attachment_region 0 + 21048437 21049341 0,128,128 region 5' distal MAR; XbaI/SphI fragment 106560211|GeneID:106560211 2592370|PMID:2592370 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2592370] associates with the nuclear matrix 5' distal MAR; XbaI/SphI fragment | associates with the nuclear matrix -chr2 21094584 21094755 silencer 0 + 21094584 21094755 0,128,128 silencer 165 bp SspI/HindIII fragment 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11389586] reduces reporter transgene expression in CaCo-2 cells 165 bp SspI/HindIII fragment | reduces reporter transgene expression in CaCo-2 cells -chr2 21094584 21097325 enhancer 0 + 21094584 21097325 0,128,128 enhancer 2.7 IE; HindIII fragment 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11389586] enhancer in intestine 2.7 IE; HindIII fragment | enhancer in intestine -chr2 21094749 21095110 enhancer 0 + 21094749 21095110 0,128,128 enhancer 356 IE; StyI/SspI fragment 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11389586] enhancer in CaCo-2 cells but not whole animal transgenic organisms 356 IE; StyI/SspI fragment | enhancer in CaCo-2 cells but not whole animal transgenic organisms -chr2 21095104 21096144 DNase_I_hypersensitive_site 0 + 21095104 21096144 0,128,128 region DH3 and DH4; Sty I/Sty I fragment; the nucleotide coordinates are approximate for this feature 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:11389586] DH3 and DH4; Sty I/Sty I fragment; the nucleotide coordinates are approximate for this feature -chr2 21095104 21096144 enhancer 0 + 21095104 21096144 0,128,128 enhancer 1031 IE; StyI/StyI fragment 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11389586] enhancer in intestine in whole animal transgenic organisms 1031 IE; StyI/StyI fragment | enhancer in intestine in whole animal transgenic organisms -chr2 21097099 21098100 DNase_I_hypersensitive_site 0 + 21097099 21098100 0,128,128 region DH1 and DH2; the nucleotide coordinates are approximate for this feature 106633812|GeneID:106633812 10859308|PMID:10859308,11389586|PMID:11389586 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:10859308, PMID:11389586] DH1 and DH2; the nucleotide coordinates are approximate for this feature -chr2 21097319 21097640 enhancer 0 + 21097319 21097640 0,128,128 enhancer 315 IE; EcoRI/HindIII fragment 106633812|GeneID:106633812 10859308|PMID:10859308 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10859308] enhancer in intestine 315 IE; EcoRI/HindIII fragment | enhancer in intestine -chr2 21097406 21097430 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha and beta 0 + 21097406 21097430 192,0,0 protein_binding_site Site 4; C/EBP alpha and C/EBP beta may compete for binding 106633812|GeneID:106633812 10859308|PMID:10859308,11244563|PMID:11244563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10859308, PMID:11244563] Site 4; C/EBP alpha and C/EBP beta may compete for binding | CCAAT/enhancer binding protein (C/EBP), alpha and beta -chr2 21097434 21097456 protein_bind: hepatocyte nuclear factor 4, alpha 0 + 21097434 21097456 192,0,0 protein_binding_site Site 3 106633812|GeneID:106633812 10859308|PMID:10859308,11244563|PMID:11244563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10859308, PMID:11244563] Site 3 | hepatocyte nuclear factor 4, alpha -chr2 21097520 21097546 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha and beta 0 + 21097520 21097546 192,0,0 protein_binding_site Site 2; C/EBP alpha and C/EBP beta may compete for binding 106633812|GeneID:106633812 10859308|PMID:10859308,11244563|PMID:11244563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10859308, PMID:11244563] Site 2; C/EBP alpha and C/EBP beta may compete for binding | CCAAT/enhancer binding protein (C/EBP), alpha and beta -chr2 21097563 21097583 protein_bind: forkhead box A2 0 + 21097563 21097583 192,0,0 protein_binding_site Site 1 106633812|GeneID:106633812 10859308|PMID:10859308,11244563|PMID:11244563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10859308, PMID:11244563] Site 1 | forkhead box A2 -chr2 21097634 21098125 enhancer 0 + 21097634 21098125 0,128,128 enhancer 485 IE; EcoRI fragment 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11389586] 485 IE; EcoRI fragment -chr2 21097634 21099233 enhancer 0 + 21097634 21099233 0,128,128 enhancer 1.8 IE; EcoRI fragment 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11389586] enhancer in intestine 1.8 IE; EcoRI fragment | enhancer in intestine -chr2 21097634 21099233 enhancer_blocking_element 0 + 21097634 21099233 0,128,128 insulator 1.8 kb EcoRI fragment 106633812|GeneID:106633812 11389587|PMID:11389587 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11389587] 1.8 kb EcoRI fragment -chr2 21097634 21099233 insulator 0 + 21097634 21099233 0,128,128 region 1.8 kb EcoRI fragment 106633812|GeneID:106633812 11389587|PMID:11389587 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11389587] insulator in fly transgenic reporter model 1.8 kb EcoRI fragment | insulator in fly transgenic reporter model -chr2 21097816 21097840 protein_bind: nuclear receptor subfamily 2, group F, member 2; hepatocyte nuclear factor 4, alpha 0 + 21097816 21097840 192,0,0 protein_binding_site 485 HNF-4/ARP-1 oligonucleotide 106633812|GeneID:106633812 11389586|PMID:11389586 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11389586] 485 HNF-4/ARP-1 oligonucleotide | nuclear receptor subfamily 2, group F, member 2; hepatocyte nuclear factor 4, alpha -chr2 21098059 21098091 enhancer_blocking_element 0 + 21098059 21098091 0,128,128 insulator CTCF site 106633812|GeneID:106633812 11389587|PMID:11389587 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11389587] CTCF site -chr2 21098059 21098091 protein_bind: CCCTC-binding factor (zinc finger protein) 0 + 21098059 21098091 192,0,0 protein_binding_site CTCF site 106633812|GeneID:106633812 11389587|PMID:11389587 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11389587] CTCF site | CCCTC-binding factor (zinc finger protein) -chr2 21100460 21101784 matrix_attachment_region 0 + 21100460 21101784 0,128,128 region HpaI/NdeI fragment for 5' MAR 106633812|GeneID:106633812 11389587|PMID:11389587 EXISTENCE:fractionation evidence [ECO:0000100][PMID:11389587] associates with the nuclear matrix HpaI/NdeI fragment for 5' MAR | associates with the nuclear matrix -chr2 25168453 25169266 promoter 0 + 25168453 25169266 0,128,128 promoter PvuII/BamHI fragment for promoter 108167315|GeneID:108167315 6305652|PMID:6305652 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:6305652] PvuII/BamHI fragment for promoter -chr2 25168604 25168611 TATA_box 0 + 25168604 25168611 0,128,128 TATA_box 108167315|GeneID:108167315 6305652|PMID:6305652 COORDINATES:motif similarity evidence [ECO:0000028][PMID:6305652] TATA_box -chr2 25168604 25168617 transcriptional_cis_regulatory_region 0 + 25168604 25168617 0,128,128 region TATA box 108167315|GeneID:108167315 6305652|PMID:6305652,6327275|PMID:6327275 EXISTENCE:transcriptional activation assay [ECO:0000170][PMID:6305652, PMID:6327275] required for transcription TATA box | required for transcription -chr2 25168632 25168657 protein_bind: nuclear receptor subfamily 4 group A member 1 0 + 25168632 25168657 192,0,0 protein_binding_site nGRE; also known as P-NBRE or Nur77 site 108167315|GeneID:108167315 9496246|PMID:9496246 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9496246] nGRE; also known as P-NBRE or Nur77 site | nuclear receptor subfamily 4 group A member 1 -chr2 25168632 25168661 protein_bind: nuclear receptor subfamily 3 group C member 1 0 + 25168632 25168661 192,0,0 protein_binding_site nGRE; also known as NurRE or GR site 108167315|GeneID:108167315 11174853|PMID:11174853 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11174853] negative regulation of cyclic AMP mediated induction nGRE; also known as NurRE or GR site | negative regulation of cyclic AMP mediated induction | nuclear receptor subfamily 3 group C member 1 -chr2 25168666 25168699 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 25168666 25168699 192,0,0 protein_binding_site HPE1 (-115 to -83); AP1 weak binding site 108167315|GeneID:108167315 8329120|PMID:8329120 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8329120] HPE1 (-115 to -83); AP1 weak binding site | Jun proto-oncogene, AP-1 transcription factor subunit -chr2 25168676 25168696 enhancer 0 + 25168676 25168696 0,128,128 enhancer -112 to -93 fragment 108167315|GeneID:108167315 8329120|PMID:8329120 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8329120] bidirectional enhancer of transcription -112 to -93 fragment | bidirectional enhancer of transcription -chr2 25168682 25168856 transcriptional_cis_regulatory_region 0 + 25168682 25168856 0,128,128 region -273 to -93 fragment 108167315|GeneID:108167315 7772256|PMID:7772256 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7772256] positive regulation of transcription -273 to -93 fragment | positive regulation of transcription -chr2 25168779 25168802 protein_bind: upstream transcription factor 1 0 + 25168779 25168802 192,0,0 protein_binding_site E-box 108167315|GeneID:108167315 15358786|PMID:15358786 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15358786] positive regulation of transcription in response to ultraviolet irradiation E-box | positive regulation of transcription in response to ultraviolet irradiation | upstream transcription factor 1 -chr2 25168856 25168882 transcriptional_cis_regulatory_region 0 + 25168856 25168882 0,128,128 region Tpit site 108167315|GeneID:108167315 21193556|PMID:21193556 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21193556] mediates positive regulation of transcription by T-box 19 Tpit site | mediates positive regulation of transcription by T-box 19 -chr2 25168903 25168929 protein_bind: cAMP responsive element binding protein 1 0 + 25168903 25168929 192,0,0 protein_binding_site hPOMC-CRE; also known as HPE4 108167315|GeneID:108167315 7865128|PMID:7865128 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7865128] mediates response to cyclic AMP hPOMC-CRE; also known as HPE4 | mediates response to cyclic AMP | cAMP responsive element binding protein 1 -chr2 25168957 25168986 protein_bind: E2F transcription factor 4; transcription factor Dp-1 0 + 25168957 25168986 192,0,0 protein_binding_site IVA probe 108167315|GeneID:108167315 10353606|PMID:10353606 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10353606] positive regulation of transcription IVA probe | positive regulation of transcription | E2F transcription factor 4; transcription factor Dp-1 -chr2 25176930 25179686 enhancer 0 + 25176930 25179686 0,128,128 enhancer -11 kb to -8 kb region 106728414|GeneID:106728414 15798195|PMID:15798195 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:15798195] enhancer in arcuate neurons -11 kb to -8 kb region | enhancer in arcuate neurons -chr2 25177360 25177534 conserved_region 0 + 25177360 25177534 192,0,192 sequence_feature conserved region; nPE2 106728414|GeneID:106728414 15798195|PMID:15798195 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:15798195] conserved region; nPE2 -chr2 25178596 25179232 conserved_region 0 + 25178596 25179232 192,0,192 sequence_feature conserved region; nPE1 106728414|GeneID:106728414 15798195|PMID:15798195 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:15798195] conserved region; nPE1 -chr2 25178912 25179066 conserved_region 0 + 25178912 25179066 192,0,192 sequence_feature conserved region; nPE1core similar to MaLR retrotransposon 106728414|GeneID:106728414 21876128|PMID:21876128 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:21876128] conserved region; nPE1core similar to MaLR retrotransposon -chr2 29108111 29108699 enhancer 0 + 29108111 29108699 0,128,128 enhancer amplified fragment containing the chr2:29331222-29331429 (GRCh37) CAGE region 108281152|GeneID:108281152,79745|GeneID:79745 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr2:29331222-29331429 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr2 29108355 29108563 CAGE_cluster 0 + 29108355 29108563 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281152|GeneID:108281152,79745|GeneID:79745 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 36333736 36337465 meiotic 0 + 36333736 36337465 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457596|GeneID:107457596 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr2 36335145 36336236 meiotic 0 + 36335145 36336236 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457596|GeneID:107457596 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr2 36335336 36336836 meiotic 0 + 36335336 36336836 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457596|GeneID:107457596 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr2 36335417 36336876 meiotic 0 + 36335417 36336876 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457596|GeneID:107457596 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr2 36336011 36336024 nucleotide_motif 0 + 36336011 36336024 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot 107457596|GeneID:107457596 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot -chr2 36336015 36336028 nucleotide_motif 0 + 36336015 36336028 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot 107457596|GeneID:107457596 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot -chr2 37416726 37418317 enhancer 0 + 37416726 37418317 0,128,128 enhancer VISTA enhancer hs1480 110121122|GeneID:110121122 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/6] VISTA enhancer hs1480 | enhancer in: limb[3/6] -chr2 43217581 43220159 enhancer 0 + 43217581 43220159 0,128,128 enhancer VISTA enhancer hs1909 110121222|GeneID:110121222 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[6/9] | limb[7/9] | heart[9/9] VISTA enhancer hs1909 | enhancer in: somite[6/9] | limb[7/9] | heart[9/9] -chr2 44803429 44805600 enhancer 0 + 44803429 44805600 0,128,128 enhancer VISTA enhancer hs541 110120696|GeneID:110120696 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/9] VISTA enhancer hs541 | enhancer in: forebrain[6/9] -chr2 44879787 44880514 enhancer 0 + 44879787 44880514 0,128,128 enhancer VISTA enhancer hs149 110120598|GeneID:110120598 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/10] VISTA enhancer hs149 | enhancer in: midbrain (mesencephalon)[7/10] -chr2 47068635 47072293 enhancer 0 + 47068635 47072293 0,128,128 enhancer VISTA enhancer hs1967 110121235|GeneID:110121235,57217|GeneID:57217 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[9/9] | heart[8/9] VISTA enhancer hs1967 | enhancer in: somite[9/9] | heart[8/9] -chr2 50613289 50616899 enhancer 0 + 50613289 50616899 0,128,128 enhancer VISTA enhancer hs1348 110121071|GeneID:110121071 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/8] VISTA enhancer hs1348 | enhancer in: heart[4/8] -chr2 58112573 58113270 CAGE_cluster 0 + 58112573 58113270 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281131|GeneID:108281131,7444|GeneID:7444 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 58112606 58113191 enhancer 0 + 58112606 58113191 0,128,128 enhancer amplified fragment containing most of the chr2:58339709-58340405 (GRCh37) CAGE region 108281131|GeneID:108281131,7444|GeneID:7444 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr2:58339709-58340405 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr2 58521204 58523005 enhancer 0 + 58521204 58523005 0,128,128 enhancer VISTA enhancer hs1174 110121015|GeneID:110121015,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[6/6] VISTA enhancer hs1174 | enhancer in: dorsal root ganglion[6/6] -chr2 58572593 58573472 enhancer 0 + 58572593 58573472 0,128,128 enhancer VISTA enhancer hs1071 110120980|GeneID:110120980,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[4/10] VISTA enhancer hs1071 | enhancer in: ear[4/10] -chr2 58632861 58634539 enhancer 0 + 58632861 58634539 0,128,128 enhancer VISTA enhancer hs1152 110121008|GeneID:110121008,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/5] VISTA enhancer hs1152 | enhancer in: limb[4/5] -chr2 58748602 58749980 enhancer 0 + 58748602 58749980 0,128,128 enhancer VISTA enhancer hs1067 110120979|GeneID:110120979,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[3/7] | limb[5/7] VISTA enhancer hs1067 | enhancer in: dorsal root ganglion[3/7] | limb[5/7] -chr2 58874935 58876245 enhancer 0 + 58874935 58876245 0,128,128 enhancer VISTA enhancer hs1199 110121024|GeneID:110121024,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[3/6] VISTA enhancer hs1199 | enhancer in: other[3/6] -chr2 58951856 58953107 enhancer 0 + 58951856 58953107 0,128,128 enhancer VISTA enhancer hs1181 110121018|GeneID:110121018,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/8] VISTA enhancer hs1181 | enhancer in: heart[3/8] -chr2 58971769 58973394 enhancer 0 + 58971769 58973394 0,128,128 enhancer VISTA enhancer hs393 110120667|GeneID:110120667,400955|GeneID:400955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[6/12] VISTA enhancer hs393 | enhancer in: eye[6/12] -chr2 59077838 59079758 enhancer 0 + 59077838 59079758 0,128,128 enhancer VISTA enhancer hs975 110120817|GeneID:110120817 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/7] VISTA enhancer hs975 | enhancer in: midbrain (mesencephalon)[4/7] -chr2 59249468 59250820 enhancer 0 + 59249468 59250820 0,128,128 enhancer VISTA enhancer hs1119 110120997|GeneID:110120997,101927285|GeneID:101927285 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[5/6] VISTA enhancer hs1119 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[5/6] -chr2 59313504 59314802 enhancer 0 + 59313504 59314802 0,128,128 enhancer VISTA enhancer hs836 110120782|GeneID:110120782 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[5/12] VISTA enhancer hs836 | enhancer in: facial mesenchyme[5/12] -chr2 59519241 59519857 enhancer 0 + 59519241 59519857 0,128,128 enhancer VISTA enhancer hs394 110120668|GeneID:110120668 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/11] VISTA enhancer hs394 | enhancer in: midbrain (mesencephalon)[4/11] -chr2 60125378 60126467 enhancer 0 + 60125378 60126467 0,128,128 enhancer VISTA enhancer hs779 110120767|GeneID:110120767 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/9] | forebrain[5/9] VISTA enhancer hs779 | enhancer in: midbrain (mesencephalon)[8/9] | forebrain[5/9] -chr2 60214359 60215380 enhancer 0 + 60214359 60215380 0,128,128 enhancer VISTA enhancer hs399 110120669|GeneID:110120669 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/7] VISTA enhancer hs399 | enhancer in: forebrain[5/7] -chr2 60270921 60274878 enhancer 0 + 60270921 60274878 0,128,128 enhancer VISTA enhancer hs1535 110121136|GeneID:110121136 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] VISTA enhancer hs1535 | enhancer in: hindbrain (rhombencephalon)[4/5] -chr2 60534268 60535938 enhancer 0 + 60534268 60535938 0,128,128 enhancer VISTA enhancer hs957 110120811|GeneID:110120811 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs957 | enhancer in: forebrain[4/4] -chr2 60627920 60629753 enhancer 0 + 60627920 60629753 0,128,128 enhancer VISTA enhancer hs1142 110121003|GeneID:110121003 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/3] VISTA enhancer hs1142 | enhancer in: hindbrain (rhombencephalon)[3/3] -chr2 62966719 62967794 enhancer 0 + 62966719 62967794 0,128,128 enhancer VISTA enhancer hs690 110120746|GeneID:110120746,23301|GeneID:23301 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/11] VISTA enhancer hs690 | enhancer in: midbrain (mesencephalon)[7/11] -chr2 63048559 63049968 enhancer 0 + 63048559 63049968 0,128,128 enhancer VISTA enhancer hs1066 110120978|GeneID:110120978 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[5/5] VISTA enhancer hs1066 | enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[5/5] -chr2 66070392 66072080 enhancer 0 + 66070392 66072080 0,128,128 enhancer VISTA enhancer hs205 110120611|GeneID:110120611,105369168|GeneID:105369168 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: genital tubercle[8/9] VISTA enhancer hs205 | enhancer in: genital tubercle[8/9] -chr2 66535382 66537956 enhancer 0 + 66535382 66537956 0,128,128 enhancer VISTA enhancer hs1210 110121028|GeneID:110121028,4211|GeneID:4211 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs1210 | enhancer in: forebrain[4/5] -chr2 66824968 66825769 enhancer 0 + 66824968 66825769 0,128,128 enhancer VISTA enhancer hs1244 110121039|GeneID:110121039 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[5/8] VISTA enhancer hs1244 | enhancer in: ear[5/8] -chr2 67054124 67055408 enhancer 0 + 67054124 67055408 0,128,128 enhancer VISTA enhancer hs831 110120780|GeneID:110120780 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/7] | other[7/7] VISTA enhancer hs831 | enhancer in: hindbrain (rhombencephalon)[7/7] | other[7/7] -chr2 68192840 68194859 enhancer 0 + 68192840 68194859 0,128,128 enhancer VISTA enhancer hs2040 110121243|GeneID:110121243 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[3/5] VISTA enhancer hs2040 | enhancer in: nose[3/5] -chr2 70088614 70088781 enhancer 0 + 70088614 70088781 0,128,128 enhancer 106783504|GeneID:106783504,5093|GeneID:5093 17135569|PMID:17135569 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr2 71490875 71494083 enhancer 0 + 71490875 71494083 0,128,128 enhancer VISTA enhancer hs2170 110121268|GeneID:110121268,8291|GeneID:8291 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[3/3] VISTA enhancer hs2170 | enhancer in: blood vessels[3/3] -chr2 71670882 71673762 enhancer 0 + 71670882 71673762 0,128,128 enhancer VISTA enhancer hs1479 110121121|GeneID:110121121,8291|GeneID:8291 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/6] | tail[5/6] VISTA enhancer hs1479 | enhancer in: limb[6/6] | tail[5/6] -chr2 72897600 72898962 enhancer 0 + 72897600 72898962 0,128,128 enhancer VISTA enhancer hs1025 110120967|GeneID:110120967 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/8] VISTA enhancer hs1025 | enhancer in: forebrain[7/8] -chr2 77088676 77091793 retrotransposon:HERVH-int 0 + 77088676 77091793 0,0,192 mobile_genetic_element direction; forward 108021854|GeneID:108021854 direction; forward -chr2 77091142 77091192 non_allelic_homologous 0 + 77091142 77091192 160,82,45 recombination_feature patient 7 2p12 distal NAHR recombination breakpoint sub-region, recombines with the patient 7 2p12 proximal NAHR recombination breakpoint sub-region within the 2p12 proximal HERV-mediated recombination region, resulting in a duplication 108021854|GeneID:108021854 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 7 2p12 distal NAHR recombination breakpoint sub-region, recombines with the patient 7 2p12 proximal NAHR recombination breakpoint sub-region within the 2p12 proximal HERV-mediated recombination region, resulting in a duplication -chr2 77091294 77091435 non_allelic_homologous 0 + 77091294 77091435 160,82,45 recombination_feature patient 6 2p12 distal NAHR recombination breakpoint sub-region, recombines with the patient 6 2p12 proximal NAHR recombination breakpoint sub-region within the 2p12 proximal HERV-mediated recombination region, resulting in a deletion 108021854|GeneID:108021854 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 6 2p12 distal NAHR recombination breakpoint sub-region, recombines with the patient 6 2p12 proximal NAHR recombination breakpoint sub-region within the 2p12 proximal HERV-mediated recombination region, resulting in a deletion -chr2 77091550 77091614 non_allelic_homologous 0 + 77091550 77091614 160,82,45 recombination_feature patient 4 and 5 2p12 distal NAHR recombination breakpoint sub-region, recombines with the patient 4 and 5 2p12 proximal NAHR recombination breakpoint sub-region within the 2p12 proximal HERV-mediated recombination region, resulting in a deletion 108021854|GeneID:108021854 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 4 and 5 2p12 distal NAHR recombination breakpoint sub-region, recombines with the patient 4 and 5 2p12 proximal NAHR recombination breakpoint sub-region within the 2p12 proximal HERV-mediated recombination region, resulting in a deletion -chr2 77966029 77968522 retrotransposon:HERVH-int 0 + 77966029 77968522 0,0,192 mobile_genetic_element direction; forward 108021855|GeneID:108021855 direction; forward -chr2 77967875 77967925 non_allelic_homologous 0 + 77967875 77967925 160,82,45 recombination_feature patient 7 2p12 proximal NAHR recombination breakpoint sub-region, recombines with the patient 7 2p12 distal NAHR recombination breakpoint sub-region within the 2p12 distal HERV-mediated recombination region, resulting in a duplication 108021855|GeneID:108021855 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 7 2p12 proximal NAHR recombination breakpoint sub-region, recombines with the patient 7 2p12 distal NAHR recombination breakpoint sub-region within the 2p12 distal HERV-mediated recombination region, resulting in a duplication -chr2 77968027 77968168 non_allelic_homologous 0 + 77968027 77968168 160,82,45 recombination_feature patient 6 2p12 proximal NAHR recombination breakpoint sub-region, recombines with the patient 6 2p12 distal NAHR recombination breakpoint sub-region within the 2p12 distal HERV-mediated recombination region, resulting in a deletion 108021855|GeneID:108021855 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 6 2p12 proximal NAHR recombination breakpoint sub-region, recombines with the patient 6 2p12 distal NAHR recombination breakpoint sub-region within the 2p12 distal HERV-mediated recombination region, resulting in a deletion -chr2 77968283 77968347 non_allelic_homologous 0 + 77968283 77968347 160,82,45 recombination_feature patient 4 and 5 2p12 proximal NAHR recombination breakpoint sub-region, recombines with the patient 4 and 5 2p12 distal NAHR recombination breakpoint sub-region within the 2p12 distal HERV-mediated recombination region, resulting in a deletion 108021855|GeneID:108021855 25246103|PMID:25246103 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25246103] patient 4 and 5 2p12 proximal NAHR recombination breakpoint sub-region, recombines with the patient 4 and 5 2p12 distal NAHR recombination breakpoint sub-region within the 2p12 distal HERV-mediated recombination region, resulting in a deletion -chr2 85770343 85773882 enhancer 0 + 85770343 85773882 0,128,128 enhancer VISTA enhancer hs1652 110121178|GeneID:110121178,84913|GeneID:84913 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[6/8] VISTA enhancer hs1652 | enhancer in: other[6/8] -chr2 86039326 86039457 enhancer 0 + 86039326 86039457 0,128,128 enhancer 106783498|GeneID:106783498 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr2 86786075 86787231 enhancer 0 + 86786075 86787231 0,128,128 enhancer SphI/XmnI fragment 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8413295] enhancer in JM and Jurkat T cell lines SphI/XmnI fragment | enhancer in JM and Jurkat T cell lines -chr2 86786075 86788076 DNase_I_hypersensitive_site 0 + 86786075 86788076 0,128,128 region HS2 and HS3; HPB.ALL and Jurkat cells; the nucleotide coordinates are approximate for this feature 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8413295] HS2 and HS3; HPB.ALL and Jurkat cells; the nucleotide coordinates are approximate for this feature -chr2 86786179 86787231 enhancer 0 + 86786179 86787231 0,128,128 enhancer SphI/AflII hCD8-ED deletion fragment 106699567|GeneID:106699567 8921442|PMID:8921442 EXISTENCE:knockout evidence [ECO:0001091][PMID:8921442] required for CD8A expression in NK1.1+ bone marrow cells in mouse transgenic model SphI/AflII hCD8-ED deletion fragment | required for CD8A expression in NK1.1+ bone marrow cells in mouse transgenic model -chr2 86786359 86787019 enhancer 0 + 86786359 86787019 0,128,128 enhancer 653 nt core enhancer, defined by Tth111I/delta280 site 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8413295] 653 nt core enhancer, defined by Tth111I/delta280 site -chr2 86786366 86786397 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 1 0 + 86786366 86786397 192,0,0 protein_binding_site Ets-1 probe 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8413295] Ets-1 probe | v-ets avian erythroblastosis virus E26 oncogene homolog 1 -chr2 86786611 86786642 protein_bind: hepatocyte nuclear factor 1-alpha 0 + 86786611 86786642 192,0,0 protein_binding_site TCF-1 probe 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8413295] TCF-1 probe | hepatocyte nuclear factor 1-alpha -chr2 86786738 86787020 SINE:AluY 0 + 86786738 86787020 0,0,192 mobile_genetic_element Alu stem R described in PMID:7853405 106699567|GeneID:106699567 7853405|PMID:7853405 Alu stem R described in PMID:7853405 -chr2 86786765 86786794 protein_bind: IKAROS family zinc finger 1 (Ikaros) 0 + 86786765 86786794 192,0,0 protein_binding_site downstream LYF1 probe 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8413295] downstream LYF1 probe | IKAROS family zinc finger 1 (Ikaros) -chr2 86786866 86787253 stem_loop: supported by P1 nuclease cleavage 0 + 86786866 86787253 0,0,0 stem_loop supported by P1 nuclease cleavage 106699567|GeneID:106699567 7853405|PMID:7853405 EXISTENCE:in vitro cleavage assay evidence [ECO:0001058][PMID:7853405] blocks enhancer activity supported by P1 nuclease cleavage | blocks enhancer activity -chr2 86786899 86786928 protein_bind: IKAROS family zinc finger 1 (Ikaros) 0 + 86786899 86786928 192,0,0 protein_binding_site upstream LYF1 probe 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8413295] upstream LYF1 probe | IKAROS family zinc finger 1 (Ikaros) -chr2 86786986 86787017 protein_bind: GATA binding protein 3 0 + 86786986 86787017 192,0,0 protein_binding_site GATA-3 probe 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8413295] GATA-3 probe | GATA binding protein 3 -chr2 86787047 86787231 transcriptional_cis_regulatory_region 0 + 86787047 86787231 0,128,128 region delta204 to XmnI region 106699567|GeneID:106699567 7853405|PMID:7853405,8413295|PMID:8413295 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8413295, PMID:7853405] position-dependent negative regulator of enhancer activity delta204 to XmnI region | position-dependent negative regulator of enhancer activity -chr2 86787099 86787253 retrotransposon:AluS 0 + 86787099 86787253 0,0,192 mobile_genetic_element half-Alu stem L described in PMID:7853405 106699567|GeneID:106699567 7853405|PMID:7853405 half-Alu stem L described in PMID:7853405 -chr2 86788784 86789185 DNase_I_hypersensitive_site 0 + 86788784 86789185 0,128,128 region HS1; the nucleotide coordinates are approximate for this feature 106699567|GeneID:106699567 8413295|PMID:8413295 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:8413295] HS1; the nucleotide coordinates are approximate for this feature -chr2 88845564 88846667 enhancer 0 + 88845564 88846667 0,128,128 enhancer amplified fragment containing the chr2:89145079-89146178 (GRCh37) CAGE-defined region 108348023|GeneID:108348023 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr2:89145079-89146178 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr2 88885571 88885620 IGKV4-1 leader sequence 0 + 88885571 88885620 192,0,192 sequence_feature IGKV4-1 leader sequence 28908|GeneID:28908 IGKV4-1 leader sequence -chr2 88885839 88885850 IGKV4-1 leader sequence 0 + 88885839 88885850 192,0,192 sequence_feature IGKV4-1 leader sequence 28908|GeneID:28908 IGKV4-1 leader sequence -chr2 88897294 88897343 IGKV5-2 leader sequence 0 + 88897294 88897343 192,0,192 sequence_feature IGKV5-2 leader sequence 28907|GeneID:28907 IGKV5-2 leader sequence -chr2 88897488 88897499 IGKV5-2 leader sequence 0 + 88897488 88897499 192,0,192 sequence_feature IGKV5-2 leader sequence 28907|GeneID:28907 IGKV5-2 leader sequence -chr2 88915376 88915387 IGKV7-3 leader sequence 0 - 88915376 88915387 192,0,192 sequence_feature IGKV7-3 leader sequence 28905|GeneID:28905 IGKV7-3 leader sequence -chr2 88915629 88915678 IGKV7-3 leader sequence 0 - 88915629 88915678 192,0,192 sequence_feature IGKV7-3 leader sequence 28905|GeneID:28905 IGKV7-3 leader sequence -chr2 88931950 88931961 IGKV2-4 leader sequence 0 - 88931950 88931961 192,0,192 sequence_feature IGKV2-4 leader sequence 28929|GeneID:28929 IGKV2-4 leader sequence -chr2 88932329 88932378 IGKV2-4 leader sequence 0 - 88932329 88932378 192,0,192 sequence_feature IGKV2-4 leader sequence 28929|GeneID:28929 IGKV2-4 leader sequence -chr2 88947585 88947596 IGKV1-5 leader sequence 0 - 88947585 88947596 192,0,192 sequence_feature IGKV1-5 leader sequence 28299|GeneID:28299 IGKV1-5 leader sequence -chr2 88947721 88947776 IGKV1-5 leader sequence 0 - 88947721 88947776 192,0,192 sequence_feature IGKV1-5 leader sequence 28299|GeneID:28299 IGKV1-5 leader sequence -chr2 88966546 88966557 IGKV1-6 leader sequence 0 - 88966546 88966557 192,0,192 sequence_feature IGKV1-6 leader sequence 28943|GeneID:28943 IGKV1-6 leader sequence -chr2 88966683 88966738 IGKV1-6 leader sequence 0 - 88966683 88966738 192,0,192 sequence_feature IGKV1-6 leader sequence 28943|GeneID:28943 IGKV1-6 leader sequence -chr2 88978755 88978766 IGKV3-7 leader sequence 0 - 88978755 88978766 192,0,192 sequence_feature IGKV3-7 leader sequence 28915|GeneID:28915 IGKV3-7 leader sequence -chr2 88978935 88978984 IGKV3-7 leader sequence 0 - 88978935 88978984 192,0,192 sequence_feature IGKV3-7 leader sequence 28915|GeneID:28915 IGKV3-7 leader sequence -chr2 88992693 88992704 IGKV1-8 leader sequence 0 - 88992693 88992704 192,0,192 sequence_feature IGKV1-8 leader sequence 28942|GeneID:28942 IGKV1-8 leader sequence -chr2 88992829 88992878 IGKV1-8 leader sequence 0 - 88992829 88992878 192,0,192 sequence_feature IGKV1-8 leader sequence 28942|GeneID:28942 IGKV1-8 leader sequence -chr2 89010266 89010277 IGKV1-9 leader sequence 0 - 89010266 89010277 192,0,192 sequence_feature IGKV1-9 leader sequence 28941|GeneID:28941 IGKV1-9 leader sequence -chr2 89010402 89010457 IGKV1-9 leader sequence 0 - 89010402 89010457 192,0,192 sequence_feature IGKV1-9 leader sequence 28941|GeneID:28941 IGKV1-9 leader sequence -chr2 89020292 89020303 IGKV2-10 leader sequence 0 - 89020292 89020303 192,0,192 sequence_feature IGKV2-10 leader sequence 28928|GeneID:28928 IGKV2-10 leader sequence -chr2 89020636 89020685 IGKV2-10 leader sequence 0 - 89020636 89020685 192,0,192 sequence_feature IGKV2-10 leader sequence 28928|GeneID:28928 IGKV2-10 leader sequence -chr2 89027457 89027466 IGKV3-11 leader sequence 0 - 89027457 89027466 192,0,192 sequence_feature IGKV3-11 leader sequence 28914|GeneID:28914 IGKV3-11 leader sequence -chr2 89027635 89027684 IGKV3-11 leader sequence 0 - 89027635 89027684 192,0,192 sequence_feature IGKV3-11 leader sequence 28914|GeneID:28914 IGKV3-11 leader sequence -chr2 89040508 89040519 IGKV1-12 leader sequence 0 - 89040508 89040519 192,0,192 sequence_feature IGKV1-12 leader sequence 28940|GeneID:28940 IGKV1-12 leader sequence -chr2 89040643 89040698 IGKV1-12 leader sequence 0 - 89040643 89040698 192,0,192 sequence_feature IGKV1-12 leader sequence 28940|GeneID:28940 IGKV1-12 leader sequence -chr2 89046274 89046285 IGKV1-13 leader sequence 0 - 89046274 89046285 192,0,192 sequence_feature IGKV1-13 leader sequence 28939|GeneID:28939 IGKV1-13 leader sequence -chr2 89046411 89046466 IGKV1-13 leader sequence 0 - 89046411 89046466 192,0,192 sequence_feature IGKV1-13 leader sequence 28939|GeneID:28939 IGKV1-13 leader sequence -chr2 89078319 89078330 IGKV2-14 leader sequence 0 - 89078319 89078330 192,0,192 sequence_feature IGKV2-14 leader sequence 28927|GeneID:28927 IGKV2-14 leader sequence -chr2 89078735 89078784 IGKV2-14 leader sequence 0 - 89078735 89078784 192,0,192 sequence_feature IGKV2-14 leader sequence 28927|GeneID:28927 IGKV2-14 leader sequence -chr2 89085371 89085472 IGKV3-15 leader sequence 0 - 89085371 89085472 192,0,192 sequence_feature IGKV3-15 leader sequence 28913|GeneID:28913 IGKV3-15 leader sequence -chr2 89085641 89085690 IGKV3-15 leader sequence 0 - 89085641 89085690 192,0,192 sequence_feature IGKV3-15 leader sequence 28913|GeneID:28913 IGKV3-15 leader sequence -chr2 89100143 89100154 IGKV1-16 leader sequence 0 - 89100143 89100154 192,0,192 sequence_feature IGKV1-16 leader sequence 28938|GeneID:28938 IGKV1-16 leader sequence -chr2 89100279 89100334 IGKV1-16 leader sequence 0 - 89100279 89100334 192,0,192 sequence_feature IGKV1-16 leader sequence 28938|GeneID:28938 IGKV1-16 leader sequence -chr2 89117626 89117637 IGKV1-17 leader sequence 0 - 89117626 89117637 192,0,192 sequence_feature IGKV1-17 leader sequence 28937|GeneID:28937 IGKV1-17 leader sequence -chr2 89117762 89117817 IGKV1-17 leader sequence 0 - 89117762 89117817 192,0,192 sequence_feature IGKV1-17 leader sequence 28937|GeneID:28937 IGKV1-17 leader sequence -chr2 89129005 89129016 IGKV2-18 leader sequence 0 - 89129005 89129016 192,0,192 sequence_feature IGKV2-18 leader sequence 28926|GeneID:28926 IGKV2-18 leader sequence -chr2 89129433 89129482 IGKV2-18 leader sequence 0 - 89129433 89129482 192,0,192 sequence_feature IGKV2-18 leader sequence 28926|GeneID:28926 IGKV2-18 leader sequence -chr2 89142861 89142872 IGKV3-20 leader sequence 0 - 89142861 89142872 192,0,192 sequence_feature IGKV3-20 leader sequence 28912|GeneID:28912 IGKV3-20 leader sequence -chr2 89143059 89143108 IGKV3-20 leader sequence 0 - 89143059 89143108 192,0,192 sequence_feature IGKV3-20 leader sequence 28912|GeneID:28912 IGKV3-20 leader sequence -chr2 89160035 89160046 IGKV6-21 leader sequence 0 - 89160035 89160046 192,0,192 sequence_feature IGKV6-21 leader sequence 28906|GeneID:28906 IGKV6-21 leader sequence -chr2 89160256 89160302 IGKV6-21 leader sequence 0 - 89160256 89160302 192,0,192 sequence_feature IGKV6-21 leader sequence 28906|GeneID:28906 IGKV6-21 leader sequence -chr2 89171033 89171044 IGKV1-22 leader sequence 0 - 89171033 89171044 192,0,192 sequence_feature IGKV1-22 leader sequence 28936|GeneID:28936 IGKV1-22 leader sequence -chr2 89171157 89171212 IGKV1-22 leader sequence 0 - 89171157 89171212 192,0,192 sequence_feature IGKV1-22 leader sequence 28936|GeneID:28936 IGKV1-22 leader sequence -chr2 89172539 89172550 IGKV2-23 leader sequence 0 - 89172539 89172550 192,0,192 sequence_feature IGKV2-23 leader sequence 28924|GeneID:28924 IGKV2-23 leader sequence -chr2 89172994 89173043 IGKV2-23 leader sequence 0 - 89172994 89173043 192,0,192 sequence_feature IGKV2-23 leader sequence 28924|GeneID:28924 IGKV2-23 leader sequence -chr2 89176627 89176638 IGKV2-24 leader sequence 0 - 89176627 89176638 192,0,192 sequence_feature IGKV2-24 leader sequence 28923|GeneID:28923 IGKV2-24 leader sequence -chr2 89177081 89177130 IGKV2-24 leader sequence 0 - 89177081 89177130 192,0,192 sequence_feature IGKV2-24 leader sequence 28923|GeneID:28923 IGKV2-24 leader sequence -chr2 89192757 89192768 IGKV3-25 leader sequence 0 - 89192757 89192768 192,0,192 sequence_feature IGKV3-25 leader sequence 28911|GeneID:28911 IGKV3-25 leader sequence -chr2 89194216 89194268 IGKV3-25 leader sequence 0 - 89194216 89194268 192,0,192 sequence_feature IGKV3-25 leader sequence 28911|GeneID:28911 IGKV3-25 leader sequence -chr2 89196378 89196389 IGKV2-26 leader sequence 0 - 89196378 89196389 192,0,192 sequence_feature IGKV2-26 leader sequence 28922|GeneID:28922 IGKV2-26 leader sequence -chr2 89196780 89196829 IGKV2-26 leader sequence 0 - 89196780 89196829 192,0,192 sequence_feature IGKV2-26 leader sequence 28922|GeneID:28922 IGKV2-26 leader sequence -chr2 89213707 89213718 IGKV1-27 leader sequence 0 - 89213707 89213718 192,0,192 sequence_feature IGKV1-27 leader sequence 28935|GeneID:28935 IGKV1-27 leader sequence -chr2 89213842 89213897 IGKV1-27 leader sequence 0 - 89213842 89213897 192,0,192 sequence_feature IGKV1-27 leader sequence 28935|GeneID:28935 IGKV1-27 leader sequence -chr2 89221997 89222008 IGKV2-28 leader sequence 0 - 89221997 89222008 192,0,192 sequence_feature IGKV2-28 leader sequence 28921|GeneID:28921 IGKV2-28 leader sequence -chr2 89222382 89222431 IGKV2-28 leader sequence 0 - 89222382 89222431 192,0,192 sequence_feature IGKV2-28 leader sequence 28921|GeneID:28921 IGKV2-28 leader sequence -chr2 89234484 89234495 IGKV2-29 leader sequence 0 - 89234484 89234495 192,0,192 sequence_feature IGKV2-29 leader sequence 28920|GeneID:28920 IGKV2-29 leader sequence -chr2 89234862 89234911 IGKV2-29 leader sequence 0 - 89234862 89234911 192,0,192 sequence_feature IGKV2-29 leader sequence 28920|GeneID:28920 IGKV2-29 leader sequence -chr2 89245080 89245091 IGKV2-30 leader sequence 0 - 89245080 89245091 192,0,192 sequence_feature IGKV2-30 leader sequence 28919|GeneID:28919 IGKV2-30 leader sequence -chr2 89245517 89245566 IGKV2-30 leader sequence 0 - 89245517 89245566 192,0,192 sequence_feature IGKV2-30 leader sequence 28919|GeneID:28919 IGKV2-30 leader sequence -chr2 89252480 89252491 IGKV3-31 leader sequence 0 - 89252480 89252491 192,0,192 sequence_feature IGKV3-31 leader sequence 28910|GeneID:28910 IGKV3-31 leader sequence -chr2 89252696 89252735 IGKV3-31 leader sequence 0 - 89252696 89252735 192,0,192 sequence_feature IGKV3-31 leader sequence 28910|GeneID:28910 IGKV3-31 leader sequence -chr2 89253831 89253842 IGKV1-32 leader sequence 0 - 89253831 89253842 192,0,192 sequence_feature IGKV1-32 leader sequence 28934|GeneID:28934 IGKV1-32 leader sequence -chr2 89253960 89254015 IGKV1-32 leader sequence 0 - 89253960 89254015 192,0,192 sequence_feature IGKV1-32 leader sequence 28934|GeneID:28934 IGKV1-32 leader sequence -chr2 89268285 89268296 IGKV1-33 leader sequence 0 - 89268285 89268296 192,0,192 sequence_feature IGKV1-33 leader sequence 28933|GeneID:28933 IGKV1-33 leader sequence -chr2 89268420 89268475 IGKV1-33 leader sequence 0 - 89268420 89268475 192,0,192 sequence_feature IGKV1-33 leader sequence 28933|GeneID:28933 IGKV1-33 leader sequence -chr2 89275542 89275553 IGKV3-34 leader sequence 0 - 89275542 89275553 192,0,192 sequence_feature IGKV3-34 leader sequence 28909|GeneID:28909 IGKV3-34 leader sequence -chr2 89275738 89275787 IGKV3-34 leader sequence 0 - 89275738 89275787 192,0,192 sequence_feature IGKV3-34 leader sequence 28909|GeneID:28909 IGKV3-34 leader sequence -chr2 89286980 89286991 IGKV1-35 leader sequence 0 - 89286980 89286991 192,0,192 sequence_feature IGKV1-35 leader sequence 28932|GeneID:28932 IGKV1-35 leader sequence -chr2 89287115 89287170 IGKV1-35 leader sequence 0 - 89287115 89287170 192,0,192 sequence_feature IGKV1-35 leader sequence 28932|GeneID:28932 IGKV1-35 leader sequence -chr2 89297548 89297559 IGKV1-37 leader sequence 0 - 89297548 89297559 192,0,192 sequence_feature IGKV1-37 leader sequence 28931|GeneID:28931 IGKV1-37 leader sequence -chr2 89297683 89297738 IGKV1-37 leader sequence 0 - 89297683 89297738 192,0,192 sequence_feature IGKV1-37 leader sequence 28931|GeneID:28931 IGKV1-37 leader sequence -chr2 89319911 89319922 IGKV1-39 leader sequence 0 - 89319911 89319922 192,0,192 sequence_feature IGKV1-39 leader sequence 28930|GeneID:28930 IGKV1-39 leader sequence -chr2 89320042 89320099 IGKV1-39 leader sequence 0 - 89320042 89320099 192,0,192 sequence_feature IGKV1-39 leader sequence 28930|GeneID:28930 IGKV1-39 leader sequence -chr2 89330419 89330430 IGKV2-40 leader sequence 0 - 89330419 89330430 192,0,192 sequence_feature IGKV2-40 leader sequence 28916|GeneID:28916 IGKV2-40 leader sequence -chr2 89851757 89851806 IGKV2D-40 leader sequence 0 + 89851757 89851806 192,0,192 sequence_feature IGKV2D-40 leader sequence 28878|GeneID:28878 IGKV2D-40 leader sequence -chr2 89852177 89852188 IGKV2D-40 leader sequence 0 + 89852177 89852188 192,0,192 sequence_feature IGKV2D-40 leader sequence 28878|GeneID:28878 IGKV2D-40 leader sequence -chr2 89862504 89862559 IGKV1D-39 leader sequence 0 + 89862504 89862559 192,0,192 sequence_feature IGKV1D-39 leader sequence 28893|GeneID:28893 IGKV1D-39 leader sequence -chr2 89862683 89862694 IGKV1D-39 leader sequence 0 + 89862683 89862694 192,0,192 sequence_feature IGKV1D-39 leader sequence 28893|GeneID:28893 IGKV1D-39 leader sequence -chr2 89884739 89884794 IGKV1D-37 leader sequence 0 + 89884739 89884794 192,0,192 sequence_feature IGKV1D-37 leader sequence 28894|GeneID:28894 IGKV1D-37 leader sequence -chr2 89884918 89884929 IGKV1D-37 leader sequence 0 + 89884918 89884929 192,0,192 sequence_feature IGKV1D-37 leader sequence 28894|GeneID:28894 IGKV1D-37 leader sequence -chr2 89895313 89895368 IGKV1D-35 leader sequence 0 + 89895313 89895368 192,0,192 sequence_feature IGKV1D-35 leader sequence 28895|GeneID:28895 IGKV1D-35 leader sequence -chr2 89895492 89895503 IGKV1D-35 leader sequence 0 + 89895492 89895503 192,0,192 sequence_feature IGKV1D-35 leader sequence 28895|GeneID:28895 IGKV1D-35 leader sequence -chr2 89906758 89906807 IGKV3D-34 leader sequence 0 + 89906758 89906807 192,0,192 sequence_feature IGKV3D-34 leader sequence 28871|GeneID:28871 IGKV3D-34 leader sequence -chr2 89906992 89907003 IGKV3D-34 leader sequence 0 + 89906992 89907003 192,0,192 sequence_feature IGKV3D-34 leader sequence 28871|GeneID:28871 IGKV3D-34 leader sequence -chr2 89914070 89914125 IGKV1D-33 leader sequence 0 + 89914070 89914125 192,0,192 sequence_feature IGKV1D-33 leader sequence 28896|GeneID:28896 IGKV1D-33 leader sequence -chr2 89914249 89914260 IGKV1D-33 leader sequence 0 + 89914249 89914260 192,0,192 sequence_feature IGKV1D-33 leader sequence 28896|GeneID:28896 IGKV1D-33 leader sequence -chr2 89928421 89928476 IGKV1D-32 leader sequence 0 + 89928421 89928476 192,0,192 sequence_feature IGKV1D-32 leader sequence 28897|GeneID:28897 IGKV1D-32 leader sequence -chr2 89928594 89928605 IGKV1D-32 leader sequence 0 + 89928594 89928605 192,0,192 sequence_feature IGKV1D-32 leader sequence 28897|GeneID:28897 IGKV1D-32 leader sequence -chr2 89929701 89929750 IGKV3D-31 leader sequence 0 + 89929701 89929750 192,0,192 sequence_feature IGKV3D-31 leader sequence 28872|GeneID:28872 IGKV3D-31 leader sequence -chr2 89929945 89929956 IGKV3D-31 leader sequence 0 + 89929945 89929956 192,0,192 sequence_feature IGKV3D-31 leader sequence 28872|GeneID:28872 IGKV3D-31 leader sequence -chr2 89936893 89936942 IGKV2D-30 leader sequence 0 + 89936893 89936942 192,0,192 sequence_feature IGKV2D-30 leader sequence 28881|GeneID:28881 IGKV2D-30 leader sequence -chr2 89937368 89937379 IGKV2D-30 leader sequence 0 + 89937368 89937379 192,0,192 sequence_feature IGKV2D-30 leader sequence 28881|GeneID:28881 IGKV2D-30 leader sequence -chr2 89947541 89947590 IGKV2D-29 leader sequence 0 + 89947541 89947590 192,0,192 sequence_feature IGKV2D-29 leader sequence 28882|GeneID:28882 IGKV2D-29 leader sequence -chr2 89947958 89947969 IGKV2D-29 leader sequence 0 + 89947958 89947969 192,0,192 sequence_feature IGKV2D-29 leader sequence 28882|GeneID:28882 IGKV2D-29 leader sequence -chr2 89960014 89960063 IGKV2D-28 leader sequence 0 + 89960014 89960063 192,0,192 sequence_feature IGKV2D-28 leader sequence 28883|GeneID:28883 IGKV2D-28 leader sequence -chr2 89960437 89960448 IGKV2D-28 leader sequence 0 + 89960437 89960448 192,0,192 sequence_feature IGKV2D-28 leader sequence 28883|GeneID:28883 IGKV2D-28 leader sequence -chr2 89968868 89968923 IGKV1D-27 leader sequence 0 + 89968868 89968923 192,0,192 sequence_feature IGKV1D-27 leader sequence 28898|GeneID:28898 IGKV1D-27 leader sequence -chr2 89969047 89969058 IGKV1D-27 leader sequence 0 + 89969047 89969058 192,0,192 sequence_feature IGKV1D-27 leader sequence 28898|GeneID:28898 IGKV1D-27 leader sequence -chr2 89985951 89986000 IGKV2D-26 leader sequence 0 + 89985951 89986000 192,0,192 sequence_feature IGKV2D-26 leader sequence 28884|GeneID:28884 IGKV2D-26 leader sequence -chr2 89986391 89986402 IGKV2D-26 leader sequence 0 + 89986391 89986402 192,0,192 sequence_feature IGKV2D-26 leader sequence 28884|GeneID:28884 IGKV2D-26 leader sequence -chr2 89988499 89988551 IGKV3D-25 leader sequence 0 + 89988499 89988551 192,0,192 sequence_feature IGKV3D-25 leader sequence 28873|GeneID:28873 IGKV3D-25 leader sequence -chr2 89989988 89989999 IGKV3D-25 leader sequence 0 + 89989988 89989999 192,0,192 sequence_feature IGKV3D-25 leader sequence 28873|GeneID:28873 IGKV3D-25 leader sequence -chr2 90004826 90004875 IGKV2D-24 leader sequence 0 + 90004826 90004875 192,0,192 sequence_feature IGKV2D-24 leader sequence 28885|GeneID:28885 IGKV2D-24 leader sequence -chr2 90005318 90005329 IGKV2D-24 leader sequence 0 + 90005318 90005329 192,0,192 sequence_feature IGKV2D-24 leader sequence 28885|GeneID:28885 IGKV2D-24 leader sequence -chr2 90008910 90008959 IGKV2D-23 leader sequence 0 + 90008910 90008959 192,0,192 sequence_feature IGKV2D-23 leader sequence 28886|GeneID:28886 IGKV2D-23 leader sequence -chr2 90009402 90009413 IGKV2D-23 leader sequence 0 + 90009402 90009413 192,0,192 sequence_feature IGKV2D-23 leader sequence 28886|GeneID:28886 IGKV2D-23 leader sequence -chr2 90010740 90010795 IGKV1D-22 leader sequence 0 + 90010740 90010795 192,0,192 sequence_feature IGKV1D-22 leader sequence 28899|GeneID:28899 IGKV1D-22 leader sequence -chr2 90010908 90010919 IGKV1D-22 leader sequence 0 + 90010908 90010919 192,0,192 sequence_feature IGKV1D-22 leader sequence 28899|GeneID:28899 IGKV1D-22 leader sequence -chr2 90021633 90021679 IGKV6D-21 leader sequence 0 + 90021633 90021679 192,0,192 sequence_feature IGKV6D-21 leader sequence 28870|GeneID:28870 IGKV6D-21 leader sequence -chr2 90021889 90021900 IGKV6D-21 leader sequence 0 + 90021889 90021900 192,0,192 sequence_feature IGKV6D-21 leader sequence 28870|GeneID:28870 IGKV6D-21 leader sequence -chr2 90038944 90038993 IGKV3D-20 leader sequence 0 + 90038944 90038993 192,0,192 sequence_feature IGKV3D-20 leader sequence 28874|GeneID:28874 IGKV3D-20 leader sequence -chr2 90039180 90039191 IGKV3D-20 leader sequence 0 + 90039180 90039191 192,0,192 sequence_feature IGKV3D-20 leader sequence 28874|GeneID:28874 IGKV3D-20 leader sequence -chr2 90052581 90052630 IGKV2D-18 leader sequence 0 + 90052581 90052630 192,0,192 sequence_feature IGKV2D-18 leader sequence 28888|GeneID:28888 IGKV2D-18 leader sequence -chr2 90053047 90053058 IGKV2D-18 leader sequence 0 + 90053047 90053058 192,0,192 sequence_feature IGKV2D-18 leader sequence 28888|GeneID:28888 IGKV2D-18 leader sequence -chr2 90069687 90069736 IGKV6D-41 leader sequence 0 + 90069687 90069736 192,0,192 sequence_feature IGKV6D-41 leader sequence 28869|GeneID:28869 IGKV6D-41 leader sequence -chr2 90069942 90069953 IGKV6D-41 leader sequence 0 + 90069942 90069953 192,0,192 sequence_feature IGKV6D-41 leader sequence 28869|GeneID:28869 IGKV6D-41 leader sequence -chr2 90082815 90082870 IGKV1D-17 leader sequence 0 + 90082815 90082870 192,0,192 sequence_feature IGKV1D-17 leader sequence 28900|GeneID:28900 IGKV1D-17 leader sequence -chr2 90082995 90083006 IGKV1D-17 leader sequence 0 + 90082995 90083006 192,0,192 sequence_feature IGKV1D-17 leader sequence 28900|GeneID:28900 IGKV1D-17 leader sequence -chr2 90100262 90100317 IGKV1D-16 leader sequence 0 + 90100262 90100317 192,0,192 sequence_feature IGKV1D-16 leader sequence 28901|GeneID:28901 IGKV1D-16 leader sequence -chr2 90100442 90100453 IGKV1D-16 leader sequence 0 + 90100442 90100453 192,0,192 sequence_feature IGKV1D-16 leader sequence 28901|GeneID:28901 IGKV1D-16 leader sequence -chr2 90114886 90114935 IGKV3D-15 leader sequence 0 + 90114886 90114935 192,0,192 sequence_feature 28875|GeneID:28875 sequence_feature -chr2 90115104 90115115 IGKV3D-15 leader sequence 0 + 90115104 90115115 192,0,192 sequence_feature 28875|GeneID:28875 sequence_feature -chr2 90121786 90121835 GKV2D-14 leader sequence 0 + 90121786 90121835 192,0,192 sequence_feature 28889|GeneID:28889 sequence_feature -chr2 90122240 90122251 GKV2D-14 leader sequence 0 + 90122240 90122251 192,0,192 sequence_feature 28889|GeneID:28889 sequence_feature -chr2 90154097 90154152 IGKV1D-13 leader sequence 0 + 90154097 90154152 192,0,192 sequence_feature IGKV1D-13 leader sequence 28902|GeneID:28902 IGKV1D-13 leader sequence -chr2 90154278 90154289 IGKV1D-13 leader sequence 0 + 90154278 90154289 192,0,192 sequence_feature IGKV1D-13 leader sequence 28902|GeneID:28902 IGKV1D-13 leader sequence -chr2 90159859 90159914 IGKV1D-12 leader sequence 0 + 90159859 90159914 192,0,192 sequence_feature IGKV1D-12 leader sequence 28903|GeneID:28903 IGKV1D-12 leader sequence -chr2 90160039 90160050 IGKV1D-12 leader sequence 0 + 90160039 90160050 192,0,192 sequence_feature IGKV1D-12 leader sequence 28903|GeneID:28903 IGKV1D-12 leader sequence -chr2 90172898 90172947 IGKV3D-11 leader sequence 0 + 90172898 90172947 192,0,192 sequence_feature IGKV3D-11 leader sequence 28876|GeneID:28876 IGKV3D-11 leader sequence -chr2 90173116 90173127 IGKV3D-11 leader sequence 0 + 90173116 90173127 192,0,192 sequence_feature IGKV3D-11 leader sequence 28876|GeneID:28876 IGKV3D-11 leader sequence -chr2 90179889 90179938 IGKV2D-10 leader sequence 0 + 90179889 90179938 192,0,192 sequence_feature IGKV2D-10 leader sequence 28890|GeneID:28890 IGKV2D-10 leader sequence -chr2 90180343 90180354 IGKV2D-10 leader sequence 0 + 90180343 90180354 192,0,192 sequence_feature IGKV2D-10 leader sequence 28890|GeneID:28890 IGKV2D-10 leader sequence -chr2 90190212 90190267 IGKV1D-42 leader sequence 0 + 90190212 90190267 192,0,192 sequence_feature IGKV1D-42 leader sequence 28892|GeneID:28892 IGKV1D-42 leader sequence -chr2 90210053 90210108 IGKV1-43 leader sequence 0 + 90210053 90210108 192,0,192 sequence_feature 28891|GeneID:28891 sequence_feature -chr2 90210233 90210244 IGKV1-43 leader sequence 0 + 90210233 90210244 192,0,192 sequence_feature 28891|GeneID:28891 sequence_feature -chr2 90220907 90220962 IGKV1D-8 leader sequence 0 + 90220907 90220962 192,0,192 sequence_feature IGKV1D-8 leader sequence 28904|GeneID:28904 IGKV1D-8 leader sequence -chr2 90221086 90221091 IGKV1D-8 leader sequence 0 + 90221086 90221091 192,0,192 sequence_feature IGKV1D-8 leader sequence 28904|GeneID:28904 IGKV1D-8 leader sequence -chr2 90234836 90234894 IGKV3D-7 leader sequence 0 + 90234836 90234894 192,0,192 sequence_feature IGKV3D-7 leader sequence 28877|GeneID:28877 IGKV3D-7 leader sequence -chr2 90235069 90235080 IGKV3D-7 leader sequence 0 + 90235069 90235080 192,0,192 sequence_feature IGKV3D-7 leader sequence 28877|GeneID:28877 IGKV3D-7 leader sequence -chr2 96257963 96261352 enhancer 0 + 96257963 96261352 0,128,128 enhancer VISTA enhancer hs1919 110121224|GeneID:110121224 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/13] VISTA enhancer hs1919 | enhancer in: heart[8/13] -chr2 100104798 100104824 repeat_instability_region 0 + 100104798 100104824 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat (CCG relative to the plus strand of the reference genome) is associated with intellectual disability 109113861|GeneID:109113861 24763282|PMID:24763282 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:24763282] repeat instability region; expansion of the (CGG)n trinucleotide repeat (CCG relative to the plus strand of the reference genome) is associated with intellectual disability -chr2 100104798 100104824 tandem 0 + 100104798 100104824 0,0,192 repeat_region 109113861|GeneID:109113861 repeat_region -chr2 101109635 101113030 enhancer 0 + 101109635 101113030 0,128,128 enhancer VISTA enhancer hs1933 110121226|GeneID:110121226 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/9] VISTA enhancer hs1933 | enhancer in: heart[5/9] -chr2 102921902 102923410 enhancer 0 + 102921902 102923410 0,128,128 enhancer VISTA enhancer hs1212 110121029|GeneID:110121029 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/6] VISTA enhancer hs1212 | enhancer in: heart[4/6] -chr2 103152237 103156024 enhancer 0 + 103152237 103156024 0,128,128 enhancer VISTA enhancer hs1581 110121149|GeneID:110121149 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[7/8] VISTA enhancer hs1581 | enhancer in: eye[7/8] -chr2 103175869 103177361 enhancer 0 + 103175869 103177361 0,128,128 enhancer VISTA enhancer hs1093 110120987|GeneID:110120987 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[9/9] VISTA enhancer hs1093 | enhancer in: midbrain (mesencephalon)[9/9] -chr2 103292899 103294763 enhancer 0 + 103292899 103294763 0,128,128 enhancer VISTA enhancer hs1112 110120992|GeneID:110120992 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[10/12] | midbrain (mesencephalon)[12/12] | forebrain[12/12] | limb[12/12] | branchial arch[12/12] | other[11/12] VISTA enhancer hs1112 | enhancer in: hindbrain (rhombencephalon)[10/12] | midbrain (mesencephalon)[12/12] | forebrain[12/12] | limb[12/12] | branchial arch[12/12] | other[11/12] -chr2 103400187 103403366 enhancer 0 + 103400187 103403366 0,128,128 enhancer VISTA enhancer hs1555 110121142|GeneID:110121142 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | liver[3/5] VISTA enhancer hs1555 | enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | liver[3/5] -chr2 103668999 103670334 enhancer 0 + 103668999 103670334 0,128,128 enhancer VISTA enhancer hs1147 110121005|GeneID:110121005 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[6/7] | trigeminal V (ganglion, cranial)[4/7] | cranial nerve[6/7] VISTA enhancer hs1147 | enhancer in: dorsal root ganglion[6/7] | trigeminal V (ganglion, cranial)[4/7] | cranial nerve[6/7] -chr2 103737474 103740884 enhancer 0 + 103737474 103740884 0,128,128 enhancer VISTA enhancer hs1526 110121130|GeneID:110121130 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/8] VISTA enhancer hs1526 | enhancer in: forebrain[8/8] -chr2 103961697 103964030 enhancer 0 + 103961697 103964030 0,128,128 enhancer VISTA enhancer hs1529 110121132|GeneID:110121132,107985928|GeneID:107985928 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs1529 | enhancer in: forebrain[4/4] -chr2 104051413 104054190 enhancer 0 + 104051413 104054190 0,128,128 enhancer VISTA enhancer hs1303 110121047|GeneID:110121047,107985928|GeneID:107985928 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/7] VISTA enhancer hs1303 | enhancer in: forebrain[7/7] -chr2 104070231 104072180 enhancer 0 + 104070231 104072180 0,128,128 enhancer VISTA enhancer hs1554 110121141|GeneID:110121141,107985928|GeneID:107985928 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[5/13] VISTA enhancer hs1554 | enhancer in: branchial arch[5/13] -chr2 104120059 104120907 enhancer 0 + 104120059 104120907 0,128,128 enhancer VISTA enhancer hs401 110120670|GeneID:110120670 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/7] VISTA enhancer hs401 | enhancer in: hindbrain (rhombencephalon)[4/7] -chr2 104416034 104417987 enhancer 0 + 104416034 104417987 0,128,128 enhancer VISTA enhancer hs1131 110121001|GeneID:110121001 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/8] | forebrain[5/8] VISTA enhancer hs1131 | enhancer in: midbrain (mesencephalon)[3/8] | forebrain[5/8] -chr2 104427823 104431054 enhancer 0 + 104427823 104431054 0,128,128 enhancer VISTA enhancer hs1534 110121135|GeneID:110121135 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[7/7] | forebrain[7/7] VISTA enhancer hs1534 | enhancer in: hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[7/7] | forebrain[7/7] -chr2 104516356 104517372 enhancer 0 + 104516356 104517372 0,128,128 enhancer VISTA enhancer hs702 110120750|GeneID:110120750 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/13] VISTA enhancer hs702 | enhancer in: forebrain[8/13] -chr2 104683885 104685199 enhancer 0 + 104683885 104685199 0,128,128 enhancer VISTA enhancer hs1177 110121017|GeneID:110121017 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/10] VISTA enhancer hs1177 | enhancer in: heart[3/10] -chr2 104701121 104703398 enhancer 0 + 104701121 104703398 0,128,128 enhancer VISTA enhancer hs969 110120814|GeneID:110120814,101927383|GeneID:101927383 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/9] VISTA enhancer hs969 | enhancer in: forebrain[9/9] -chr2 104848527 104851080 enhancer 0 + 104848527 104851080 0,128,128 enhancer VISTA enhancer hs1553 110121140|GeneID:110121140 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] VISTA enhancer hs1553 | enhancer in: neural tube[5/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] -chr2 104900278 104902032 enhancer 0 + 104900278 104902032 0,128,128 enhancer VISTA enhancer hs990 110120821|GeneID:110120821 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/11] | other[4/11] VISTA enhancer hs990 | enhancer in: hindbrain (rhombencephalon)[6/11] | other[4/11] -chr2 105080752 105081700 enhancer 0 + 105080752 105081700 0,128,128 enhancer VISTA enhancer hs868 110120793|GeneID:110120793,64965|GeneID:64965 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] VISTA enhancer hs868 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] -chr2 106253838 106255451 LINE:L1M4c 0 + 106253838 106255451 0,0,192 mobile_genetic_element direction; reverse 107305683|GeneID:107305683 direction; reverse -chr2 106254035 106254432 non_allelic_homologous 0 + 106254035 106254432 160,82,45 recombination_feature 2q12.2 recombination sub-region, recombines with the 2q12.3 proximal recombination sub-region 107305683|GeneID:107305683 23657883|PMID:23657883 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23657883] 2q12.2 recombination sub-region, recombines with the 2q12.3 proximal recombination sub-region -chr2 107921370 107922984 LINE:L1M4c 0 + 107921370 107922984 0,0,192 mobile_genetic_element direction; reverse 107305684|GeneID:107305684 direction; reverse -chr2 107921566 107921963 non_allelic_homologous 0 + 107921566 107921963 160,82,45 recombination_feature 2q12.3 proximal recombination sub-region, recombines with the 2q12.2 recombination sub-region 107305684|GeneID:107305684 23657883|PMID:23657883 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23657883] 2q12.3 proximal recombination sub-region, recombines with the 2q12.2 recombination sub-region -chr2 108521415 108521695 SINE:AluSq2 0 + 108521415 108521695 0,0,192 mobile_genetic_element direction; forward 107305685|GeneID:107305685 direction; forward -chr2 108521644 108521679 non_allelic_homologous 0 + 108521644 108521679 160,82,45 recombination_feature 2q12.3 distal recombination sub-region, recombines with the 2q13 recombination sub-region 107305685|GeneID:107305685 23657883|PMID:23657883 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23657883] 2q12.3 distal recombination sub-region, recombines with the 2q13 recombination sub-region -chr2 109869637 109869917 SINE:AluSq2 0 + 109869637 109869917 0,0,192 mobile_genetic_element direction; forward 107305686|GeneID:107305686 direction; forward -chr2 109869768 109870749 meiotic 0 + 109869768 109870749 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 107305686|GeneID:107305686 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr2 109869867 109869901 non_allelic_homologous 0 + 109869867 109869901 160,82,45 recombination_feature 2q13 recombination sub-region, recombines with the 2q12.3 distal recombination sub-region 107305686|GeneID:107305686 23657883|PMID:23657883 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23657883] 2q13 recombination sub-region, recombines with the 2q12.3 distal recombination sub-region -chr2 113278393 113279523 promoter 0 + 113278393 113279523 0,128,128 promoter -602 to +528 relative to transcription start site 108281110|GeneID:108281110 21450989|PMID:21450989 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21450989] -602 to +528 relative to transcription start site -chr2 119487056 119491464 enhancer 0 + 119487056 119491464 0,128,128 enhancer VISTA enhancer hs1941 110121228|GeneID:110121228 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[11/13] VISTA enhancer hs1941 | enhancer in: other[11/13] -chr2 121074841 121075741 enhancer 0 + 121074841 121075741 0,128,128 enhancer VISTA enhancer hs522 110120692|GeneID:110120692 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/7] | forebrain[6/7] | other[6/7] VISTA enhancer hs522 | enhancer in: hindbrain (rhombencephalon)[7/7] | forebrain[6/7] | other[6/7] -chr2 121954543 121957677 enhancer 0 + 121954543 121957677 0,128,128 enhancer VISTA enhancer hs2321 110121302|GeneID:110121302,105373592|GeneID:105373592 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/7] VISTA enhancer hs2321 | enhancer in: other[4/7] -chr2 130687740 130688006 retrotransposon:Alusq2 0 + 130687740 130688006 0,0,192 mobile_genetic_element direction; forward 108228197|GeneID:108228197 direction; forward -chr2 130687766 130687779 nucleotide_motif 0 + 130687766 130687779 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108228197|GeneID:108228197 19165926|PMID:19165926,22543972|PMID:22543972 EXISTENCE:motif similarity evidence [ECO:0000028][PMID:22543972, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr2 130687800 130687981 non_allelic_homologous 0 + 130687800 130687981 160,82,45 recombination_feature patient 2 2q21.1 proximal NAHR recombination breakpoint sub-region, recombines with the patient 2 2q21.1 distal NAHR recombination breakpoint sub-region within the LCR2q21.1 distal recombination region, resulting in a deletion 108228197|GeneID:108228197 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] patient 2 2q21.1 proximal NAHR recombination breakpoint sub-region, recombines with the patient 2 2q21.1 distal NAHR recombination breakpoint sub-region within the LCR2q21.1 distal recombination region, resulting in a deletion -chr2 131294429 131294695 retrotransposon:Alusq2 0 + 131294429 131294695 0,0,192 mobile_genetic_element direction; forward 108228198|GeneID:108228198,440910|GeneID:440910 direction; forward -chr2 131294455 131294468 nucleotide_motif 0 + 131294455 131294468 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108228198|GeneID:108228198,440910|GeneID:440910 19165926|PMID:19165926,22543972|PMID:22543972 COORDINATES:motif similarity evidence [ECO:0000028][PMID:22543972, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr2 131294489 131294670 non_allelic_homologous 0 + 131294489 131294670 160,82,45 recombination_feature patient 2 2q21.1 distal NAHR recombination breakpoint sub-region, recombines with the patient 2 2q21.1 proximal NAHR recombination breakpoint sub-region within the LCR2q21.1 proximal recombination region, resulting in a deletion 108228198|GeneID:108228198,440910|GeneID:440910 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] patient 2 2q21.1 distal NAHR recombination breakpoint sub-region, recombines with the patient 2 2q21.1 proximal NAHR recombination breakpoint sub-region within the LCR2q21.1 proximal recombination region, resulting in a deletion -chr2 133435249 133435756 enhancer 0 + 133435249 133435756 0,128,128 enhancer amplified fragment containing the chr2:134193030-134193115 (GRCh37) CAGE region 108281157|GeneID:108281157 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr2:134193030-134193115 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr2 133435458 133435544 CAGE_cluster 0 + 133435458 133435544 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281157|GeneID:108281157 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 143346312 143348075 enhancer 0 + 143346312 143348075 0,128,128 enhancer VISTA enhancer hs675 110120740|GeneID:110120740,55843|GeneID:55843 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[10/12] VISTA enhancer hs675 | enhancer in: forebrain[10/12] -chr2 144430531 144432245 enhancer 0 + 144430531 144432245 0,128,128 enhancer VISTA enhancer hs407 110120671|GeneID:110120671 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/9] | midbrain (mesencephalon)[3/9] | dorsal root ganglion[4/9] VISTA enhancer hs407 | enhancer in: hindbrain (rhombencephalon)[4/9] | midbrain (mesencephalon)[3/9] | dorsal root ganglion[4/9] -chr2 144582034 144583963 enhancer 0 + 144582034 144583963 0,128,128 enhancer VISTA enhancer hs1802 110121209|GeneID:110121209 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/8] VISTA enhancer hs1802 | enhancer in: midbrain (mesencephalon)[8/8] -chr2 145931481 145932531 enhancer 0 + 145931481 145932531 0,128,128 enhancer VISTA enhancer hs649 110120731|GeneID:110120731 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] | forebrain[4/6] | cranial nerve[4/6] VISTA enhancer hs649 | enhancer in: midbrain (mesencephalon)[4/6] | forebrain[4/6] | cranial nerve[4/6] -chr2 145934719 145935715 enhancer 0 + 145934719 145935715 0,128,128 enhancer VISTA enhancer hs568 110120706|GeneID:110120706 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/11] | midbrain (mesencephalon)[7/11] VISTA enhancer hs568 | enhancer in: hindbrain (rhombencephalon)[7/11] | midbrain (mesencephalon)[7/11] -chr2 145952131 145953242 rep_origin: 1.1 kb EcoRI fragment 0 + 145952131 145953242 0,0,0 origin_of_replication 1.1 kb EcoRI fragment; promotes replication of a plasmid 107228318|GeneID:107228318 8107675|PMID:8107675,10653986|PMID:10653986 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:8107675, PMID:10653986] 1.1 kb EcoRI fragment; promotes replication of a plasmid -chr2 145952145 145952597 rep_origin: site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA 0 + 145952145 145952597 0,0,0 origin_of_replication site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA 107228318|GeneID:107228318 9356241|PMID:9356241 EXISTENCE:fractionation evidence [ECO:0000100][PMID:9356241] site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA -chr2 146414435 146416234 enhancer 0 + 146414435 146416234 0,128,128 enhancer VISTA enhancer hs609 110120715|GeneID:110120715 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/18] | limb[9/18] VISTA enhancer hs609 | enhancer in: forebrain[9/18] | limb[9/18] -chr2 150326359 150328958 enhancer 0 + 150326359 150328958 0,128,128 enhancer VISTA enhancer hs1386 110121086|GeneID:110121086,105373684|GeneID:105373684 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/12] | forebrain[12/12] VISTA enhancer hs1386 | enhancer in: neural tube[6/12] | forebrain[12/12] -chr2 151771272 151772273 enhancer 0 + 151771272 151772273 0,128,128 enhancer amplified fragment containing the chr2:152627787-152628787 (GRCh37) CAGE-defined region 108348024|GeneID:108348024 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr2:152627787-152628787 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr2 155546509 155547603 enhancer 0 + 155546509 155547603 0,128,128 enhancer VISTA enhancer hs580 110120710|GeneID:110120710,107985953|GeneID:107985953 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[10/12] VISTA enhancer hs580 | enhancer in: other[10/12] -chr2 155870068 155871093 enhancer 0 + 155870068 155871093 0,128,128 enhancer VISTA enhancer hs411 110120673|GeneID:110120673 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/9] VISTA enhancer hs411 | enhancer in: forebrain[7/9] -chr2 156694501 156695440 enhancer 0 + 156694501 156695440 0,128,128 enhancer VISTA enhancer hs413 110120674|GeneID:110120674 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] VISTA enhancer hs413 | enhancer in: midbrain (mesencephalon)[4/5] -chr2 156864115 156865074 enhancer 0 + 156864115 156865074 0,128,128 enhancer VISTA enhancer hs662 110120736|GeneID:110120736,107985955|GeneID:107985955 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/7] VISTA enhancer hs662 | enhancer in: hindbrain (rhombencephalon)[5/7] -chr2 157004588 157005897 enhancer 0 + 157004588 157005897 0,128,128 enhancer VISTA enhancer hs573 110120708|GeneID:110120708 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] VISTA enhancer hs573 | enhancer in: midbrain (mesencephalon)[4/5] -chr2 157043279 157044209 enhancer 0 + 157043279 157044209 0,128,128 enhancer VISTA enhancer hs415 110120675|GeneID:110120675,105373709|GeneID:105373709 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/10] VISTA enhancer hs415 | enhancer in: limb[6/10] -chr2 158922804 158923829 enhancer 0 + 158922804 158923829 0,128,128 enhancer VISTA enhancer hs1477 110121120|GeneID:110121120 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/6] VISTA enhancer hs1477 | enhancer in: limb[3/6] -chr2 159029475 159032500 enhancer 0 + 159029475 159032500 0,128,128 enhancer VISTA enhancer hs2027 110121242|GeneID:110121242,85461|GeneID:85461 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[11/11] VISTA enhancer hs2027 | enhancer in: heart[11/11] -chr2 160227254 160227790 enhancer 0 + 160227254 160227790 0,128,128 enhancer amplified fragment containing the chr2:161083916-161084239 (GRCh37) CAGE region 108281133|GeneID:108281133 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr2:161083916-161084239 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr2 160227404 160227728 CAGE_cluster 0 + 160227404 160227728 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281133|GeneID:108281133 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 161238383 161238940 enhancer 0 + 161238383 161238940 0,128,128 enhancer VISTA enhancer hs416 110120676|GeneID:110120676 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[10/10] VISTA enhancer hs416 | enhancer in: forebrain[10/10] -chr2 162152134 162153856 promoter 0 + 162152134 162153856 0,128,128 promoter 1.6 kb fragment 108175345|GeneID:108175345,101929532|GeneID:101929532 10516149|PMID:10516149 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10516149] drives expression in stomach, intestine, brain, and mouse intestinal cell line 1.6 kb fragment | drives expression in stomach, intestine, brain, and mouse intestinal cell line -chr2 162152284 162152313 protein_bind: forkhead box A1 0 + 162152284 162152313 192,0,0 protein_binding_site FOXA site A 108175345|GeneID:108175345,101929532|GeneID:101929532 15828872|PMID:15828872 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15828872] positive regulation of transcription FOXA site A | positive regulation of transcription | forkhead box A1 -chr2 162152316 162152353 protein_bind: paired box 6 0 + 162152316 162152353 192,0,0 protein_binding_site G1(H); Pax6 site 108175345|GeneID:108175345,101929532|GeneID:101929532 15828872|PMID:15828872 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15828872] G1(H); Pax6 site | paired box 6 -chr2 162152317 162152355 conserved_region 0 + 162152317 162152355 192,0,192 sequence_feature conserved region; G1 108175345|GeneID:108175345,101929532|GeneID:101929532 3062372|PMID:3062372 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3062372] conserved region; G1 -chr2 162152423 162152460 protein_bind: nuclear factor of activated T-cells 0 + 162152423 162152460 192,0,0 protein_binding_site G2(H); NFAT1B site 108175345|GeneID:108175345,101929532|GeneID:101929532 15828872|PMID:15828872 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15828872] G2(H); NFAT1B site | nuclear factor of activated T-cells -chr2 162152432 162152455 conserved_region 0 + 162152432 162152455 192,0,192 sequence_feature conserved region; G2 108175345|GeneID:108175345,101929532|GeneID:101929532 3062372|PMID:3062372 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3062372] conserved region; G2 -chr2 162152504 162152543 protein_bind: PBX/knotted 1 homeobox 1; PBX homeobox 1 0 + 162152504 162152543 192,0,0 protein_binding_site G3(H); Prep/Pbx site 108175345|GeneID:108175345,101929532|GeneID:101929532 15828872|PMID:15828872 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15828872] G3(H); Prep/Pbx site | PBX/knotted 1 homeobox 1; PBX homeobox 1 -chr2 162152504 162152544 protein_bind: paired box 6 0 + 162152504 162152544 192,0,0 protein_binding_site G3(H); Pax6 site 108175345|GeneID:108175345,101929532|GeneID:101929532 15828872|PMID:15828872 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15828872] G3(H); Pax6 site | paired box 6 -chr2 162152507 162152540 conserved_region 0 + 162152507 162152540 192,0,192 sequence_feature conserved region; G3 108175345|GeneID:108175345,101929532|GeneID:101929532 3062372|PMID:3062372 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:3062372] conserved region; G3 -chr2 162152550 162152577 protein_bind: cAMP responsive element binding protein 1 0 + 162152550 162152577 192,0,0 protein_binding_site CRE(H); CREB-327 site 108175345|GeneID:108175345,101929532|GeneID:101929532 15828872|PMID:15828872 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15828872] CRE(H); CREB-327 site | cAMP responsive element binding protein 1 -chr2 163593633 163595248 enhancer 0 + 163593633 163595248 0,128,128 enhancer VISTA enhancer hs170 110120601|GeneID:110120601 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] VISTA enhancer hs170 | enhancer in: forebrain[5/6] -chr2 163717496 163718948 enhancer 0 + 163717496 163718948 0,128,128 enhancer VISTA enhancer hs640 110120725|GeneID:110120725 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] VISTA enhancer hs640 | enhancer in: hindbrain (rhombencephalon)[5/6] -chr2 163987286 163988273 enhancer 0 + 163987286 163988273 0,128,128 enhancer VISTA enhancer hs421 110120677|GeneID:110120677 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/4] | dorsal root ganglion[3/4] VISTA enhancer hs421 | enhancer in: neural tube[3/4] | dorsal root ganglion[3/4] -chr2 170013096 170014655 enhancer 0 + 170013096 170014655 0,128,128 enhancer VISTA enhancer hs1867 110121216|GeneID:110121216,130507|GeneID:130507 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/8] VISTA enhancer hs1867 | enhancer in: midbrain (mesencephalon)[6/8] -chr2 171963842 171964792 enhancer 0 + 171963842 171964792 0,128,128 enhancer VISTA enhancer hs646 110120730|GeneID:110120730,8520|GeneID:8520 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/5] | forebrain[3/5] VISTA enhancer hs646 | enhancer in: midbrain (mesencephalon)[3/5] | forebrain[3/5] -chr2 172071790 172073521 enhancer 0 + 172071790 172073521 0,128,128 enhancer VISTA enhancer hs553 110120701|GeneID:110120701,254042|GeneID:254042 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/8] | cranial nerve[4/8] VISTA enhancer hs553 | enhancer in: forebrain[7/8] | cranial nerve[4/8] -chr2 172091150 172092324 enhancer 0 + 172091150 172092324 0,128,128 enhancer VISTA enhancer hs422 110120678|GeneID:110120678 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/7] | forebrain[6/7] | nose[6/7] VISTA enhancer hs422 | enhancer in: midbrain (mesencephalon)[7/7] | forebrain[6/7] | nose[6/7] -chr2 173249642 173251205 enhancer 0 + 173249642 173251205 0,128,128 enhancer VISTA enhancer hs242 110120624|GeneID:110120624,51776|GeneID:51776 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/8] | midbrain (mesencephalon)[6/8] | forebrain[6/8] VISTA enhancer hs242 | enhancer in: neural tube[6/8] | midbrain (mesencephalon)[6/8] | forebrain[6/8] -chr2 174120815 174122736 enhancer 0 + 174120815 174122736 0,128,128 enhancer VISTA enhancer hs243 110120625|GeneID:110120625 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[9/10] VISTA enhancer hs243 | enhancer in: limb[9/10] -chr2 174124008 174125635 enhancer 0 + 174124008 174125635 0,128,128 enhancer VISTA enhancer hs244 110120626|GeneID:110120626 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[11/14] VISTA enhancer hs244 | enhancer in: forebrain[11/14] -chr2 174331314 174332386 enhancer 0 + 174331314 174332386 0,128,128 enhancer VISTA enhancer hs860 110120790|GeneID:110120790 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/9] VISTA enhancer hs860 | enhancer in: forebrain[5/9] -chr2 174338534 174340167 enhancer 0 + 174338534 174340167 0,128,128 enhancer VISTA enhancer hs953 110120809|GeneID:110120809 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[13/13] | hindbrain (rhombencephalon)[11/13] | forebrain[10/13] VISTA enhancer hs953 | enhancer in: neural tube[13/13] | hindbrain (rhombencephalon)[11/13] | forebrain[10/13] -chr2 176075341 176076682 enhancer 0 + 176075341 176076682 0,128,128 enhancer VISTA enhancer hs246 110120627|GeneID:110120627 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/6] VISTA enhancer hs246 | enhancer in: hindbrain (rhombencephalon)[6/6] -chr2 176084884 176084994 mitotic 0 + 176084884 176084994 160,82,45 recombination_feature NUP98-HOXD13 recombination region recombines with the NUP98 intron 12 (HOXD13) recombination sub-region of the nucleoporin 98kDa recombination region 107126359|GeneID:107126359 10995009|PMID:10995009 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10995009] NUP98-HOXD13 recombination region recombines with the NUP98 intron 12 (HOXD13) recombination sub-region of the nucleoporin 98kDa recombination region -chr2 176638428 176638943 enhancer 0 + 176638428 176638943 0,128,128 enhancer VISTA enhancer hs248 110120628|GeneID:110120628,102724224|GeneID:102724224 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[7/8] VISTA enhancer hs248 | enhancer in: nose[7/8] -chr2 181876535 181877122 enhancer 0 + 181876535 181877122 0,128,128 enhancer amplified fragment containing the chr2:182741385-182741846 (GRCh37) CAGE region 108281145|GeneID:108281145 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr2:182741385-182741846 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr2 181876657 181877119 CAGE_cluster 0 + 181876657 181877119 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281145|GeneID:108281145 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 197847269 197848582 enhancer 0 + 197847269 197848582 0,128,128 enhancer amplified fragment containing the chr2:198711994-198713304 (GRCh37) CAGE-defined region 108353821|GeneID:108353821,5334|GeneID:5334 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in T cells amplified fragment containing the chr2:198711994-198713304 (GRCh37) CAGE-defined region | transcribed enhancer in T cells -chr2 200787308 200787825 enhancer 0 + 200787308 200787825 0,128,128 enhancer amplified fragment containing the chr2:201652202-201652395 (GRCh37) CAGE region 108281167|GeneID:108281167,344454|GeneID:344454 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr2:201652202-201652395 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr2 200787478 200787672 CAGE_cluster 0 + 200787478 200787672 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281167|GeneID:108281167,344454|GeneID:344454 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 210548855 210549351 enhancer 0 + 210548855 210549351 0,128,128 enhancer amplified fragment containing the chr2:211413660-211414008 (GRCh37) CAGE region 108254675|GeneID:108254675,1373|GeneID:1373 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HepG2 cells amplified fragment containing the chr2:211413660-211414008 (GRCh37) CAGE region | high expression transcribed enhancer in HepG2 cells -chr2 210548935 210549284 CAGE_cluster 0 + 210548935 210549284 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254675|GeneID:108254675,1373|GeneID:1373 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 210559188 210559782 enhancer 0 + 210559188 210559782 0,128,128 enhancer amplified fragment containing the FANTOM5 chr2:211423993-211424366 (GRCh37) CAGE region 108178994|GeneID:108178994,1373|GeneID:1373 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the FANTOM5 chr2:211423993-211424366 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr2 210559268 210559642 CAGE_cluster 0 + 210559268 210559642 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108178994|GeneID:108178994,1373|GeneID:1373 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr2 211390114 211392433 enhancer 0 + 211390114 211392433 0,128,128 enhancer VISTA enhancer hs1578 110121148|GeneID:110121148 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | forebrain[4/5] VISTA enhancer hs1578 | enhancer in: hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | forebrain[4/5] -chr2 217936447 217938840 enhancer 0 + 217936447 217938840 0,128,128 enhancer VISTA enhancer hs1764 110121204|GeneID:110121204 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[7/9] | heart[7/9] | other[7/9] VISTA enhancer hs1764 | enhancer in: branchial arch[7/9] | heart[7/9] | other[7/9] -chr2 219399708 219418413 locus_control_region 0 + 219399708 219418413 0,128,128 locus_control_region 18.6DESbeta transgene fragment 106866982|GeneID:106866982 16545539|PMID:16545539 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16545539] 18.6DESbeta transgene fragment -chr2 219400406 219401017 DNase_I_hypersensitive_site 0 + 219400406 219401017 0,128,128 region HS5; the nucleotide coordinates are approximate for this feature 106866982|GeneID:106866982,105373884|GeneID:105373884 16545539|PMID:16545539 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:16545539] HS5; the nucleotide coordinates are approximate for this feature -chr2 219402365 219403748 DNase_I_hypersensitive_site 0 + 219402365 219403748 0,128,128 region HS4; the nucleotide coordinates are approximate for this feature 106866982|GeneID:106866982 16545539|PMID:16545539 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:16545539] HS4; the nucleotide coordinates are approximate for this feature -chr2 219404427 219405001 DNase_I_hypersensitive_site 0 + 219404427 219405001 0,128,128 region HS3i; the nucleotide coordinates are approximate for this feature 106866982|GeneID:106866982 16545539|PMID:16545539 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:16545539] HS3i; the nucleotide coordinates are approximate for this feature -chr2 219405051 219405766 DNase_I_hypersensitive_site 0 + 219405051 219405766 0,128,128 region HS3ii; the nucleotide coordinates are approximate for this feature 106866982|GeneID:106866982 16545539|PMID:16545539 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:16545539] HS3ii; the nucleotide coordinates are approximate for this feature -chr2 219406812 219407407 DNase_I_hypersensitive_site 0 + 219406812 219407407 0,128,128 region HS2; the nucleotide coordinates are approximate for this feature 106866982|GeneID:106866982 16545539|PMID:16545539 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:16545539] HS2; the nucleotide coordinates are approximate for this feature -chr2 219408207 219408962 DNase_I_hypersensitive_site 0 + 219408207 219408962 0,128,128 region HS1; the nucleotide coordinates are approximate for this feature 106866982|GeneID:106866982 16545539|PMID:16545539 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:16545539] HS1; the nucleotide coordinates are approximate for this feature -chr2 219417395 219417514 enhancer 0 + 219417395 219417514 0,128,128 enhancer KpnI-HincII -973 to -848 fragment 106866982|GeneID:106866982 8186686|PMID:8186686,8387519|PMID:8387519 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8387519, PMID:8186686] enhancer in myotubes KpnI-HincII -973 to -848 fragment | enhancer in myotubes -chr2 219417395 219417671 enhancer 0 + 219417395 219417671 0,128,128 enhancer KpnI-HindIII -973 to -693 fragment 106866982|GeneID:106866982 2007603|PMID:2007603,8186686|PMID:8186686,8387519|PMID:8387519 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2007603, PMID:8387519, PMID:8186686] enhancer in myotubes and myoblasts KpnI-HindIII -973 to -693 fragment | enhancer in myotubes and myoblasts -chr2 219417395 219418452 transcriptional_cis_regulatory_region 0 + 219417395 219418452 0,128,128 region 1 kb region from Des1-nlacZ transgene; includes the -973 to -693 enhancer, the -693 to -228 silencer, and -228 to +75 DES promoter 106866982|GeneID:106866982 8186686|PMID:8186686,8325245|PMID:8325245 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8186686, PMID:8325245] drives developmental expression in skeletal but not cardiac muscle 1 kb region from Des1-nlacZ transgene; includes the -973 to -693 enhancer, the -693 to -228 silencer, and -228 to +75 DES promoter | drives developmental expression in skeletal but not cardiac muscle -chr2 219417441 219417470 protein_bind: myocyte enhancer factor 2A 0 + 219417441 219417470 192,0,0 protein_binding_site Oligo 4 MEF2(des)-binding site 106866982|GeneID:106866982 8387519|PMID:8387519 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8387519] required for full enhancer activity in myotubes Oligo 4 MEF2(des)-binding site | required for full enhancer activity in myotubes | myocyte enhancer factor 2A -chr2 219417468 219417475 transcriptional_cis_regulatory_region 0 + 219417468 219417475 0,128,128 region Mt (GGTATTT) site 106866982|GeneID:106866982 9497371|PMID:9497371 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9497371] required for full enhancer activity in skeletal muscle Mt (GGTATTT) site | required for full enhancer activity in skeletal muscle -chr2 219417474 219417498 protein_bind: myogenic differentiation 1 0 + 219417474 219417498 192,0,0 protein_binding_site Oligo 1 MyoD1(des)-binding site (PMID:8387519) 106866982|GeneID:106866982 8387519|PMID:8387519,20412780|PMID:20412780 EXISTENCE:chromatin immunoprecipitation evidence [ECO:0000226][PMID:20412780] required for full enhancer activity in myotubes and for MyoD1 or myogenin transactivation in fibroblasts Oligo 1 MyoD1(des)-binding site (PMID:8387519) | required for full enhancer activity in myotubes and for MyoD1 or myogenin transactivation in fibroblasts | myogenic differentiation 1 -chr2 219417514 219417671 enhancer 0 + 219417514 219417671 0,128,128 enhancer HincII-HindIII -849 to -693 fragment 106866982|GeneID:106866982 8186686|PMID:8186686,8387519|PMID:8387519 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8387519, PMID:8186686] enhancer in myoblasts HincII-HindIII -849 to -693 fragment | enhancer in myoblasts -chr2 219417546 219417568 protein_bind: early growth response 1 or 2 0 + 219417546 219417568 192,0,0 protein_binding_site Oligo 6 K1 Krox20/24-binding site 106866982|GeneID:106866982 8387519|PMID:8387519 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8387519] required for full enhancer activity in myoblasts Oligo 6 K1 Krox20/24-binding site | required for full enhancer activity in myoblasts | early growth response 1 or 2 -chr2 219417576 219417603 protein_bind: early growth response 1 or 2 and Sp1 transcription factor 0 + 219417576 219417603 192,0,0 protein_binding_site footprint 3 Krox20/24- and Sp1-binding sites 106866982|GeneID:106866982 8387519|PMID:8387519 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8387519] required for full enhancer activity in myoblasts footprint 3 Krox20/24- and Sp1-binding sites | required for full enhancer activity in myoblasts | early growth response 1 or 2 and Sp1 transcription factor -chr2 219417628 219417649 protein_bind: early growth response 1 or 2 0 + 219417628 219417649 192,0,0 protein_binding_site Oligo 8 K3 Krox20/24-binding site 106866982|GeneID:106866982 8387519|PMID:8387519 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8387519] required for full enhancer activity in myoblasts Oligo 8 K3 Krox20/24-binding site | required for full enhancer activity in myoblasts | early growth response 1 or 2 -chr2 219417671 219418147 silencer 0 + 219417671 219418147 0,128,128 silencer HindIII-PstI -693 to -228 fragment 106866982|GeneID:106866982 2007603|PMID:2007603 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2007603] negatively regulates the DES promoter HindIII-PstI -693 to -228 fragment | negatively regulates the DES promoter -chr2 219418147 219418452 promoter 0 + 219418147 219418452 0,128,128 promoter -228 (PstI site) to +75 promoter fragment 106866982|GeneID:106866982 2007603|PMID:2007603 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:2007603] promoter for DES gene -228 (PstI site) to +75 promoter fragment | promoter for DES gene -chr2 219429149 219432239 enhancer 0 + 219429149 219432239 0,128,128 enhancer VISTA enhancer hs2169 110121267|GeneID:110121267 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/8] VISTA enhancer hs2169 | enhancer in: heart[3/8] -chr2 219849146 219852579 enhancer 0 + 219849146 219852579 0,128,128 enhancer VISTA enhancer hs1507 110121128|GeneID:110121128 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs1507 | enhancer in: limb[3/5] -chr2 219906363 219908558 enhancer 0 + 219906363 219908558 0,128,128 enhancer VISTA enhancer hs1635 110121169|GeneID:110121169,105373890|GeneID:105373890 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/5] | facial mesenchyme[5/5] VISTA enhancer hs1635 | enhancer in: limb[5/5] | facial mesenchyme[5/5] -chr2 222298597 222299629 promoter 0 + 222298597 222299629 0,128,128 promoter StyI/NaeI fragment for -650 to +379 promoter 107980445|GeneID:107980445,151278|GeneID:151278 10191090|PMID:10191090 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10191090] StyI/NaeI fragment for -650 to +379 promoter -chr2 222299015 222299053 transcriptional_cis_regulatory_region 0 + 222299015 222299053 0,128,128 region SBE site; -60 to -51 107980445|GeneID:107980445,151278|GeneID:151278 21997191|PMID:21997191 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21997191] mediates Stat3 induction of transcription SBE site; -60 to -51 | mediates Stat3 induction of transcription -chr2 222299018 222299026 TATA_box 0 + 222299018 222299026 0,128,128 TATA_box 107980445|GeneID:107980445,151278|GeneID:151278 10191090|PMID:10191090 COORDINATES:motif similarity evidence [ECO:0000028][PMID:10191090] TATA_box -chr2 222299623 222300178 transcriptional_cis_regulatory_region 0 + 222299623 222300178 0,128,128 region StyI/XhoI fragment 107980445|GeneID:107980445,151278|GeneID:151278 10191090|PMID:10191090 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10191090] negative regulation of expression StyI/XhoI fragment | negative regulation of expression -chr2 222299894 222300070 conserved_region 0 + 222299894 222300070 192,0,192 sequence_feature conserved region; NCE2 107980445|GeneID:107980445,151278|GeneID:151278 26252164|PMID:26252164 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:26252164] conserved region; NCE2 -chr2 222300222 222300448 conserved_region 0 + 222300222 222300448 192,0,192 sequence_feature conserved region; NCE1 107980445|GeneID:107980445,151278|GeneID:151278 26252164|PMID:26252164 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:26252164] conserved region; NCE1 -chr2 229330627 229331708 enhancer 0 + 229330627 229331708 0,128,128 enhancer amplified fragment containing the chr2:230195344-230196424 (GRCh37) CAGE-defined region 108353814|GeneID:108353814 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in monocytes amplified fragment containing the chr2:230195344-230196424 (GRCh37) CAGE-defined region | transcribed enhancer in monocytes -chr2 229408023 229409044 enhancer 0 + 229408023 229409044 0,128,128 enhancer amplified fragment containing the chr2:230272729-230273771 (GRCh37) CAGE-defined region 108353815|GeneID:108353815 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in monocytes amplified fragment containing the chr2:230272729-230273771 (GRCh37) CAGE-defined region | transcribed enhancer in monocytes -chr2 231662544 231667398 enhancer 0 + 231662544 231667398 0,128,128 enhancer VISTA enhancer hs1886 108348027|GeneID:108348027 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/8] VISTA enhancer hs1886 | enhancer in: heart[5/8] -chr2 231665890 231667098 enhancer 0 + 231665890 231667098 0,128,128 enhancer amplified fragment containing the chr2:232530602-232531809 (GRCh37) CAGE-defined region 108348027|GeneID:108348027 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in monocytes amplified fragment containing the chr2:232530602-232531809 (GRCh37) CAGE-defined region | transcribed enhancer in monocytes -chr2 231672135 231673248 enhancer 0 + 231672135 231673248 0,128,128 enhancer amplified fragment containing the chr2:232536847-232537960 (GRCh37) CAGE-defined region 108348027|GeneID:108348027 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr2:232536847-232537960 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr2 235864813 235866052 enhancer 0 + 235864813 235866052 0,128,128 enhancer VISTA enhancer hs521 110120691|GeneID:110120691,116987|GeneID:116987 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/6] | branchial arch[6/6] | eye[4/6] | ear[6/6] VISTA enhancer hs521 | enhancer in: limb[6/6] | branchial arch[6/6] | eye[4/6] | ear[6/6] -chr2 236053954 236056213 enhancer 0 + 236053954 236056213 0,128,128 enhancer VISTA enhancer hs921 110120803|GeneID:110120803,116987|GeneID:116987 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] | limb[4/7] | branchial arch[5/7] VISTA enhancer hs921 | enhancer in: forebrain[6/7] | limb[4/7] | branchial arch[5/7] -chr2 236162719 236163204 enhancer 0 + 236162719 236163204 0,128,128 enhancer VISTA enhancer hs249 110120629|GeneID:110120629 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] VISTA enhancer hs249 | enhancer in: neural tube[7/8] -chr2 237313176 237316630 enhancer 0 + 237313176 237316630 0,128,128 enhancer VISTA enhancer hs1951 110121230|GeneID:110121230 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[9/11] | heart[11/11] VISTA enhancer hs1951 | enhancer in: somite[9/11] | heart[11/11] -chr2 237613735 237617924 enhancer 0 + 237613735 237617924 0,128,128 enhancer VISTA enhancer hs1945 110121229|GeneID:110121229 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/9] VISTA enhancer hs1945 | enhancer in: heart[4/9] -chr2 237894725 237898955 enhancer 0 + 237894725 237898955 0,128,128 enhancer VISTA enhancer hs1968 110121236|GeneID:110121236,10267|GeneID:10267 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[3/5] VISTA enhancer hs1968 | enhancer in: dorsal root ganglion[3/5] -chr2 240257939 240260738 enhancer 0 + 240257939 240260738 0,128,128 enhancer VISTA enhancer hs1750 110121201|GeneID:110121201 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/7] VISTA enhancer hs1750 | enhancer in: heart[7/7] -chr2 240368561 240373577 enhancer 0 + 240368561 240373577 0,128,128 enhancer VISTA enhancer hs1937 110121227|GeneID:110121227 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/9] | dorsal root ganglion[9/9] | limb[8/9] | branchial arch[7/9] | heart[8/9] | other[8/9] | ear[7/9] VISTA enhancer hs1937 | enhancer in: hindbrain (rhombencephalon)[6/9] | dorsal root ganglion[9/9] | limb[8/9] | branchial arch[7/9] | heart[8/9] | other[8/9] | ear[7/9] -chr2 240560941 240561083 enhancer 0 + 240560941 240561083 0,128,128 enhancer 106783501|GeneID:106783501,285193|GeneID:285193 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr20 2652732 2652775 tandem 0 + 2652732 2652775 0,0,192 repeat_region 109504727|GeneID:109504727,10528|GeneID:10528 repeat_region -chr20 2652733 2652757 repeat_instability_region 0 + 2652733 2652757 192,0,192 sequence_feature repeat instability region; expansion of the (GGCCTG)n hexanucleotide repeat is associated with spinocerebellar ataxia type 36 (SCA36) 109504727|GeneID:109504727,10528|GeneID:10528 21683323|PMID:21683323,25476002|PMID:25476002 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:21683323, PMID:25476002] repeat instability region; expansion of the (GGCCTG)n hexanucleotide repeat is associated with spinocerebellar ataxia type 36 (SCA36) -chr20 2738561 2739143 enhancer 0 + 2738561 2739143 0,128,128 enhancer VISTA enhancer hs632 110120914|GeneID:110120914,57593|GeneID:57593 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/9] | hindbrain (rhombencephalon)[5/9] | midbrain (mesencephalon)[5/9] | forebrain[5/9] VISTA enhancer hs632 | enhancer in: neural tube[5/9] | hindbrain (rhombencephalon)[5/9] | midbrain (mesencephalon)[5/9] | forebrain[5/9] -chr20 3811456 3812516 enhancer 0 + 3811456 3812516 0,128,128 enhancer 106799846|GeneID:106799846 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr20 5231828 5235507 meiotic 0 + 5231828 5235507 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population. Increased recombination rates are also observed in the HapMap CEU population, but over a very broad sequence range. 107457602|GeneID:107457602 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population. Increased recombination rates are also observed in the HapMap CEU population, but over a very broad sequence range. -chr20 5231916 5235035 meiotic 0 + 5231916 5235035 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457602|GeneID:107457602 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr20 5232134 5234034 meiotic 0 + 5232134 5234034 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457602|GeneID:107457602 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr20 6763861 6768740 promoter 0 + 6763861 6768740 0,128,128 promoter SacI/SmaI fragment for 4.9 kb promoter 109363676|GeneID:109363676 10024520|PMID:10024520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10024520] SacI/SmaI fragment for 4.9 kb promoter -chr20 6765638 6765659 protein_bind: runt related transcription factor 2 0 + 6765638 6765659 192,0,0 protein_binding_site CBE; Cbfa1 binding element 109363676|GeneID:109363676 11054542|PMID:11054542 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11054542] CBE; Cbfa1 binding element | runt related transcription factor 2 -chr20 6766653 6767444 transcriptional_cis_regulatory_region 0 + 6766653 6767444 0,128,128 region MscI/PvuII fragment 109363676|GeneID:109363676 10024520|PMID:10024520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10024520] negative regulation of promoter activity MscI/PvuII fragment | negative regulation of promoter activity -chr20 6767450 6767550 transcriptional_cis_regulatory_region 0 + 6767450 6767550 0,128,128 region -246 to -147 109363676|GeneID:109363676 20060812|PMID:20060812 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20060812] negative regulation of promoter activity -246 to -147 | negative regulation of promoter activity -chr20 6767549 6768191 promoter 0 + 6767549 6768191 0,128,128 promoter construct E; -147 to +494 109363676|GeneID:109363676 20060812|PMID:20060812 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20060812] construct E; -147 to +494 -chr20 6767580 6768740 promoter 0 + 6767580 6768740 0,128,128 promoter BamHI/SmaI fragment for -1143 promoter 109363676|GeneID:109363676 10024520|PMID:10024520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10024520] BamHI/SmaI fragment for -1143 promoter -chr20 6768190 6768365 transcriptional_cis_regulatory_region 0 + 6768190 6768365 0,128,128 region +494 to +675 109363676|GeneID:109363676,650|GeneID:650 20060812|PMID:20060812 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20060812] negative regulation of promoter activity; may block response to an enhancer +494 to +675 | negative regulation of promoter activity; may block response to an enhancer -chr20 8108866 8114868 non-LTR retrotransposon:L1PA3 0 + 8108866 8114868 0,0,192 mobile_genetic_element direction; reverse 108178991|GeneID:108178991 direction; reverse -chr20 8113863 8113904 non_allelic_homologous 0 + 8113863 8113904 160,82,45 recombination_feature duplication patient 2 20p12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a duplication 108178991|GeneID:108178991 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2 20p12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a duplication -chr20 8113918 8113982 non_allelic_homologous 0 + 8113918 8113982 160,82,45 recombination_feature deletion patients 2 and 3 20p12 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 2 and 3 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a deletion 108178991|GeneID:108178991 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 2 and 3 20p12 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 2 and 3 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a deletion -chr20 8113997 8114078 non_allelic_homologous 0 + 8113997 8114078 160,82,45 recombination_feature duplication patients 3-5 20p12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-5 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a duplication 108178991|GeneID:108178991 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patients 3-5 20p12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-5 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a duplication -chr20 8114156 8114247 non_allelic_homologous 0 + 8114156 8114247 160,82,45 recombination_feature deletion patients 1 and 4 20p12 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1 and 4 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a deletion 108178991|GeneID:108178991 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1 and 4 20p12 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1 and 4 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a deletion -chr20 8114416 8114418 non_allelic_homologous 0 + 8114416 8114418 160,82,45 recombination_feature duplication patient 1 20p12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a duplication 108178991|GeneID:108178991 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 1 20p12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 20p12 proximal NAHR recombination breakpoint sub-region within the 20p12 proximal LINE-mediated recombination region, resulting in a duplication -chr20 8595101 8601127 non-LTR retrotransposon:L1PA2 0 + 8595101 8601127 0,0,192 mobile_genetic_element direction; reverse 108178992|GeneID:108178992,23236|GeneID:23236 direction; reverse -chr20 8600075 8600117 non_allelic_homologous 0 + 8600075 8600117 160,82,45 recombination_feature duplication patient 2 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a duplication 108178992|GeneID:108178992,23236|GeneID:23236 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a duplication -chr20 8600130 8600194 non_allelic_homologous 0 + 8600130 8600194 160,82,45 recombination_feature deletion patients 2 and 3 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 2 and 3 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a deletion 108178992|GeneID:108178992,23236|GeneID:23236 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 2 and 3 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 2 and 3 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a deletion -chr20 8600209 8600290 non_allelic_homologous 0 + 8600209 8600290 160,82,45 recombination_feature duplication patients 3-5 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-5 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a duplication 108178992|GeneID:108178992,23236|GeneID:23236 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patients 3-5 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patients 3-5 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a duplication -chr20 8600364 8600455 non_allelic_homologous 0 + 8600364 8600455 160,82,45 recombination_feature deletion patients 1 and 4 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1 and 4 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a deletion 108178992|GeneID:108178992,23236|GeneID:23236 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1 and 4 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1 and 4 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a deletion -chr20 8600624 8600626 non_allelic_homologous 0 + 8600624 8600626 160,82,45 recombination_feature duplication patient 1 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a duplication 108178992|GeneID:108178992,23236|GeneID:23236 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 1 20p12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 1 20p12 distal NAHR recombination breakpoint sub-region within the 20p12 distal LINE-mediated recombination region, resulting in a duplication -chr20 10812534 10813791 enhancer 0 + 10812534 10813791 0,128,128 enhancer VISTA enhancer hs1278 110121338|GeneID:110121338 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[9/11] | nose[7/11] VISTA enhancer hs1278 | enhancer in: limb[9/11] | nose[7/11] -chr20 20492308 20493556 enhancer 0 + 20492308 20493556 0,128,128 enhancer VISTA enhancer hs688 110120921|GeneID:110120921 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] VISTA enhancer hs688 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] -chr20 21234151 21236594 enhancer 0 + 21234151 21236594 0,128,128 enhancer VISTA enhancer hs914 110120949|GeneID:110120949,55857|GeneID:55857 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/10] VISTA enhancer hs914 | enhancer in: forebrain[9/10] -chr20 21507912 21509383 enhancer 0 + 21507912 21509383 0,128,128 enhancer VISTA enhancer hs1205 110121332|GeneID:110121332 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[4/8] VISTA enhancer hs1205 | enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[4/8] -chr20 21977961 21979370 enhancer 0 + 21977961 21979370 0,128,128 enhancer Xe1 108228200|GeneID:108228200 25784220|PMID:25784220 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:25784220] enhancer in somite Xe1 | enhancer in somite -chr20 21981204 21982804 enhancer 0 + 21981204 21982804 0,128,128 enhancer PEC7 108228202|GeneID:108228202 25784220|PMID:25784220 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:25784220] enhancer in somitic muscle, spinal cord, and heart PEC7 | enhancer in somitic muscle, spinal cord, and heart -chr20 31603912 31604751 enhancer 0 + 31603912 31604751 0,128,128 enhancer VISTA enhancer hs480 110120877|GeneID:110120877 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | forebrain[8/8] | eye[8/8] VISTA enhancer hs480 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | forebrain[8/8] | eye[8/8] -chr20 31673734 31677079 enhancer 0 + 31673734 31677079 0,128,128 enhancer VISTA enhancer hs2050 110121477|GeneID:110121477 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[5/5] VISTA enhancer hs2050 | enhancer in: blood vessels[5/5] -chr20 32524530 32529311 enhancer 0 + 32524530 32529311 0,128,128 enhancer VISTA enhancer hs2225 110121497|GeneID:110121497 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] | dorsal root ganglion[7/9] | forebrain[7/9] | trigeminal V (ganglion, cranial)[7/9] VISTA enhancer hs2225 | enhancer in: hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] | dorsal root ganglion[7/9] | forebrain[7/9] | trigeminal V (ganglion, cranial)[7/9] -chr20 32976111 32981064 enhancer 0 + 32976111 32981064 0,128,128 enhancer VISTA enhancer hs2101 110121484|GeneID:110121484 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | dorsal root ganglion[4/5] | forebrain[4/5] | eye[4/5] | trigeminal V (ganglion, cranial)[5/5] | cranial nerve[4/5] | facial mesenchyme[4/5] VISTA enhancer hs2101 | enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | dorsal root ganglion[4/5] | forebrain[4/5] | eye[4/5] | trigeminal V (ganglion, cranial)[5/5] | cranial nerve[4/5] | facial mesenchyme[4/5] -chr20 33421817 33425379 enhancer 0 + 33421817 33425379 0,128,128 enhancer VISTA enhancer hs2173 110121494|GeneID:110121494 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/6] VISTA enhancer hs2173 | enhancer in: heart[4/6] -chr20 35437928 35438683 promoter 0 + 35437928 35438683 0,128,128 promoter -448 to +319 promoter fragment 109461476|GeneID:109461476 23356643|PMID:23356643 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23356643] -448 to +319 promoter fragment -chr20 35437990 35438039 protein_bind: SRY-box 11 0 + 35437990 35438039 192,0,0 protein_binding_site segment A probe containing Sox sites 109461476|GeneID:109461476 23356643|PMID:23356643 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23356643] positive regulation of promoter activity segment A probe containing Sox sites | positive regulation of promoter activity | SRY-box 11 -chr20 35438147 35438401 promoter 0 + 35438147 35438401 0,128,128 promoter -115 core promoter; StuI/ApaL1 fragment 109461476|GeneID:109461476 10512744|PMID:10512744 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10512744] -115 core promoter; StuI/ApaL1 fragment -chr20 35438192 35438218 protein_bind: DEAF1, transcription factor 0 + 35438192 35438218 192,0,0 protein_binding_site rs143383 probe 109461476|GeneID:109461476 23825960|PMID:23825960 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23825960] rs143383 probe | DEAF1, transcription factor -chr20 35438192 35438218 protein_bind: SUB1 homolog, transcriptional regulator 0 + 35438192 35438218 192,0,0 protein_binding_site rs143383 probe 109461476|GeneID:109461476 23825960|PMID:23825960 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23825960] rs143383 probe | SUB1 homolog, transcriptional regulator -chr20 35438192 35438218 protein_bind: Sp1/Sp3 transcription factors 0 + 35438192 35438218 192,0,0 protein_binding_site rs143383 probe 109461476|GeneID:109461476 23825960|PMID:23825960 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23825960] rs143383 probe | Sp1/Sp3 transcription factors -chr20 35438272 35438297 protein_bind: YY1 transcription factor 0 + 35438272 35438297 192,0,0 protein_binding_site Inr; -41 bp C-allele probe 109461476|GeneID:109461476 10512744|PMID:10512744,22929025|PMID:22929025 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10512744, PMID:22929025] Inr; -41 bp C-allele probe | YY1 transcription factor -chr20 35875428 35875988 enhancer 0 + 35875428 35875988 0,128,128 enhancer amplified fragment containing the chr20:34463368-34463773 (GRCh37) CAGE region 108254667|GeneID:108254667,51230|GeneID:51230 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr20:34463368-34463773 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr20 35875445 35875851 CAGE_cluster 0 + 35875445 35875851 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254667|GeneID:108254667,51230|GeneID:51230 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr20 39248170 39248957 enhancer 0 + 39248170 39248957 0,128,128 enhancer VISTA enhancer hs1042 110121317|GeneID:110121317 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] VISTA enhancer hs1042 | enhancer in: neural tube[5/7] -chr20 40705541 40706419 enhancer 0 + 40705541 40706419 0,128,128 enhancer VISTA enhancer hs1086 110121321|GeneID:110121321 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/8] VISTA enhancer hs1086 | enhancer in: hindbrain (rhombencephalon)[5/8] -chr20 41028557 41028852 rep_origin: Prom amplicon 0 + 41028557 41028852 0,0,0 origin_of_replication Prom amplicon; peak of nascent strand synthesis detected by quantitative PCR of size-fractioned DNA 107080552|GeneID:107080552 12004060|PMID:12004060 EXISTENCE:fractionation evidence [ECO:0000100][PMID:12004060] Prom amplicon; peak of nascent strand synthesis detected by quantitative PCR of size-fractioned DNA -chr20 41082684 41084304 mitotic 0 + 41082684 41084304 160,82,45 recombination_feature NUP98-TOP1 recombination region recombines with the NUP98 intron 13 (TOP1) recombination sub-region of the nucleoporin 98kDa recombination region 106992256|GeneID:106992256,7150|GeneID:7150 10959088|PMID:10959088,11979559|PMID:11979559,12874791|PMID:12874791 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12874791, PMID:10959088, PMID:11979559] NUP98-TOP1 recombination region recombines with the NUP98 intron 13 (TOP1) recombination sub-region of the nucleoporin 98kDa recombination region -chr20 44153317 44154567 enhancer 0 + 44153317 44154567 0,128,128 enhancer amplified fragment containing the chr20:42781958-42783206 (GRCh37) CAGE-defined region 108353820|GeneID:108353820 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in T cells amplified fragment containing the chr20:42781958-42783206 (GRCh37) CAGE-defined region | transcribed enhancer in T cells -chr20 44629003 44642001 DNase_I_hypersensitive_site 0 + 44629003 44642001 0,128,128 region duodenal hypersensitive region containing HS-A, HS-B, HS-C, HS-D, HS-E, HS-F and HS-G; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 9334245|PMID:9334245 DESCRIPTION:in vivo cleavage assay evidence [ECO:0001075][PMID:9334245] duodenal hypersensitive region containing HS-A, HS-B, HS-C, HS-D, HS-E, HS-F and HS-G; the nucleotide coordinates are approximate for this feature -chr20 44629003 44642001 enhancer 0 + 44629003 44642001 0,128,128 enhancer fragment c 107303343|GeneID:107303343 9334245|PMID:9334245,11053006|PMID:11053006 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9334245, PMID:11053006] enhancer of ADA expression in duodenum fragment c | enhancer of ADA expression in duodenum -chr20 44633257 44636674 enhancer 0 + 44633257 44636674 0,128,128 enhancer fragment g 107303343|GeneID:107303343 9334245|PMID:9334245,11053006|PMID:11053006 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:9334245, PMID:11053006] enhancer of ADA expression in duodenum fragment g | enhancer of ADA expression in duodenum -chr20 44634138 44634444 DNase_I_hypersensitive_site 0 + 44634138 44634444 0,128,128 region HS-D; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 11053006|PMID:11053006 COORDINATES:manual assertion [ECO:0000218][PMID:11053006] HS-D; the nucleotide coordinates are approximate for this feature -chr20 44634148 44634178 protein_bind: pancreatic and duodenal homeobox 1 0 + 44634148 44634178 192,0,0 protein_binding_site FP 5 PDX-1-binding site 107303343|GeneID:107303343 11278481|PMID:11278481 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11278481] required for duodenal enhancer activity FP 5 PDX-1-binding site | required for duodenal enhancer activity | pancreatic and duodenal homeobox 1 -chr20 44634148 44634478 enhancer 0 + 44634148 44634478 0,128,128 enhancer 0.3 kb core duodenal enhancer region 107303343|GeneID:107303343 11278481|PMID:11278481 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11278481] enhancer of ADA expression in duodenum 0.3 kb core duodenal enhancer region | enhancer of ADA expression in duodenum -chr20 44634202 44634228 protein_bind: pancreatic and duodenal homeobox 1 0 + 44634202 44634228 192,0,0 protein_binding_site FP 4 PDX-1-binding site 107303343|GeneID:107303343 11278481|PMID:11278481 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11278481] required for duodenal enhancer activity FP 4 PDX-1-binding site | required for duodenal enhancer activity | pancreatic and duodenal homeobox 1 -chr20 44634226 44634265 protein_bind: YY1 transcription factor 0 + 44634226 44634265 192,0,0 protein_binding_site Y2/NFI YY1-binding site 107303343|GeneID:107303343 15677472|PMID:15677472 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15677472] developmental timing of duodenal enhancer activation Y2/NFI YY1-binding site | developmental timing of duodenal enhancer activation | YY1 transcription factor -chr20 44634226 44634265 protein_bind: nuclear factor I/C (CCAAT-binding transcription factor) 0 + 44634226 44634265 192,0,0 protein_binding_site Y2/NFI NFI-binding site 107303343|GeneID:107303343 15677472|PMID:15677472 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15677472] Y2/NFI NFI-binding site | nuclear factor I/C (CCAAT-binding transcription factor) -chr20 44634254 44634293 protein_bind: GATA binding protein 4 0 + 44634254 44634293 192,0,0 protein_binding_site G3 GATA-4-binding site 107303343|GeneID:107303343 12571085|PMID:12571085 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12571085] required for high-level duodenal enhancer activation G3 GATA-4-binding site | required for high-level duodenal enhancer activation | GATA binding protein 4 -chr20 44634303 44634325 protein_bind: pancreatic and duodenal homeobox 1 0 + 44634303 44634325 192,0,0 protein_binding_site FP 2d PDX-1-binding site 107303343|GeneID:107303343 11278481|PMID:11278481 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11278481] required for duodenal enhancer activity FP 2d PDX-1-binding site | required for duodenal enhancer activity | pancreatic and duodenal homeobox 1 -chr20 44634319 44634339 protein_bind: GATA binding protein 4 0 + 44634319 44634339 192,0,0 protein_binding_site G2 GATA-4-binding site 107303343|GeneID:107303343 12571085|PMID:12571085 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12571085] required for high-level duodenal enhancer activation G2 GATA-4-binding site | required for high-level duodenal enhancer activation | GATA binding protein 4 -chr20 44634319 44634339 protein_bind: pancreatic and duodenal homeobox 1 0 + 44634319 44634339 192,0,0 protein_binding_site FP 2c PDX-1-binding site 107303343|GeneID:107303343 11278481|PMID:11278481 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11278481] required for duodenal enhancer activity FP 2c PDX-1-binding site | required for duodenal enhancer activity | pancreatic and duodenal homeobox 1 -chr20 44634333 44634357 protein_bind: YY1 transcription factor 0 + 44634333 44634357 192,0,0 protein_binding_site C2/Y1 YY1-binding site 107303343|GeneID:107303343 15677472|PMID:15677472 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15677472] developmental timing of duodenal enhancer activation C2/Y1 YY1-binding site | developmental timing of duodenal enhancer activation | YY1 transcription factor -chr20 44634333 44634357 protein_bind: caudal type homeobox 1 or 2 0 + 44634333 44634357 192,0,0 protein_binding_site C2/Y1 Cdx-binding site 107303343|GeneID:107303343 15677472|PMID:15677472 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15677472] developmental timing of duodenal enhancer activation C2/Y1 Cdx-binding site | developmental timing of duodenal enhancer activation | caudal type homeobox 1 or 2 -chr20 44634349 44634370 protein_bind: pancreatic and duodenal homeobox 1 0 + 44634349 44634370 192,0,0 protein_binding_site FP 2a PDX-1-binding site 107303343|GeneID:107303343 11278481|PMID:11278481 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11278481] required for duodenal enhancer activity FP 2a PDX-1-binding site | required for duodenal enhancer activity | pancreatic and duodenal homeobox 1 -chr20 44634379 44634404 protein_bind: caudal type homeobox 1 or 2 0 + 44634379 44634404 192,0,0 protein_binding_site C1 Cdx-binding site 107303343|GeneID:107303343 15677472|PMID:15677472 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15677472] developmental timing of duodenal enhancer activation C1 Cdx-binding site | developmental timing of duodenal enhancer activation | caudal type homeobox 1 or 2 -chr20 44634450 44634472 protein_bind: GATA binding protein 4 0 + 44634450 44634472 192,0,0 protein_binding_site G1 GATA-4-binding site 107303343|GeneID:107303343 12571085|PMID:12571085 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12571085] required for high-level duodenal enhancer activation G1 GATA-4-binding site | required for high-level duodenal enhancer activation | GATA binding protein 4 -chr20 44634595 44634745 DNase_I_hypersensitive_site 0 + 44634595 44634745 0,128,128 region HS-C; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 16950765|PMID:16950765 COORDINATES:manual assertion [ECO:0000218][PMID:16950765] HS-C; the nucleotide coordinates are approximate for this feature -chr20 44634595 44634745 transcriptional_cis_regulatory_region 0 + 44634595 44634745 0,128,128 region HS-C temporal element 107303343|GeneID:107303343 16950765|PMID:16950765 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16950765] controls duodenal enhancer activation timing HS-C temporal element | controls duodenal enhancer activation timing -chr20 44634614 44634634 protein_bind: nuclear factor I/C (CCAAT-binding transcription factor) 0 + 44634614 44634634 192,0,0 protein_binding_site NFI site 3 107303343|GeneID:107303343 16950765|PMID:16950765 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16950765] NFI site 3 | nuclear factor I/C (CCAAT-binding transcription factor) -chr20 44634664 44634685 protein_bind: YY1 transcription factor 0 + 44634664 44634685 192,0,0 protein_binding_site YY1 site 2 107303343|GeneID:107303343 16950765|PMID:16950765 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16950765] YY1 site 2 | YY1 transcription factor -chr20 44634664 44634685 protein_bind: one cut domain, family member 1 or 2 0 + 44634664 44634685 192,0,0 protein_binding_site OC site 2; binds OC-1/HNF-6 or OC-2, but not OC-3 107303343|GeneID:107303343 16950765|PMID:16950765 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16950765] enhancer activation timing in developing postnatal intestine OC site 2; binds OC-1/HNF-6 or OC-2, but not OC-3 | enhancer activation timing in developing postnatal intestine | one cut domain, family member 1 or 2 -chr20 44634713 44634734 protein_bind: YY1 transcription factor 0 + 44634713 44634734 192,0,0 protein_binding_site YY1 site 1 107303343|GeneID:107303343 16950765|PMID:16950765 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16950765] YY1 site 1 | YY1 transcription factor -chr20 44638624 44651567 locus_control_region 0 + 44638624 44651567 0,128,128 locus_control_region 12.8 kb BssHII intron 1 fragment 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:2606352] high-level expression of ADA in thymus 12.8 kb BssHII intron 1 fragment | high-level expression of ADA in thymus -chr20 44641700 44642300 DNase_I_hypersensitive_site 0 + 44641700 44642300 0,128,128 region HS VI; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2606352] HS VI; the nucleotide coordinates are approximate for this feature -chr20 44642892 44643492 DNase_I_hypersensitive_site 0 + 44642892 44643492 0,128,128 region HS V; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2606352] HS V; the nucleotide coordinates are approximate for this feature -chr20 44644516 44645116 DNase_I_hypersensitive_site 0 + 44644516 44645116 0,128,128 region HS IV; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2606352] HS IV; the nucleotide coordinates are approximate for this feature -chr20 44645055 44645614 transcriptional_cis_regulatory_region 0 + 44645055 44645614 0,128,128 region 559 bp SphI-TthIII 3' facilitator fragment 107303343|GeneID:107303343 7823928|PMID:7823928 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:7823928] facilitation of T cell-specific enhancer activity 559 bp SphI-TthIII 3' facilitator fragment | facilitation of T cell-specific enhancer activity -chr20 44645055 44647309 locus_control_region 0 + 44645055 44647309 0,128,128 locus_control_region 2.3 kb SphI LCR fragment 107303343|GeneID:107303343 7565722|PMID:7565722,7823928|PMID:7823928,9016677|PMID:9016677 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:7565722, PMID:9016677, PMID:7823928] high-level expression of ADA in thymus 2.3 kb SphI LCR fragment | high-level expression of ADA in thymus -chr20 44646051 44647305 enhancer 0 + 44646051 44647305 0,128,128 enhancer 1.3 kb thymic enhancer fragment; includes HS II and HS III 107303343|GeneID:107303343 1508212|PMID:1508212,1781406|PMID:1781406,2606352|PMID:2606352 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1508212, PMID:2606352, PMID:1781406] enhancer of ADA expression in thymus 1.3 kb thymic enhancer fragment; includes HS II and HS III | enhancer of ADA expression in thymus -chr20 44646089 44646689 DNase_I_hypersensitive_site 0 + 44646089 44646689 0,128,128 region HS III; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2606352] HS III; the nucleotide coordinates are approximate for this feature -chr20 44646236 44646263 protein_bind: Spi-1 proto-oncogene 0 + 44646236 44646263 192,0,0 protein_binding_site PU-binding site 107303343|GeneID:107303343 1508212|PMID:1508212 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1508212] PU-binding site | Spi-1 proto-oncogene -chr20 44646295 44646308 protein_bind: lymphoid enhancer binding factor 1 0 + 44646295 44646308 192,0,0 protein_binding_site TCF-1alpha- or LEF-1/TCF-1-binding site 107303343|GeneID:107303343 1508212|PMID:1508212,9016677|PMID:9016677 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1508212, PMID:9016677] necessary for position-independent transgene expression in thymus TCF-1alpha- or LEF-1/TCF-1-binding site | necessary for position-independent transgene expression in thymus | lymphoid enhancer binding factor 1 -chr20 44646302 44646330 transcriptional_cis_regulatory_region 0 + 44646302 44646330 0,128,128 region 28 bp critical core 107303343|GeneID:107303343 1508212|PMID:1508212 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1508212] necessary for ADA thymic enhancer activity 28 bp critical core | necessary for ADA thymic enhancer activity -chr20 44646306 44646319 protein_bind: nuclear factor I/C (CCAAT-binding transcription factor) 0 + 44646306 44646319 192,0,0 protein_binding_site ADA-NF2-binding site 107303343|GeneID:107303343 1508212|PMID:1508212 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1508212] ADA-NF2-binding site | nuclear factor I/C (CCAAT-binding transcription factor) -chr20 44646313 44646332 protein_bind: nuclear factor I/C (CCAAT-binding transcription factor) 0 + 44646313 44646332 192,0,0 protein_binding_site ADA-NF1-binding site 107303343|GeneID:107303343 1508212|PMID:1508212 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1508212] ADA-NF1-binding site | nuclear factor I/C (CCAAT-binding transcription factor) -chr20 44646318 44646327 protein_bind: MYB proto-oncogene, transcription factor 0 + 44646318 44646327 192,0,0 protein_binding_site c-Myb-binding site 107303343|GeneID:107303343 7565722|PMID:7565722 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7565722] necessary for LCR and enhancer activity c-Myb-binding site | necessary for LCR and enhancer activity | MYB proto-oncogene, transcription factor -chr20 44646713 44647309 transcriptional_cis_regulatory_region 0 + 44646713 44647309 0,128,128 region 591 bp EcoRI-SphI 5' facilitator fragment 107303343|GeneID:107303343 7823928|PMID:7823928 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:7823928] facilitation of T cell-specific enhancer activity 591 bp EcoRI-SphI 5' facilitator fragment | facilitation of T cell-specific enhancer activity -chr20 44646890 44647290 DNase_I_hypersensitive_site 0 + 44646890 44647290 0,128,128 region HS II; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2606352] HS II; the nucleotide coordinates are approximate for this feature -chr20 44647290 44647690 DNase_I_hypersensitive_site 0 + 44647290 44647690 0,128,128 region HS I; the nucleotide coordinates are approximate for this feature 107303343|GeneID:107303343 2606352|PMID:2606352 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:2606352] HS I; the nucleotide coordinates are approximate for this feature -chr20 44649730 44650034 retrotransposon:AluY 0 + 44649730 44650034 0,0,192 mobile_genetic_element direction; reverse 108167311|GeneID:108167311 direction; reverse -chr20 44649938 44649960 non_allelic_homologous 0 + 44649938 44649960 160,82,45 recombination_feature proximal ADA NAHR recombination breakpoint sub-region, recombines with the distal ADA NAHR recombination breakpoint sub-region within the distal ADA Alu-mediated recombination region, resulting in a deletion 108167311|GeneID:108167311 1696926|PMID:1696926,3366897|PMID:3366897 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:3366897, PMID:1696926] proximal ADA NAHR recombination breakpoint sub-region, recombines with the distal ADA NAHR recombination breakpoint sub-region within the distal ADA Alu-mediated recombination region, resulting in a deletion -chr20 44652980 44653289 retrotransposon:AluY 0 + 44652980 44653289 0,0,192 mobile_genetic_element direction; reverse 108167312|GeneID:108167312 direction; reverse -chr20 44653194 44653216 non_allelic_homologous 0 + 44653194 44653216 160,82,45 recombination_feature proximal ADA NAHR recombination breakpoint sub-region, recombines with the distal ADA NAHR recombination breakpoint sub-region within the distal ADA Alu-mediated recombination region, resulting in a deletion 108167312|GeneID:108167312 1696926|PMID:1696926,3366897|PMID:3366897 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:3366897, PMID:1696926] proximal ADA NAHR recombination breakpoint sub-region, recombines with the distal ADA NAHR recombination breakpoint sub-region within the distal ADA Alu-mediated recombination region, resulting in a deletion -chr20 47651070 47651157 tandem 0 + 47651070 47651157 0,0,192 repeat_region 109621227|GeneID:109621227,8202|GeneID:8202 repeat_region -chr20 47651071 47651158 repeat_instability_region 0 + 47651071 47651158 192,0,192 sequence_feature repeat instability region; instability of the polyglutamine-encoding CAG and CAA repeats has been observed in some somatic cells 109621227|GeneID:109621227,8202|GeneID:8202 14684685|PMID:14684685,16670003|PMID:16670003 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:14684685, PMID:16670003] repeat instability region; instability of the polyglutamine-encoding CAG and CAA repeats has been observed in some somatic cells -chr20 50689769 50692625 enhancer 0 + 50689769 50692625 0,128,128 enhancer VISTA enhancer hs1860 110121454|GeneID:110121454 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/5] VISTA enhancer hs1860 | enhancer in: midbrain (mesencephalon)[5/5] -chr20 55666587 55669614 enhancer 0 + 55666587 55669614 0,128,128 enhancer VISTA enhancer hs1448 110121370|GeneID:110121370 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/4] | tail[4/4] VISTA enhancer hs1448 | enhancer in: limb[4/4] | tail[4/4] -chr20 57266128 57269490 promoter 0 + 57266128 57269490 0,128,128 promoter 3.3 kb promoter fragment 109461473|GeneID:109461473 11401538|PMID:11401538 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11401538] 3.3 kb promoter fragment -chr20 57266747 57266840 transcriptional_cis_regulatory_region 0 + 57266747 57266840 0,128,128 region AatI/PvuII fragment 109461473|GeneID:109461473 11401538|PMID:11401538 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11401538] negative regulation of promoter activity AatI/PvuII fragment | negative regulation of promoter activity -chr20 57439653 57444237 enhancer 0 + 57439653 57444237 0,128,128 enhancer VISTA enhancer hs1971 110121469|GeneID:110121469 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[10/10] VISTA enhancer hs1971 | enhancer in: heart[10/10] -chr20 64049515 64050624 promoter 0 + 64049515 64050624 0,128,128 promoter 1.0 kb promoter 108281116|GeneID:108281116,6919|GeneID:6919 24269235|PMID:24269235 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24269235] 1.0 kb promoter -chr20 64049518 64049779 promoter 0 + 64049518 64049779 0,128,128 promoter 255pCAT6; PvuII/StuI fragment for core promoter 108281116|GeneID:108281116,6919|GeneID:6919 20054233|PMID:20054233 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20054233] 255pCAT6; PvuII/StuI fragment for core promoter -chr20 64049518 64050416 promoter 0 + 64049518 64050416 0,128,128 promoter 892pCAT6; PvuII/PstI fragment for optimal promoter 108281116|GeneID:108281116,6919|GeneID:6919 20054233|PMID:20054233 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:20054233] 892pCAT6; PvuII/PstI fragment for optimal promoter -chr20 64049680 64049716 protein_bind: Sp3 transcription factor 0 + 64049680 64049716 192,0,0 protein_binding_site SOX18-A1F 108281116|GeneID:108281116,6919|GeneID:6919 18496767|PMID:18496767 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18496767] SOX18-A1F | Sp3 transcription factor -chr20 64049680 64049716 protein_bind: early growth response 1 0 + 64049680 64049716 192,0,0 protein_binding_site EGR1 IV 108281116|GeneID:108281116,6919|GeneID:6919 20054233|PMID:20054233 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20054233] positive regulation of transcription EGR1 IV | positive regulation of transcription | early growth response 1 -chr20 64049680 64049716 protein_bind: nuclear transcription factor Y 0 + 64049680 64049716 192,0,0 protein_binding_site SOX18-A1F 108281116|GeneID:108281116,6919|GeneID:6919 18496767|PMID:18496767 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18496767] SOX18-A1F | nuclear transcription factor Y -chr20 64049680 64049716 protein_bind: zinc finger protein 148 0 + 64049680 64049716 192,0,0 protein_binding_site SOX18-A1F 108281116|GeneID:108281116,6919|GeneID:6919 18496767|PMID:18496767 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18496767] SOX18-A1F | zinc finger protein 148 -chr20 64049889 64049915 protein_bind: GLI family zinc finger 1 0 + 64049889 64049915 192,0,0 protein_binding_site SOX18-FG4 108281116|GeneID:108281116,6919|GeneID:6919 26588701|PMID:26588701 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26588701] SOX18-FG4 | GLI family zinc finger 1 -chr20 64049959 64049990 protein_bind: GLI family zinc finger 1 0 + 64049959 64049990 192,0,0 protein_binding_site SOX18-FG2 108281116|GeneID:108281116,6919|GeneID:6919 26588701|PMID:26588701 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26588701] SOX18-FG2 | GLI family zinc finger 1 -chr21 14766650 14768598 meiotic 0 + 14766650 14768598 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107403153|GeneID:107403153 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr21 14766741 14769402 meiotic 0 + 14766741 14769402 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107403153|GeneID:107403153 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr21 14767047 14768846 meiotic 0 + 14767047 14768846 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107403153|GeneID:107403153 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr21 14767307 14768607 meiotic 0 + 14767307 14768607 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107403153|GeneID:107403153 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr21 14768841 14768857 nucleotide_motif 0 + 14768841 14768857 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107403153|GeneID:107403153 nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr21 16308840 16310481 enhancer 0 + 16308840 16310481 0,128,128 enhancer VISTA enhancer hs1304 110121341|GeneID:110121341,388815|GeneID:388815 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/5] | hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[5/5] VISTA enhancer hs1304 | enhancer in: neural tube[5/5] | hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[5/5] -chr21 16578691 16581339 enhancer 0 + 16578691 16581339 0,128,128 enhancer VISTA enhancer hs1441 110121368|GeneID:110121368,388815|GeneID:388815 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[7/9] | limb[9/9] VISTA enhancer hs1441 | enhancer in: somite[7/9] | limb[9/9] -chr21 24715299 24717804 meiotic 0 + 24715299 24717804 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107403075|GeneID:107403075 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr21 24715427 24717804 meiotic 0 + 24715427 24717804 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107403075|GeneID:107403075 18650392|PMID:18650392 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:18650392] this region was identified as a recombination hotspot within the HapMap CEU population -chr21 24716820 24718120 meiotic 0 + 24716820 24718120 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107403075|GeneID:107403075 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr21 24716946 24717991 meiotic 0 + 24716946 24717991 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107403075|GeneID:107403075 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr21 24717447 24717460 nucleotide_motif 0 + 24717447 24717460 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107403075|GeneID:107403075 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr21 26954007 26955434 enhancer 0 + 26954007 26955434 0,128,128 enhancer VISTA enhancer hs1684 110121429|GeneID:110121429 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[5/6] | midbrain (mesencephalon)[3/6] | dorsal root ganglion[5/6] | trigeminal V (ganglion, cranial)[3/6] VISTA enhancer hs1684 | enhancer in: somite[5/6] | midbrain (mesencephalon)[3/6] | dorsal root ganglion[5/6] | trigeminal V (ganglion, cranial)[3/6] -chr21 32849145 32851638 enhancer 0 + 32849145 32851638 0,128,128 enhancer VISTA enhancer hs1548 110121395|GeneID:110121395 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs1548 | enhancer in: forebrain[6/6] -chr21 32918473 32919807 enhancer 0 + 32918473 32919807 0,128,128 enhancer VISTA enhancer hs1188 110121331|GeneID:110121331,105377136|GeneID:105377136 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/6] | hindbrain (rhombencephalon)[3/6] | midbrain (mesencephalon)[3/6] | forebrain[3/6] VISTA enhancer hs1188 | enhancer in: neural tube[3/6] | hindbrain (rhombencephalon)[3/6] | midbrain (mesencephalon)[3/6] | forebrain[3/6] -chr21 33093652 33096760 enhancer 0 + 33093652 33096760 0,128,128 enhancer VISTA enhancer hs1346 110121350|GeneID:110121350 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] | forebrain[8/8] VISTA enhancer hs1346 | enhancer in: midbrain (mesencephalon)[7/8] | forebrain[8/8] -chr21 34334576 34338488 enhancer 0 + 34334576 34338488 0,128,128 enhancer VISTA enhancer hs2174 110121495|GeneID:110121495 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/13] | eye[11/13] VISTA enhancer hs2174 | enhancer in: hindbrain (rhombencephalon)[6/13] | eye[11/13] -chr21 34543665 34547364 enhancer 0 + 34543665 34547364 0,128,128 enhancer VISTA enhancer hs2084 110121481|GeneID:110121481 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/5] VISTA enhancer hs2084 | enhancer in: other[4/5] -chr21 34808330 34808841 enhancer 0 + 34808330 34808841 0,128,128 enhancer 109648316|GeneID:109648316 26374622|PMID:26374622 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26374622] enhancer -chr21 34808668 34808737 enhancer 0 + 34808668 34808737 0,128,128 enhancer 69bp fragment (20bp+rs2249650(A/G)-rs2268276(G/A)+20bp) 109648316|GeneID:109648316 26374622|PMID:26374622 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26374622] 69bp fragment (20bp+rs2249650(A/G)-rs2268276(G/A)+20bp) -chr21 34808668 34808737 protein_bind: Spi-1 proto-oncogene 0 + 34808668 34808737 192,0,0 protein_binding_site 69bp fragment (20bp+rs2249650(A/G)-rs2268276(G/A)+20bp) 109648316|GeneID:109648316 26374622|PMID:26374622 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26374622] 69bp fragment (20bp+rs2249650(A/G)-rs2268276(G/A)+20bp) | Spi-1 proto-oncogene -chr21 35026671 35027174 enhancer 0 + 35026671 35027174 0,128,128 enhancer RE1 109648314|GeneID:109648314 21445863|PMID:21445863 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21445863] enhancer in K562 and Jurkat cells RE1 | enhancer in K562 and Jurkat cells -chr21 35233938 35236564 enhancer 0 + 35233938 35236564 0,128,128 enhancer 2.6 kb enhancer 4 fragment 109648317|GeneID:109648317 26883634|PMID:26883634 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26883634] 2.6 kb enhancer 4 fragment -chr21 36860044 36860633 enhancer 0 + 36860044 36860633 0,128,128 enhancer amplified fragment containing the chr21:38232574-38232719 (GRCh37) CAGE region 108281168|GeneID:108281168 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr21:38232574-38232719 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr21 36860273 36860419 CAGE_cluster 0 + 36860273 36860419 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281168|GeneID:108281168 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr21 37855303 37856921 enhancer 0 + 37855303 37856921 0,128,128 enhancer VISTA enhancer hs1811 110121448|GeneID:110121448 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[6/7] VISTA enhancer hs1811 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[6/7] -chr21 38906975 38907515 enhancer 0 + 38906975 38907515 0,128,128 enhancer amplified fragment containing the chr21:40278958-40279421 (GRCh37) CAGE region 108281150|GeneID:108281150 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr21:40278958-40279421 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr21 38907033 38907497 CAGE_cluster 0 + 38907033 38907497 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281150|GeneID:108281150 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr21 38989432 38991200 enhancer 0 + 38989432 38991200 0,128,128 enhancer VISTA enhancer hs1516 110121385|GeneID:110121385 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | forebrain[4/5] | limb[4/5] | tail[4/5] VISTA enhancer hs1516 | enhancer in: hindbrain (rhombencephalon)[4/5] | forebrain[4/5] | limb[4/5] | tail[4/5] -chr21 39889465 39891794 meiotic 0 + 39889465 39891794 160,82,45 recombination_feature PCP4-1a sub-region, crossovers mapped in sperm cells 107548109|GeneID:107548109,5121|GeneID:5121 16680198|PMID:16680198 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16680198] PCP4-1a sub-region, crossovers mapped in sperm cells -chr21 39893478 39893986 meiotic 0 + 39893478 39893986 160,82,45 recombination_feature PCP4-1b sub-region, crossovers mapped in sperm cells 107548109|GeneID:107548109,5121|GeneID:5121 16680198|PMID:16680198 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16680198] PCP4-1b sub-region, crossovers mapped in sperm cells -chr21 39904870 39906930 meiotic 0 + 39904870 39906930 160,82,45 recombination_feature crossovers mapped in sperm cells 107548111|GeneID:107548111,5121|GeneID:5121 16680198|PMID:16680198 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:16680198] crossovers mapped in sperm cells -chr21 39905280 39906666 meiotic 0 + 39905280 39906666 160,82,45 recombination_feature This region was identified as a recombination hotspot within the HapMap YRI population. Increased recombination rates are also observed in the HapMap CEU population, but over a wide sequence range. 107548111|GeneID:107548111,5121|GeneID:5121 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] This region was identified as a recombination hotspot within the HapMap YRI population. Increased recombination rates are also observed in the HapMap CEU population, but over a wide sequence range. -chr21 39905316 39907264 meiotic 0 + 39905316 39907264 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107548111|GeneID:107548111,5121|GeneID:5121 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr21 42590761 42594212 enhancer 0 + 42590761 42594212 0,128,128 enhancer VISTA enhancer hs2248 110121500|GeneID:110121500 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/14] | limb[8/14] VISTA enhancer hs2248 | enhancer in: neural tube[5/14] | limb[8/14] -chr21 43440805 43441370 enhancer 0 + 43440805 43441370 0,128,128 enhancer amplified fragment containing most of the chr21:44860778-44861412 (GRCh37) CAGE region 108251799|GeneID:108251799,107987302|GeneID:107987302 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr21:44860778-44861412 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr21 43440897 43441532 CAGE_cluster 0 + 43440897 43441532 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251799|GeneID:108251799,107987302|GeneID:107987302 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr21 43712087 43712709 enhancer 0 + 43712087 43712709 0,128,128 enhancer amplified fragment containing the chr21:45132062-45132504 (GRCh37) CAGE region 108281139|GeneID:108281139 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr21:45132062-45132504 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr21 43712180 43712623 CAGE_cluster 0 + 43712180 43712623 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281139|GeneID:108281139 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr21 43767979 43768561 CAGE_cluster 0 + 43767979 43768561 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254685|GeneID:108254685 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr21 43768042 43768615 enhancer 0 + 43768042 43768615 0,128,128 enhancer amplified fragment containing most of the chr21:45187861-45188442 (GRCh37) CAGE region 108254685|GeneID:108254685 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr21:45187861-45188442 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa and HepG2 cells -chr21 43776442 43776479 tandem 0 + 43776442 43776479 0,0,192 repeat_region 109029533|GeneID:109029533 repeat_region -chr21 43776443 43776479 repeat_instability_region 0 + 43776443 43776479 192,0,192 sequence_feature repeat instability region; expansion of the (CCCCGCCCCGCG)n dodecamer repeat is associated with progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) 109029533|GeneID:109029533 9126745|PMID:9126745,10484766|PMID:10484766 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9126745, PMID:10484766] repeat instability region; expansion of the (CCCCGCCCCGCG)n dodecamer repeat is associated with progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) -chr21 44967928 44968509 enhancer 0 + 44967928 44968509 0,128,128 enhancer amplified fragment containing most of the chr21:46387960-46388437 (GRCh37) CAGE region 108281151|GeneID:108281151,85395|GeneID:85395 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr21:46387960-46388437 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr21 44968044 44968522 CAGE_cluster 0 + 44968044 44968522 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281151|GeneID:108281151,85395|GeneID:85395 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr22 17218811 17219172 enhancer 0 + 17218811 17219172 0,128,128 enhancer 106799832|GeneID:106799832 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr22 17781179 17782193 enhancer 0 + 17781179 17782193 0,128,128 enhancer 106799835|GeneID:106799835 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr22 18936274 18936509 transcriptional_cis_regulatory_region 0 + 18936274 18936509 0,128,128 region 230 bp fragment overlapping with CpGPRODH 106660608|GeneID:106660608 24218577|PMID:24218577 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24218577] reinforces activity of hsERVPRODH enhancer in Tera-1 cells 230 bp fragment overlapping with CpGPRODH | reinforces activity of hsERVPRODH enhancer in Tera-1 cells -chr22 18936335 18936370 direct 0 + 18936335 18936370 0,0,192 repeat_region 106660608|GeneID:106660608 repeat_region -chr22 18936519 18939737 enhancer 0 + 18936519 18939737 0,128,128 enhancer PRODH upstream region including hsERVPRODH 106660608|GeneID:106660608 24218577|PMID:24218577 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24218577] increases expression in Tera-1 cells; cytosine methylation sensitive PRODH upstream region including hsERVPRODH | increases expression in Tera-1 cells; cytosine methylation sensitive -chr22 18938673 18939641 retrotransposon:LTR5_Hs 0 + 18938673 18939641 0,0,192 mobile_genetic_element 106660608|GeneID:106660608 mobile_genetic_element -chr22 18938859 18938896 protein_bind: SRY (sex determining region Y)-box 2 0 + 18938859 18938896 192,0,0 protein_binding_site SOX2, site 2 106660608|GeneID:106660608 24218577|PMID:24218577 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24218577] SOX2, site 2 | SRY (sex determining region Y)-box 2 -chr22 18939358 18939390 protein_bind: SRY (sex determining region Y)-box 2 0 + 18939358 18939390 192,0,0 protein_binding_site SOX2, site 1 106660608|GeneID:106660608 24218577|PMID:24218577 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24218577] SOX2, site 1 | SRY (sex determining region Y)-box 2 -chr22 19761832 19762532 enhancer 0 + 19761832 19762532 0,128,128 enhancer VISTA enhancer hs515 110120888|GeneID:110120888,6899|GeneID:6899 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/8] VISTA enhancer hs515 | enhancer in: limb[5/8] -chr22 20157039 20157277 enhancer_blocking_element 0 + 20157039 20157277 0,128,128 insulator candidate insulator 22-3; strong CTCF association in K562 cells 108510655|GeneID:108510655 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 22-3; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr22 20157039 20157277 insulator 0 + 20157039 20157277 0,128,128 region candidate insulator 22-3; strong CTCF association in K562 cells 108510655|GeneID:108510655 24098520|PMID:24098520 EXISTENCE:in vivo assay evidence [ECO:0000178][PMID:24098520] protects against retroviral vector genotoxicity in a mouse in vivo tumor formation model candidate insulator 22-3; strong CTCF association in K562 cells | protects against retroviral vector genotoxicity in a mouse in vivo tumor formation model -chr22 20420770 20424717 enhancer 0 + 20420770 20424717 0,128,128 enhancer VISTA enhancer hs1620 110121413|GeneID:110121413 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/10] | dorsal root ganglion[7/10] | limb[8/10] | branchial arch[8/10] VISTA enhancer hs1620 | enhancer in: hindbrain (rhombencephalon)[6/10] | dorsal root ganglion[7/10] | limb[8/10] | branchial arch[8/10] -chr22 21599078 21600013 enhancer 0 + 21599078 21600013 0,128,128 enhancer VISTA enhancer hs2026 110121474|GeneID:110121474,7332|GeneID:7332 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[9/17] VISTA enhancer hs2026 | enhancer in: tail[9/17] -chr22 22559161 22559459 enhancer_blocking_element 0 + 22559161 22559459 0,128,128 insulator candidate insulator 22-2; strong CTCF association in K562 cells 108491837|GeneID:108491837,3535|GeneID:3535 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 22-2; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr22 23178473 23178710 enhancer_blocking_element 0 + 23178473 23178710 0,128,128 insulator candidate insulator 22-1; strong CTCF association in K562 cells 108491832|GeneID:108491832 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 22-1; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr22 23217697 23253190 mitotic 0 + 23217697 23253190 160,82,45 recombination_feature BCR-ABL minor-breakpoint cluster region recombines with the ABL minor-breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e1a2 transcript 107963951|GeneID:107963951,613|GeneID:613 20703256|PMID:20703256 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20703256] BCR-ABL minor-breakpoint cluster region recombines with the ABL minor-breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e1a2 transcript -chr22 23238263 23242840 meiotic 0 + 23238263 23242840 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU and YRI populations 107963951|GeneID:107963951,613|GeneID:613 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU and YRI populations -chr22 23241612 23243116 meiotic 0 + 23241612 23243116 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107963951|GeneID:107963951,613|GeneID:613 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr22 23271592 23273080 mitotic 0 + 23271592 23273080 160,82,45 recombination_feature BCR-ABL p195 breakpoint cluster region, recombines with the ABL breakpoint recombination region, producing the e6a2 transcript 107966121|GeneID:107966121,613|GeneID:613 21804629|PMID:21804629,26149409|PMID:26149409 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26149409, PMID:21804629] BCR-ABL p195 breakpoint cluster region, recombines with the ABL breakpoint recombination region, producing the e6a2 transcript -chr22 23273726 23283976 mitotic 0 + 23273726 23283976 160,82,45 recombination_feature BCR-ABL p200 breakpoint cluster region, recombines with the ABL breakpoint recombination region, producing the e8a2 transcript 107963947|GeneID:107963947,613|GeneID:613 10233416|PMID:10233416,10516770|PMID:10516770 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10233416, PMID:10516770] BCR-ABL p200 breakpoint cluster region, recombines with the ABL breakpoint recombination region, producing the e8a2 transcript -chr22 23289648 23292535 mitotic 0 + 23289648 23292535 160,82,45 recombination_feature BCR-ABL major-breakpoint cluster CML sub-region recombines with the ABL major-breakpoint recombination CML sub-region within the ABL breakpoint recombination region, producing e13a2 and e14a2 transcripts 107963955|GeneID:107963955,613|GeneID:613 20703256|PMID:20703256 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20703256] BCR-ABL major-breakpoint cluster CML sub-region recombines with the ABL major-breakpoint recombination CML sub-region within the ABL breakpoint recombination region, producing e13a2 and e14a2 transcripts -chr22 23289752 23292274 mitotic 0 + 23289752 23292274 160,82,45 recombination_feature BCR-ABL major-breakpoint cluster ALL sub-region recombines with the ABL major-breakpoint recombination ALL sub-region within the ABL breakpoint recombination region, producing e13a2 and e14a2 transcripts 107963955|GeneID:107963955,613|GeneID:613 20703256|PMID:20703256 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20703256] BCR-ABL major-breakpoint cluster ALL sub-region recombines with the ABL major-breakpoint recombination ALL sub-region within the ABL breakpoint recombination region, producing e13a2 and e14a2 transcripts -chr22 23290057 23291859 meiotic 0 + 23290057 23291859 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107963955|GeneID:107963955,613|GeneID:613 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr22 23290111 23290478 meiotic 0 + 23290111 23290478 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107963955|GeneID:107963955,613|GeneID:613 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr22 23292625 23292626 mitotic 0 + 23292625 23292626 160,82,45 recombination_feature BCR e15a2 breakpoint recombination sub-region recombines with the ABL e15a2 breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e15a2 transcript 107963955|GeneID:107963955,613|GeneID:613 11392325|PMID:11392325 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11392325] BCR e15a2 breakpoint recombination sub-region recombines with the ABL e15a2 breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e15a2 transcript -chr22 23310394 23310413 mitotic 0 + 23310394 23310413 160,82,45 recombination_feature BCR-ABL p225 breakpoint cluster region, recombines with the ABL p225 breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e18a2 transcript 107966125|GeneID:107966125,613|GeneID:613 17268511|PMID:17268511,26252834|PMID:26252834 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26252834, PMID:17268511] BCR-ABL p225 breakpoint cluster region, recombines with the ABL p225 breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e18a2 transcript -chr22 23312487 23312880 mitotic 0 + 23312487 23312880 160,82,45 recombination_feature BCR-ABL micro-breakpoint cluster region recombines with the ABL micro-breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e19a2 transcript 107963948|GeneID:107963948,613|GeneID:613 15843824|PMID:15843824 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15843824] BCR-ABL micro-breakpoint cluster region recombines with the ABL micro-breakpoint recombination sub-region within the ABL breakpoint recombination region, producing the e19a2 transcript -chr22 25455712 25455816 enhancer 0 + 25455712 25455816 0,128,128 enhancer 106780824|GeneID:106780824,1416|GeneID:1416 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr22 27133995 27135061 enhancer 0 + 27133995 27135061 0,128,128 enhancer amplified fragment containing the chr22:27529960-27531023 (GRCh37) CAGE-defined region 108353816|GeneID:108353816 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in monocytes amplified fragment containing the chr22:27529960-27531023 (GRCh37) CAGE-defined region | transcribed enhancer in monocytes -chr22 27842324 27843730 enhancer 0 + 27842324 27843730 0,128,128 enhancer VISTA enhancer hs1271 110121337|GeneID:110121337 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/4] VISTA enhancer hs1271 | enhancer in: limb[3/4] -chr22 28350708 28352407 enhancer 0 + 28350708 28352407 0,128,128 enhancer VISTA enhancer hs1645 110121419|GeneID:110121419 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[9/11] | trigeminal V (ganglion, cranial)[8/11] | cranial nerve[8/11] VISTA enhancer hs1645 | enhancer in: dorsal root ganglion[9/11] | trigeminal V (ganglion, cranial)[8/11] | cranial nerve[8/11] -chr22 30318979 30319338 rep_origin: region spanning amplicons 4-5 0 + 30318979 30319338 0,0,0 origin_of_replication region spanning amplicons 4-5; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA 107275224|GeneID:107275224 19815620|PMID:19815620 EXISTENCE:fractionation evidence [ECO:0000100][PMID:19815620] region spanning amplicons 4-5; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA -chr22 30320186 30320355 rep_origin: amplicon 8 0 + 30320186 30320355 0,0,0 origin_of_replication amplicon 8; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA 107275224|GeneID:107275224 19815620|PMID:19815620 EXISTENCE:fractionation evidence [ECO:0000100][PMID:19815620] amplicon 8; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA -chr22 30822928 30823493 enhancer 0 + 30822928 30823493 0,128,128 enhancer amplified fragment containing the FANTOM5 chr22:31219107-31219239 (GRCh37) CAGE region 108178988|GeneID:108178988,23762|GeneID:23762 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the FANTOM5 chr22:31219107-31219239 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr22 30823119 30823252 CAGE_cluster 0 + 30823119 30823252 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108178988|GeneID:108178988,23762|GeneID:23762 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr22 30883151 30883435 rep_origin: ori2p amplicon 0 + 30883151 30883435 0,0,0 origin_of_replication ori2p amplicon; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA 107275225|GeneID:107275225,23762|GeneID:23762 17668008|PMID:17668008 EXISTENCE:fractionation evidence [ECO:0000100][PMID:17668008] ori2p amplicon; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA -chr22 31194234 31194918 rep_origin: region spanning amplicons 6-7 0 + 31194234 31194918 0,0,0 origin_of_replication region spanning amplicons 6-7; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA 107275221|GeneID:107275221,91445|GeneID:91445 19815620|PMID:19815620 EXISTENCE:fractionation evidence [ECO:0000100][PMID:19815620] region spanning amplicons 6-7; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA -chr22 31195848 31196020 rep_origin: amplicon 9 0 + 31195848 31196020 0,0,0 origin_of_replication amplicon 9; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA 107275221|GeneID:107275221,91445|GeneID:91445 19815620|PMID:19815620 EXISTENCE:fractionation evidence [ECO:0000100][PMID:19815620] amplicon 9; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA -chr22 31195919 31196224 rep_origin: ori2p amplicon 0 + 31195919 31196224 0,0,0 origin_of_replication ori2p amplicon; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA 107275221|GeneID:107275221,91445|GeneID:91445 17668008|PMID:17668008 EXISTENCE:fractionation evidence [ECO:0000100][PMID:17668008] ori2p amplicon; peak of nascent strand synthesis determined by quantitative PCR of size-fractionated nascent DNA -chr22 31623378 31627836 enhancer 0 + 31623378 31627836 0,128,128 enhancer VISTA enhancer hs2240 110121499|GeneID:110121499 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[15/16] | hindbrain (rhombencephalon)[14/16] | heart[5/16] VISTA enhancer hs2240 | enhancer in: neural tube[15/16] | hindbrain (rhombencephalon)[14/16] | heart[5/16] -chr22 31957196 31957548 rep_origin: site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA 0 + 31957196 31957548 0,0,0 origin_of_replication site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA; promotes replication of a plasmid 107228317|GeneID:107228317,7533|GeneID:7533 9356241|PMID:9356241 EXISTENCE:fractionation evidence [ECO:0000100][PMID:9356241] site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA; promotes replication of a plasmid -chr22 37985615 37986450 enhancer 0 + 37985615 37986450 0,128,128 enhancer VISTA enhancer hs564 110120893|GeneID:110120893,5435|GeneID:5435 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[9/13] VISTA enhancer hs564 | enhancer in: heart[9/13] -chr22 37998337 37999192 enhancer 0 + 37998337 37999192 0,128,128 enhancer VISTA enhancer hs486 110120880|GeneID:110120880,5435|GeneID:5435 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/10] VISTA enhancer hs486 | enhancer in: heart[4/10] -chr22 38033232 38034508 enhancer 0 + 38033232 38034508 0,128,128 enhancer VISTA enhancer hs491 110120882|GeneID:110120882,5435|GeneID:5435 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/7] VISTA enhancer hs491 | enhancer in: heart[3/7] -chr22 38046132 38046872 enhancer 0 + 38046132 38046872 0,128,128 enhancer VISTA enhancer hs492 110120883|GeneID:110120883 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | cranial nerve[4/5] VISTA enhancer hs492 | enhancer in: hindbrain (rhombencephalon)[4/5] | cranial nerve[4/5] -chr22 41935817 41936890 enhancer 0 + 41935817 41936890 0,128,128 enhancer amplified fragment containing the chr22:42331822-42332894 (GRCh37) CAGE-defined region 108348030|GeneID:108348030 24670763|PMID:24670763 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr22:42331822-42332894 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr22 45794653 45795563 rep_origin: STS-E to STS-F replication initiation zone 0 + 45794653 45795563 0,0,0 origin_of_replication STS-E to STS-F replication initiation zone; region encompassed by primer sets P5 and P6; peak of nascent strand synthesis in cell lines with an increased copy number of (ATTCT)n repeats; determined by quantitative PCR of size-fractionated nascent strands 107181287|GeneID:107181287,25814|GeneID:25814 17846122|PMID:17846122 EXISTENCE:fractionation evidence [ECO:0000100][PMID:17846122] STS-E to STS-F replication initiation zone; region encompassed by primer sets P5 and P6; peak of nascent strand synthesis in cell lines with an increased copy number of (ATTCT)n repeats; determined by quantitative PCR of size-fractionated nascent strands -chr22 45795306 45795444 replication_regulatory_region 0 + 45795306 45795444 0,128,128 region alleles with increased copy number of (ATTCT)n repeats can rescue DNA unwinding element (DUE) deletion in ectopic context of MYC replication region, as determined by quantitative PCR of size-fractionated nascent strands 107181287|GeneID:107181287,25814|GeneID:25814 17846122|PMID:17846122 EXISTENCE:fractionation evidence [ECO:0000100][PMID:17846122] alleles with increased copy number of (ATTCT)n repeats can rescue DNA unwinding element (DUE) deletion in ectopic context of MYC replication region, as determined by quantitative PCR of size-fractionated nascent strands -chr22 45795354 45795424 repeat_instability_region 0 + 45795354 45795424 192,0,192 sequence_feature repeat instability region; expansion of the (ATTCT)n pentanucleotide repeat is associated with spinocerebellar ataxia type 10 108660404|GeneID:108660404,25814|GeneID:25814 11017075|PMID:11017075 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:11017075] repeat instability region; expansion of the (ATTCT)n pentanucleotide repeat is associated with spinocerebellar ataxia type 10 -chr22 45795354 45795424 tandem 0 + 45795354 45795424 0,0,192 repeat_region 108660404|GeneID:108660404,25814|GeneID:25814 repeat_region -chr22 45795354 45795424 tandem 0 + 45795354 45795424 0,0,192 repeat_region n=14; non-pathogenic allele; does not promote DNA replication 107181287|GeneID:107181287,25814|GeneID:25814 n=14; non-pathogenic allele; does not promote DNA replication -chr22 45845034 45846420 enhancer 0 + 45845034 45846420 0,128,128 enhancer VISTA enhancer hs1559 110121397|GeneID:110121397 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[13/14] | forebrain[13/14] VISTA enhancer hs1559 | enhancer in: neural tube[13/14] | forebrain[13/14] -chr22 48288822 48290949 meiotic 0 + 48288822 48290949 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype 107832855|GeneID:107832855 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype -chr22 48289157 48290257 meiotic 0 + 48289157 48290257 160,82,45 recombination_feature crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to PRDM9 C-type alleles 107832855|GeneID:107832855 21750151|PMID:21750151 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:21750151] crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to PRDM9 C-type alleles -chr22 48289910 48289926 nucleotide_motif 0 + 48289910 48289926 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot 107832855|GeneID:107832855 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot -chr22 50539479 50540028 enhancer 0 + 50539479 50540028 0,128,128 enhancer amplified fragment containing the chr22:50977955-50978429 (GRCh37) CAGE region 108281149|GeneID:108281149 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr22:50977955-50978429 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr22 50539525 50540000 CAGE_cluster 0 + 50539525 50540000 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281149|GeneID:108281149 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr22_KI270875v1_alt 194818 195116 enhancer_blocking_element 0 + 194818 195116 0,128,128 insulator candidate insulator 22-2; strong CTCF association in K562 cells 108491837|GeneID:108491837 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 22-2; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr2_GL383521v1_alt 31889 35614 meiotic 0 - 31889 35614 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457596|GeneID:107457596 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr2_GL383521v1_alt 32478 33933 meiotic 0 - 32478 33933 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457596|GeneID:107457596 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr2_GL383521v1_alt 32518 34014 meiotic 0 - 32518 34014 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457596|GeneID:107457596 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr2_GL383521v1_alt 33118 34205 meiotic 0 - 33118 34205 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457596|GeneID:107457596 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr2_GL383521v1_alt 33326 33335 nucleotide_motif 0 - 33326 33335 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot 107457596|GeneID:107457596 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot -chr2_GL383521v1_alt 33326 33339 nucleotide_motif 0 - 33326 33339 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot 107457596|GeneID:107457596 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found close to the center of the hotspot -chr3 1662983 1665345 meiotic 0 + 1662983 1665345 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107522035|GeneID:107522035 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr3 1664421 1666637 meiotic 0 + 1664421 1666637 160,82,45 recombination_feature hotspot S1, crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with PRDM9 A alleles, and little recombination in some individuals with other PRDM9 alleles 107522035|GeneID:107522035 19349985|PMID:19349985,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:19349985, PMID:20818382] hotspot S1, crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with PRDM9 A alleles, and little recombination in some individuals with other PRDM9 alleles -chr3 1664487 1667109 meiotic 0 + 1664487 1667109 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107522035|GeneID:107522035 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr3 1664728 1665346 meiotic 0 + 1664728 1665346 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107522035|GeneID:107522035 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr3 1667519 1668548 meiotic 0 + 1667519 1668548 160,82,45 recombination_feature hotspot S2, crossovers mapped in sperm cells of males of European and African ancestries; hotspot activity is associated with the 'G' allele of the single nucleotide polymorphism (SNP) rs62262631 107522035|GeneID:107522035 19349985|PMID:19349985,20818382|PMID:20818382 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19349985, PMID:20818382] hotspot S2, crossovers mapped in sperm cells of males of European and African ancestries; hotspot activity is associated with the 'G' allele of the single nucleotide polymorphism (SNP) rs62262631 -chr3 1667836 1667837 sequence_alteration 0 + 1667836 1667837 192,0,192 sequence_feature sequence alteration; rs62262631 A>G, hotspot activity is associated with the 'G' allele, also known as S9.1G 107522035|GeneID:107522035 19349985|PMID:19349985 COORDINATES:natural variation mutant evidence [ECO:0001103][PMID:19349985] sequence alteration; rs62262631 A>G, hotspot activity is associated with the 'G' allele, also known as S9.1G -chr3 2380638 2385861 meiotic 0 + 2380638 2385861 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107522028|GeneID:107522028,152330|GeneID:152330 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr3 2380690 2386447 meiotic 0 + 2380690 2386447 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107522028|GeneID:107522028,152330|GeneID:152330 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr3 2381104 2381120 nucleotide_motif 0 + 2381104 2381120 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522028|GeneID:107522028,152330|GeneID:152330 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 2382074 2382090 nucleotide_motif 0 + 2382074 2382090 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522028|GeneID:107522028,152330|GeneID:152330 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 2383619 2383635 nucleotide_motif 0 + 2383619 2383635 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522028|GeneID:107522028,152330|GeneID:152330 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 2383656 2383672 nucleotide_motif 0 + 2383656 2383672 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522028|GeneID:107522028,152330|GeneID:152330 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 2383804 2383820 nucleotide_motif 0 + 2383804 2383820 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522028|GeneID:107522028,152330|GeneID:152330 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 2383871 2386323 meiotic 0 + 2383871 2386323 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107522028|GeneID:107522028,152330|GeneID:152330 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr3 2384155 2385955 meiotic 0 + 2384155 2385955 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles 107522028|GeneID:107522028,152330|GeneID:152330 20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles -chr3 2385671 2385684 nucleotide_motif 0 + 2385671 2385684 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522028|GeneID:107522028,152330|GeneID:152330 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 9950512 9950802 SINE:AluSx 0 + 9950512 9950802 0,0,192 mobile_genetic_element direction; reverse 107303337|GeneID:107303337,100874032|GeneID:100874032 direction; reverse -chr3 9950596 9950627 non_allelic_homologous 0 + 9950596 9950627 160,82,45 recombination_feature AluSx recombination sub-region, recombines with the AluSx recombination sub-region within the 3p25 IRAK2 Alu-mediated recombination region 107303337|GeneID:107303337,100874032|GeneID:100874032 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx recombination sub-region, recombines with the AluSx recombination sub-region within the 3p25 IRAK2 Alu-mediated recombination region -chr3 10030946 10031850 meiotic 0 + 10030946 10031850 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107303338|GeneID:107303338,2177|GeneID:2177 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr3 10031210 10031223 nucleotide_motif 0 + 10031210 10031223 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107303338|GeneID:107303338,2177|GeneID:2177 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 10031221 10031521 SINE:AluY 0 + 10031221 10031521 0,0,192 mobile_genetic_element direction; forward 107303338|GeneID:107303338,2177|GeneID:2177 direction; forward -chr3 10031263 10031276 nucleotide_motif 0 + 10031263 10031276 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107303338|GeneID:107303338,2177|GeneID:2177 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 10031451 10031481 non_allelic_homologous 0 + 10031451 10031481 160,82,45 recombination_feature AluY recombination sub-region a, recombines with the AluYm1 recombination sub-region within the 3p25 interleukin 1 receptor associated kinase 2 Alu-mediated recombination region 107303338|GeneID:107303338,2177|GeneID:2177 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region a, recombines with the AluYm1 recombination sub-region within the 3p25 interleukin 1 receptor associated kinase 2 Alu-mediated recombination region -chr3 10050026 10050938 meiotic 0 + 10050026 10050938 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype 107303338|GeneID:107303338,2177|GeneID:2177 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype -chr3 10050384 10050397 nucleotide_motif 0 + 10050384 10050397 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107303338|GeneID:107303338,2177|GeneID:2177 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 10067514 10067816 SINE:AluSx1 0 + 10067514 10067816 0,0,192 mobile_genetic_element direction; forward 107303338|GeneID:107303338,2177|GeneID:2177 direction; forward -chr3 10067596 10067617 non_allelic_homologous 0 + 10067596 10067617 160,82,45 recombination_feature AluSx1 recombination sub-region, recombines with the AluSx recombination sub-region within the 3p25 TATDN2 Alu-mediated recombination region 107303338|GeneID:107303338,2177|GeneID:2177 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx1 recombination sub-region, recombines with the AluSx recombination sub-region within the 3p25 TATDN2 Alu-mediated recombination region -chr3 10078348 10078653 SINE:AluY 0 + 10078348 10078653 0,0,192 mobile_genetic_element direction; reverse 107303338|GeneID:107303338,2177|GeneID:2177 direction; reverse -chr3 10078486 10078502 non_allelic_homologous 0 + 10078486 10078502 160,82,45 recombination_feature AluY recombination sub-region b, recombines with the AluY recombination sub-region d within the 3p25 IRAK2 Alu-mediated recombination region 107303338|GeneID:107303338,2177|GeneID:2177 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region b, recombines with the AluY recombination sub-region d within the 3p25 IRAK2 Alu-mediated recombination region -chr3 10120031 10120196 SINE:AluSx4 0 + 10120031 10120196 0,0,192 mobile_genetic_element direction; reverse 107303339|GeneID:107303339,55845|GeneID:55845 direction; reverse -chr3 10120132 10120137 non_allelic_homologous 0 + 10120132 10120137 160,82,45 recombination_feature AluSx3 recombination sub-region, recombines with the AluSg recombination sub-region within the 3p25 IRAK2 Alu-mediated recombination region 107303339|GeneID:107303339,55845|GeneID:55845 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx3 recombination sub-region, recombines with the AluSg recombination sub-region within the 3p25 IRAK2 Alu-mediated recombination region -chr3 10127305 10127605 SINE:AluYm1 0 + 10127305 10127605 0,0,192 mobile_genetic_element direction; forward 107303339|GeneID:107303339 direction; forward -chr3 10127403 10127412 non_allelic_homologous 0 + 10127403 10127412 160,82,45 recombination_feature AluYm1 recombination sub-region, recombines with the AluY recombination sub-region d within the 3p25 IRAK2 Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluYm1 recombination sub-region, recombines with the AluY recombination sub-region d within the 3p25 IRAK2 Alu-mediated recombination region -chr3 10130816 10131114 SINE:AluSz 0 + 10130816 10131114 0,0,192 mobile_genetic_element direction; forward 107303339|GeneID:107303339 direction; forward -chr3 10131026 10131032 non_allelic_homologous 0 + 10131026 10131032 160,82,45 recombination_feature AluSz recombination sub-region, recombines with the AluSx recombination sub-region b within the 3p25 VHL Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSz recombination sub-region, recombines with the AluSx recombination sub-region b within the 3p25 VHL Alu-mediated recombination region -chr3 10131446 10131607 SINE:FLAM_C 0 + 10131446 10131607 0,0,192 mobile_genetic_element direction; reverse 107303339|GeneID:107303339 direction; reverse -chr3 10131586 10131589 non_allelic_homologous 0 + 10131586 10131589 160,82,45 recombination_feature FLAM_C recombination sub-region, recombines with the MLT1H recombination sub-region within the 3p25 VHL Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] FLAM_C recombination sub-region, recombines with the MLT1H recombination sub-region within the 3p25 VHL Alu-mediated recombination region -chr3 10133960 10134243 SINE:AluSq2 0 + 10133960 10134243 0,0,192 mobile_genetic_element direction; forward 107303339|GeneID:107303339 direction; forward -chr3 10133979 10134180 non_allelic_homologous 0 + 10133979 10134180 160,82,45 recombination_feature AluSq2 recombination sub-region, recombines with the AluSx3 recombination sub-region within the 3p25 VHL Alu-mediated recombination region and the AluYm1 recombination sub-region within the 3p25 IRAK2 Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSq2 recombination sub-region, recombines with the AluSx3 recombination sub-region within the 3p25 VHL Alu-mediated recombination region and the AluYm1 recombination sub-region within the 3p25 IRAK2 Alu-mediated recombination region -chr3 10136666 10136930 retrotransposon:LTR12C 0 + 10136666 10136930 0,0,192 mobile_genetic_element direction; reverse 107303339|GeneID:107303339 direction; reverse -chr3 10136783 10136787 non_allelic_homologous 0 + 10136783 10136787 160,82,45 recombination_feature LTR12C recombination sub-region, recombines with the NAHR recombination sub-region b within the 3p25 TATDN2 Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] LTR12C recombination sub-region, recombines with the NAHR recombination sub-region b within the 3p25 TATDN2 Alu-mediated recombination region -chr3 10137016 10137317 SINE:AluY 0 + 10137016 10137317 0,0,192 mobile_genetic_element direction; forward 107303339|GeneID:107303339 direction; forward -chr3 10137094 10137111 non_allelic_homologous 0 + 10137094 10137111 160,82,45 recombination_feature AluY recombination sub-region a, recombines with the AluY recombination sub-region a within the 3p25 VHL Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region a, recombines with the AluY recombination sub-region a within the 3p25 VHL Alu-mediated recombination region -chr3 10138112 10138411 SINE:AluY 0 + 10138112 10138411 0,0,192 mobile_genetic_element direction; reverse 107303339|GeneID:107303339 direction; reverse -chr3 10138129 10138400 non_allelic_homologous 0 + 10138129 10138400 160,82,45 recombination_feature AluY recombination sub-region b, recombines with the AluSg recombination sub-region within the 3p25 VHL Alu-mediated recombination region and the AluY recombination sub-region b within the IRAK2 Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region b, recombines with the AluSg recombination sub-region within the 3p25 VHL Alu-mediated recombination region and the AluY recombination sub-region b within the IRAK2 Alu-mediated recombination region -chr3 10138529 10138833 SINE:AluJb 0 + 10138529 10138833 0,0,192 mobile_genetic_element direction; reverse 107303339|GeneID:107303339 direction; reverse -chr3 10138685 10138705 non_allelic_homologous 0 + 10138685 10138705 160,82,45 recombination_feature AluJb recombination sub-region, recombines with the AluYk3 recombination sub-region within the 3p25 VHL Alu-mediated recombination region 107303339|GeneID:107303339 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluJb recombination sub-region, recombines with the AluYk3 recombination sub-region within the 3p25 VHL Alu-mediated recombination region -chr3 10142338 10142643 SINE:AluSg 0 + 10142338 10142643 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10142362 10142614 non_allelic_homologous 0 + 10142362 10142614 160,82,45 recombination_feature AluSg recombination sub-region, recombines with the AluY recombination sub-region b within the 3p25 BRK1 Alu-mediated recombination region and the AluSx1 sub-region a, the AluYa5 sub-region, and the AluSz recombination sub-region b within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSg recombination sub-region, recombines with the AluY recombination sub-region b within the 3p25 BRK1 Alu-mediated recombination region and the AluSx1 sub-region a, the AluYa5 sub-region, and the AluSz recombination sub-region b within this recombination region -chr3 10143117 10143428 SINE:AluSx 0 + 10143117 10143428 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10143378 10143394 non_allelic_homologous 0 + 10143378 10143394 160,82,45 recombination_feature AluSx recombination sub-region a, recombines with the AluSx recombination sub-region c within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx recombination sub-region a, recombines with the AluSx recombination sub-region c within this recombination region -chr3 10143461 10143729 SINE:AluSc5 0 + 10143461 10143729 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10143465 10143467 non_allelic_homologous 0 + 10143465 10143467 160,82,45 recombination_feature AluSc5 recombination sub-region, recombines with the AluSx recombination sub-region c within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSc5 recombination sub-region, recombines with the AluSx recombination sub-region c within this recombination region -chr3 10144956 10145209 SINE:AluSx 0 + 10144956 10145209 0,0,192 mobile_genetic_element direction; forward 107303340|GeneID:107303340,7428|GeneID:7428 direction; forward -chr3 10145112 10145118 non_allelic_homologous 0 + 10145112 10145118 160,82,45 recombination_feature AluSx recombination sub-region b, recombines with the AluSz recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx recombination sub-region b, recombines with the AluSz recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10145423 10145735 SINE:AluY 0 + 10145423 10145735 0,0,192 mobile_genetic_element direction; forward 107303340|GeneID:107303340,7428|GeneID:7428 direction; forward -chr3 10145469 10145573 non_allelic_homologous 0 + 10145469 10145573 160,82,45 recombination_feature AluY recombination sub-region a, recombines with the AluY recombination sub-region a within the 3p25 BRK1 Alu-mediated recombination region, the AluY sub-region c within the 3p25 IRAK2 recombination region, and with the AluSq2 recombination sub-region within this recombination sub-region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region a, recombines with the AluY recombination sub-region a within the 3p25 BRK1 Alu-mediated recombination region, the AluY sub-region c within the 3p25 IRAK2 recombination region, and with the AluSq2 recombination sub-region within this recombination sub-region -chr3 10146173 10146473 SINE:AluY 0 + 10146173 10146473 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10146191 10146375 non_allelic_homologous 0 + 10146191 10146375 160,82,45 recombination_feature AluY recombination sub-region b, recombines with the AlusSc8 and AluYa5 recombination sub-regions within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region b, recombines with the AlusSc8 and AluYa5 recombination sub-regions within this recombination region -chr3 10147013 10147309 SINE:AluSc8 0 + 10147013 10147309 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10147054 10147211 non_allelic_homologous 0 + 10147054 10147211 160,82,45 recombination_feature AluSc8 recombination sub-region, recombines with the AluY recombination sub-region b and the AluSx1 recombination sub-region b within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSc8 recombination sub-region, recombines with the AluY recombination sub-region b and the AluSx1 recombination sub-region b within this recombination region -chr3 10147359 10147664 SINE:AluSx1 0 + 10147359 10147664 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10147617 10147635 non_allelic_homologous 0 + 10147617 10147635 160,82,45 recombination_feature AluSx1 recombination sub-region a, recombines with the AluSg recombination sub-region within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx1 recombination sub-region a, recombines with the AluSg recombination sub-region within this recombination region -chr3 10148310 10148613 SINE:AluYa5 0 + 10148310 10148613 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10148314 10148534 non_allelic_homologous 0 + 10148314 10148534 160,82,45 recombination_feature AluYa5 recombination sub-region, recombines with the AluY sub-region a within the 3p25 IRAK2 Alu-mediated recombination region, and the AluSc5, AluSg, and AluY sub-region b within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluYa5 recombination sub-region, recombines with the AluY sub-region a within the 3p25 IRAK2 Alu-mediated recombination region, and the AluSc5, AluSg, and AluY sub-region b within this recombination region -chr3 10148682 10148683 non_allelic_homologous 0 + 10148682 10148683 160,82,45 recombination_feature AluSx3 recombination sub-region, recombines with the AluSq2 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx3 recombination sub-region, recombines with the AluSq2 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10148682 10148972 SINE:AluSx3 0 + 10148682 10148972 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10149100 10149412 SINE:AluSx 0 + 10149100 10149412 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10149303 10149378 non_allelic_homologous 0 + 10149303 10149378 160,82,45 recombination_feature AluSx recombination sub-region c, recombines with the AluSx recombination sub-region a and the AluSz recombination sub-region a within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx recombination sub-region c, recombines with the AluSx recombination sub-region a and the AluSz recombination sub-region a within this recombination region -chr3 10149439 10149650 retrotransposon:MLT1H 0 + 10149439 10149650 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10149476 10149479 non_allelic_homologous 0 + 10149476 10149479 160,82,45 recombination_feature MLT1H recombination sub-region, recombines with the FLAM_C recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] MLT1H recombination sub-region, recombines with the FLAM_C recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10150882 10151180 SINE:AluSx1 0 + 10150882 10151180 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340,7428|GeneID:7428 direction; reverse -chr3 10150936 10150978 non_allelic_homologous 0 + 10150936 10150978 160,82,45 recombination_feature AluSx1 recombination sub-region b, recombines with the AluSc8 recombination sub-region within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx1 recombination sub-region b, recombines with the AluSc8 recombination sub-region within this recombination region -chr3 10152860 10152995 SINE:AluSq2 0 + 10152860 10152995 0,0,192 mobile_genetic_element direction; forward 107303340|GeneID:107303340,7428|GeneID:7428 direction; forward -chr3 10152906 10152908 non_allelic_homologous 0 + 10152906 10152908 160,82,45 recombination_feature AluSq2 recombination sub-region, recombines with the AluY recombination sub-region a within this recombination region 107303340|GeneID:107303340,7428|GeneID:7428 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSq2 recombination sub-region, recombines with the AluY recombination sub-region a within this recombination region -chr3 10157602 10157904 SINE:AluSz 0 + 10157602 10157904 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340 direction; reverse -chr3 10157796 10157803 non_allelic_homologous 0 + 10157796 10157803 160,82,45 recombination_feature AluSz recombination sub-region a, recombines with the AluSx recombination sub-region c within this recombination region 107303340|GeneID:107303340 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSz recombination sub-region a, recombines with the AluSx recombination sub-region c within this recombination region -chr3 10158137 10158449 SINE:AluYk3 0 + 10158137 10158449 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340 direction; reverse -chr3 10158302 10158321 non_allelic_homologous 0 + 10158302 10158321 160,82,45 recombination_feature AluYk3 recombination sub-region, recombines with the AluJb recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303340|GeneID:107303340 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluYk3 recombination sub-region, recombines with the AluJb recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10160041 10160352 SINE:AluSz 0 + 10160041 10160352 0,0,192 mobile_genetic_element direction; reverse 107303340|GeneID:107303340 direction; reverse -chr3 10160307 10160323 non_allelic_homologous 0 + 10160307 10160323 160,82,45 recombination_feature AluSz recombination sub-region b, recombines with the AluSg recombination sub-region within this recombination region 107303340|GeneID:107303340 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSz recombination sub-region b, recombines with the AluSg recombination sub-region within this recombination region -chr3 10160531 10170791 meiotic 0 + 10160531 10170791 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107303341|GeneID:107303341 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr3 10161266 10170495 meiotic 0 + 10161266 10170495 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107303341|GeneID:107303341 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr3 10163483 10163496 nucleotide_motif 0 + 10163483 10163496 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107303341|GeneID:107303341 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 10164642 10166539 meiotic 0 + 10164642 10166539 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/C genotypes 107303341|GeneID:107303341 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/C genotypes -chr3 10165296 10165309 nucleotide_motif 0 + 10165296 10165309 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107303341|GeneID:107303341,3656|GeneID:3656 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 10165721 10165948 SINE:AluY 0 + 10165721 10165948 0,0,192 mobile_genetic_element direction; reverse 107303341|GeneID:107303341,3656|GeneID:3656 direction; reverse -chr3 10165939 10165948 non_allelic_homologous 0 + 10165939 10165948 160,82,45 recombination_feature AluY recombination sub-region a, recombines with the AluYa5 recombination sub-region within the 3p25 VHL Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region a, recombines with the AluYa5 recombination sub-region within the 3p25 VHL Alu-mediated recombination region -chr3 10165972 10165988 nucleotide_motif 0 + 10165972 10165988 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107303341|GeneID:107303341,3656|GeneID:3656 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 10167414 10167714 SINE:AluY 0 + 10167414 10167714 0,0,192 mobile_genetic_element direction; reverse 107303341|GeneID:107303341,3656|GeneID:3656 direction; reverse -chr3 10167673 10167703 non_allelic_homologous 0 + 10167673 10167703 160,82,45 recombination_feature AluY recombination sub-region b, recombines with the AluY recombination sub-region b within the 3p25 BRK1 Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region b, recombines with the AluY recombination sub-region b within the 3p25 BRK1 Alu-mediated recombination region -chr3 10170540 10170556 nucleotide_motif 0 + 10170540 10170556 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107303341|GeneID:107303341,3656|GeneID:3656 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 10171769 10171955 SINE:AluSg 0 + 10171769 10171955 0,0,192 mobile_genetic_element direction; reverse 107303341|GeneID:107303341,3656|GeneID:3656 direction; reverse -chr3 10171868 10171873 non_allelic_homologous 0 + 10171868 10171873 160,82,45 recombination_feature AluSg recombination sub-region, recombines with the AluSx3 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSg recombination sub-region, recombines with the AluSx3 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10175608 10175918 SINE:AluY 0 + 10175608 10175918 0,0,192 mobile_genetic_element direction; forward 107303341|GeneID:107303341,3656|GeneID:3656 direction; forward -chr3 10175747 10175757 non_allelic_homologous 0 + 10175747 10175757 160,82,45 recombination_feature AluY recombination sub-region c, recombines with the AluY recombination sub-region a within the 3p25 VHL Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region c, recombines with the AluY recombination sub-region a within the 3p25 VHL Alu-mediated recombination region -chr3 10182274 10182580 SINE:AluY 0 + 10182274 10182580 0,0,192 mobile_genetic_element direction; reverse 107303341|GeneID:107303341,3656|GeneID:3656 direction; reverse -chr3 10182414 10182430 non_allelic_homologous 0 + 10182414 10182430 160,82,45 recombination_feature AluY recombination sub-region d, recombines with the AluY recombination sub-region b within the 3p25 FANCD2 Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region d, recombines with the AluY recombination sub-region b within the 3p25 FANCD2 Alu-mediated recombination region -chr3 10184191 10185172 meiotic 0 + 10184191 10185172 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype 107303341|GeneID:107303341,3656|GeneID:3656 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype -chr3 10184975 10184988 nucleotide_motif 0 + 10184975 10184988 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107303341|GeneID:107303341,3656|GeneID:3656 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr3 10191012 10191307 SINE:AluYm1 0 + 10191012 10191307 0,0,192 mobile_genetic_element direction; forward 107303341|GeneID:107303341,3656|GeneID:3656 direction; forward -chr3 10191272 10191293 non_allelic_homologous 0 + 10191272 10191293 160,82,45 recombination_feature AluYm1 recombination sub-region, recombines with the AluY recombination sub-region a within the 3p25 FANCD2 Alu-mediated recombination region and the AluSq2 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluYm1 recombination sub-region, recombines with the AluY recombination sub-region a within the 3p25 FANCD2 Alu-mediated recombination region and the AluSq2 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10197917 10198200 SINE:AluY 0 + 10197917 10198200 0,0,192 mobile_genetic_element direction; forward 107303341|GeneID:107303341,3656|GeneID:3656 direction; forward -chr3 10198016 10198025 non_allelic_homologous 0 + 10198016 10198025 160,82,45 recombination_feature AluY recombination sub-region e, recombines with the AluYm1 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluY recombination sub-region e, recombines with the AluYm1 recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 10198876 10201593 meiotic 0 + 10198876 10201593 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107303341|GeneID:107303341,3656|GeneID:3656 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr3 10199480 10199496 nucleotide_motif 0 + 10199480 10199496 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107303341|GeneID:107303341,3656|GeneID:3656 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 10199538 10201616 meiotic 0 + 10199538 10201616 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107303341|GeneID:107303341,3656|GeneID:3656 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr3 10199884 10200187 SINE:AluSx 0 + 10199884 10200187 0,0,192 mobile_genetic_element direction; reverse 107303341|GeneID:107303341,3656|GeneID:3656 direction; reverse -chr3 10199981 10200013 non_allelic_homologous 0 + 10199981 10200013 160,82,45 recombination_feature AluSx recombination sub-region, recombines with the AluSx recombination sub-region within the 3p25 PRRT3 Alu-mediated recombination region 107303341|GeneID:107303341,3656|GeneID:3656 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx recombination sub-region, recombines with the AluSx recombination sub-region within the 3p25 PRRT3 Alu-mediated recombination region -chr3 10200239 10201782 meiotic 0 + 10200239 10201782 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 107303341|GeneID:107303341,3656|GeneID:3656 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr3 10253582 10255459 meiotic 0 + 10253582 10255459 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107303342|GeneID:107303342,9797|GeneID:9797 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr3 10254980 10254996 nucleotide_motif 0 + 10254980 10254996 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107303342|GeneID:107303342,9797|GeneID:9797 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr3 10257348 10257598 SINE:AluSx 0 + 10257348 10257598 0,0,192 mobile_genetic_element direction; forward 107303342|GeneID:107303342,9797|GeneID:9797 direction; forward -chr3 10257429 10257450 non_allelic_homologous 0 + 10257429 10257450 160,82,45 recombination_feature AluSx recombination sub-region, recombines with the AluSx1 recombination sub-region within the 3p25 FANCD2 Alu-mediated recombination region 107303342|GeneID:107303342,9797|GeneID:9797 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] AluSx recombination sub-region, recombines with the AluSx1 recombination sub-region within the 3p25 FANCD2 Alu-mediated recombination region -chr3 10263863 10267088 meiotic 0 + 10263863 10267088 160,82,45 recombination_feature HapMap CEU population data shows a slight increase in recombination rates in this region 107303342|GeneID:107303342,9797|GeneID:9797 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] HapMap CEU population data shows a slight increase in recombination rates in this region -chr3 10263863 10267423 meiotic 0 + 10263863 10267423 160,82,45 recombination_feature HapMap YRI population data shows a slight increase in recombination rates in this region 107303342|GeneID:107303342,9797|GeneID:9797 20981099|PMID:20981099 DESCRIPTION:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] HapMap YRI population data shows a slight increase in recombination rates in this region -chr3 10266219 10268422 meiotic 0 + 10266219 10268422 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107303342|GeneID:107303342,9797|GeneID:9797 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr3 10272076 10272080 non_allelic_homologous 0 + 10272076 10272080 160,82,45 recombination_feature NAHR recombination sub-region b, recombines with the LTR12C recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region 107303342|GeneID:107303342,9797|GeneID:9797 19280651|PMID:19280651 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19280651] NAHR recombination sub-region b, recombines with the LTR12C recombination sub-region within the 3p25 BRK1 Alu-mediated recombination region -chr3 13451610 13452192 enhancer 0 + 13451610 13452192 0,128,128 enhancer amplified fragment containing the chr3:13493281-13493606 (GRCh37) CAGE region 108254666|GeneID:108254666 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr3:13493281-13493606 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr3 13451780 13452106 CAGE_cluster 0 + 13451780 13452106 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254666|GeneID:108254666 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr3 14774744 14776723 meiotic 0 + 14774744 14776723 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457584|GeneID:107457584 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr3 14774744 14777002 meiotic 0 + 14774744 14777002 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457584|GeneID:107457584 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr3 14775155 14777347 meiotic 0 + 14775155 14777347 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM A/B and PRDM9 A/C genotypes 107457584|GeneID:107457584 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM A/B and PRDM9 A/C genotypes -chr3 14775719 14776919 meiotic 0 + 14775719 14776919 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107457584|GeneID:107457584 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr3 18127869 18128745 enhancer 0 + 18127869 18128745 0,128,128 enhancer VISTA enhancer hs250 110120630|GeneID:110120630,339862|GeneID:339862 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/12] VISTA enhancer hs250 | enhancer in: heart[5/12] -chr3 25617731 25617735 mitotic 0 + 25617731 25617735 160,82,45 recombination_feature NUP98-TOP2B recombination region recombines with the NUP98 intron 13 (TOP2B) recombination sub-region of the nucleoporin 98kDa recombination region 107133518|GeneID:107133518 16166424|PMID:16166424 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:16166424] NUP98-TOP2B recombination region recombines with the NUP98 intron 13 (TOP2B) recombination sub-region of the nucleoporin 98kDa recombination region -chr3 27992336 27994260 enhancer 0 + 27992336 27994260 0,128,128 enhancer VISTA enhancer hs1557 110121143|GeneID:110121143 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[6/8] | forebrain[8/8] | trigeminal V (ganglion, cranial)[8/8] VISTA enhancer hs1557 | enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[6/8] | forebrain[8/8] | trigeminal V (ganglion, cranial)[8/8] -chr3 37764507 37767589 enhancer 0 + 37764507 37767589 0,128,128 enhancer VISTA enhancer hs1961 110121232|GeneID:110121232,3680|GeneID:3680 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[11/14] VISTA enhancer hs1961 | enhancer in: neural tube[11/14] -chr3 38531395 38534541 enhancer 0 + 38531395 38534541 0,128,128 enhancer VISTA enhancer hs2266 110121286|GeneID:110121286 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/10] VISTA enhancer hs2266 | enhancer in: heart[7/10] -chr3 38542666 38545253 enhancer 0 + 38542666 38545253 0,128,128 enhancer VISTA enhancer hs2267 110121287|GeneID:110121287 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/6] VISTA enhancer hs2267 | enhancer in: other[4/6] -chr3 38578361 38581496 enhancer 0 + 38578361 38581496 0,128,128 enhancer VISTA enhancer hs2177 110121269|GeneID:110121269 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[12/13] VISTA enhancer hs2177 | enhancer in: heart[12/13] -chr3 38722135 38726916 enhancer 0 + 38722135 38726916 0,128,128 enhancer VISTA enhancer hs2268 110121288|GeneID:110121288 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/5] | trigeminal V (ganglion, cranial)[5/5] VISTA enhancer hs2268 | enhancer in: dorsal root ganglion[4/5] | trigeminal V (ganglion, cranial)[5/5] -chr3 50599046 50602727 enhancer 0 + 50599046 50602727 0,128,128 enhancer VISTA enhancer hs1747 110121200|GeneID:110121200 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[7/12] VISTA enhancer hs1747 | enhancer in: heart[7/12] -chr3 52427965 52431115 enhancer 0 + 52427965 52431115 0,128,128 enhancer VISTA enhancer hs2179 110121270|GeneID:110121270 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[5/7] VISTA enhancer hs2179 | enhancer in: blood vessels[5/7] -chr3 54983447 54984533 enhancer 0 + 54983447 54984533 0,128,128 enhancer VISTA enhancer hs1436 110121103|GeneID:110121103,55799|GeneID:55799 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/12] | limb[11/12] VISTA enhancer hs1436 | enhancer in: hindbrain (rhombencephalon)[6/12] | limb[11/12] -chr3 55490514 55492232 enhancer 0 + 55490514 55492232 0,128,128 enhancer VISTA enhancer hs1472 110121117|GeneID:110121117 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[11/12] VISTA enhancer hs1472 | enhancer in: tail[11/12] -chr3 57959776 57960334 enhancer 0 + 57959776 57960334 0,128,128 enhancer amplified fragment containing the chr3:57945627-57945950 (GRCh37) CAGE region 108281142|GeneID:108281142,105377104|GeneID:105377104 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr3:57945627-57945950 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr3 57959899 57960223 CAGE_cluster 0 + 57959899 57960223 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281142|GeneID:108281142,105377104|GeneID:105377104 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr3 57974820 57975115 CAGE_cluster 0 + 57974820 57975115 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281136|GeneID:108281136,105377104|GeneID:105377104 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr3 57974825 57975362 enhancer 0 + 57974825 57975362 0,128,128 enhancer amplified fragment containing most of the chr3:57960548-57960842 (GRCh37) CAGE region 108281136|GeneID:108281136,105377104|GeneID:105377104 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HepG2 cells amplified fragment containing most of the chr3:57960548-57960842 (GRCh37) CAGE region | low expression transcribed enhancer in HepG2 cells -chr3 60475684 60478681 rep_origin: Ori 1 0 + 60475684 60478681 0,0,0 origin_of_replication Ori 1; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 1; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA -chr3 60475979 60476106 rep_origin: Ori 1 0 + 60475979 60476106 0,0,0 origin_of_replication Ori 1; amplicon 3; peak of nascent strand synthesis determined by quantitative PCR of labeled, size-fractionated nascent DNA 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 1; amplicon 3; peak of nascent strand synthesis determined by quantitative PCR of labeled, size-fractionated nascent DNA -chr3 60487040 60489997 rep_origin: Ori 2 0 + 60487040 60489997 0,0,0 origin_of_replication Ori 2; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 2; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA -chr3 60487904 60489370 rep_origin: Ori 2 0 + 60487904 60489370 0,0,0 origin_of_replication Ori 2; amplicons 5-7; peak of nascent strand synthesis determined by quantitative PCR of labeled, size-fractionated nascent DNA 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 2; amplicons 5-7; peak of nascent strand synthesis determined by quantitative PCR of labeled, size-fractionated nascent DNA -chr3 60501429 60502516 rep_origin: Ori 3 0 + 60501429 60502516 0,0,0 origin_of_replication Ori 3; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 3; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA -chr3 60501930 60502859 rep_origin: Ori 3 0 + 60501930 60502859 0,0,0 origin_of_replication Ori 3; amplicons 3-6; peak of nascent strand synthesis determined by quantitative PCR of labeled, size-fractionated nascent DNA 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 3; amplicons 3-6; peak of nascent strand synthesis determined by quantitative PCR of labeled, size-fractionated nascent DNA -chr3 60505666 60507048 rep_origin: Ori 4 0 + 60505666 60507048 0,0,0 origin_of_replication Ori 4; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA from APH-treated cells 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 4; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA from APH-treated cells -chr3 60509876 60510714 rep_origin: Ori 4 0 + 60509876 60510714 0,0,0 origin_of_replication Ori 4; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA from APH-treated cells 107325936|GeneID:107325936 19815620|PMID:19815620 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:19815620] Ori 4; region of peak nascent strand synthesis determined by microarray hybridization of labeled, size-fractionated nascent DNA from APH-treated cells -chr3 62365050 62366043 enhancer 0 + 62365050 62366043 0,128,128 enhancer VISTA enhancer hs434 110120681|GeneID:110120681 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs434 | enhancer in: forebrain[4/4] -chr3 62374190 62374896 enhancer 0 + 62374190 62374896 0,128,128 enhancer VISTA enhancer hs435 110120682|GeneID:110120682 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/3] | forebrain[3/3] VISTA enhancer hs435 | enhancer in: midbrain (mesencephalon)[3/3] | forebrain[3/3] -chr3 62420141 62422424 enhancer 0 + 62420141 62422424 0,128,128 enhancer VISTA enhancer hs1316 110121053|GeneID:110121053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[11/11] VISTA enhancer hs1316 | enhancer in: forebrain[11/11] -chr3 63687151 63689110 enhancer 0 + 63687151 63689110 0,128,128 enhancer VISTA enhancer hs1387 110121087|GeneID:110121087 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[5/11] | tail[9/11] VISTA enhancer hs1387 | enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[5/11] | tail[9/11] -chr3 63912684 63912716 tandem 0 + 63912684 63912716 0,0,192 repeat_region 108660406|GeneID:108660406,6314|GeneID:6314 repeat_region -chr3 63912685 63912715 repeat_instability_region 0 + 63912685 63912715 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with spinocerebellar ataxia type 7 108660406|GeneID:108660406,6314|GeneID:6314 9288099|PMID:9288099 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9288099] repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with spinocerebellar ataxia type 7 -chr3 68064254 68065171 enhancer 0 + 68064254 68065171 0,128,128 enhancer chr3 POU3F2 HCT in FAM19A1 intron 108167314|GeneID:108167314,407738|GeneID:407738 20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20363979] HCT enhancer chr3 POU3F2 HCT in FAM19A1 intron | HCT enhancer -chr3 68064551 68064629 conserved_region 0 + 68064551 68064629 192,0,192 sequence_feature conserved region; HCT with multiple POU3F2 binding motifs 108167314|GeneID:108167314,407738|GeneID:407738 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple POU3F2 binding motifs -chr3 69737257 69739600 promoter 0 + 69737257 69739600 0,128,128 promoter -2233 to +119 fragment for MITF-A promoter 107988042|GeneID:107988042 10760582|PMID:10760582 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10760582] -2233 to +119 fragment for MITF-A promoter -chr3 69738981 69739023 protein_bind: paired box 2 0 + 69738981 69739023 192,0,0 protein_binding_site PAX site A5 107988042|GeneID:107988042 12756174|PMID:12756174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12756174] positive regulation of transcription PAX site A5 | positive regulation of transcription | paired box 2 -chr3 69738981 69739023 protein_bind: paired box 6 0 + 69738981 69739023 192,0,0 protein_binding_site PAX site A5 107988042|GeneID:107988042 12756174|PMID:12756174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12756174] positive regulation of transcription PAX site A5 | positive regulation of transcription | paired box 6 -chr3 69864075 69866278 promoter 0 + 69864075 69866278 0,128,128 promoter -2153 to +48 fragment for MITF-H promoter 107988044|GeneID:107988044,4286|GeneID:4286 10760582|PMID:10760582 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10760582] promoter in D407 retinal pigment epithelial cells -2153 to +48 fragment for MITF-H promoter | promoter in D407 retinal pigment epithelial cells -chr3 69866091 69866193 transcriptional_cis_regulatory_region 0 + 69866091 69866193 0,128,128 region -139 to -36 107988044|GeneID:107988044,4286|GeneID:4286 10760582|PMID:10760582 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10760582] positive regulation of transcription -139 to -36 | positive regulation of transcription -chr3 69922034 69923440 enhancer 0 + 69922034 69923440 0,128,128 enhancer SacI/SmaI fragment 107988038|GeneID:107988038,4286|GeneID:4286 12028584|PMID:12028584 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12028584] SacI/SmaI fragment -chr3 69922489 69922786 enhancer 0 + 69922489 69922786 0,128,128 enhancer -14.8 to -14.3 core enhancer 107988038|GeneID:107988038,4286|GeneID:4286 12028584|PMID:12028584 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12028584] -14.8 to -14.3 core enhancer -chr3 69922756 69922786 protein_bind: SRY-box 10 0 + 69922756 69922786 192,0,0 protein_binding_site SOX10 sites S2/S1 107988038|GeneID:107988038,4286|GeneID:4286 12028584|PMID:12028584 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12028584] promotes enhancer activity SOX10 sites S2/S1 | promotes enhancer activity | SRY-box 10 -chr3 69934397 69934427 protein_bind: one cut homeobox 2 0 + 69934397 69934427 192,0,0 protein_binding_site OC2 site MITF-D 107988030|GeneID:107988030,4286|GeneID:4286 11478782|PMID:11478782 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11478782] positive regulation of transcription OC2 site MITF-D | positive regulation of transcription | one cut homeobox 2 -chr3 69934445 69936205 transcriptional_cis_regulatory_region 0 + 69934445 69936205 0,128,128 region BamHI/PstI fragment from -2.3 kb to -382 107988030|GeneID:107988030,4286|GeneID:4286 8645245|PMID:8645245 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8645245] contains multiple sequences important for expression in MeWo melanoma cells BamHI/PstI fragment from -2.3 kb to -382 | contains multiple sequences important for expression in MeWo melanoma cells -chr3 69934445 69936685 promoter 0 + 69934445 69936685 0,128,128 promoter BamHI/AccI fragment for -2.3 kb MITF-M promoter 107988030|GeneID:107988030,4286|GeneID:4286 8645245|PMID:8645245,10760582|PMID:10760582 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8645245, PMID:10760582] active promoter in MeWo and HMV-II melanoma cells BamHI/AccI fragment for -2.3 kb MITF-M promoter | active promoter in MeWo and HMV-II melanoma cells -chr3 69936295 69936315 protein_bind: SRY-box 10 0 + 69936295 69936315 192,0,0 protein_binding_site SOX10 site 4; range includes SX2 107988030|GeneID:107988030,4286|GeneID:4286 10942418|PMID:10942418,10982026|PMID:10982026 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10942418, PMID:10982026] SOX10 site 4; range includes SX2 | SRY-box 10 -chr3 69936315 69936328 protein_bind: SRY-box 10 0 + 69936315 69936328 192,0,0 protein_binding_site SOX10 binding site 5; also known as site B or SX3 107988030|GeneID:107988030,4286|GeneID:4286 10938265|PMID:10938265,10942418|PMID:10942418,10973953|PMID:10973953,10982026|PMID:10982026 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10938265, PMID:10942418, PMID:10973953, PMID:10982026] may synergize with Pax3 to positively regulate transcription; required for response to cAMP; may be antagonized by Sox5 competing for binding SOX10 binding site 5; also known as site B or SX3 | may synergize with Pax3 to positively regulate transcription; required for response to cAMP; may be antagonized by Sox5 competing for binding | SRY-box 10 -chr3 69936322 69936348 protein_bind: paired box 3 0 + 69936322 69936348 192,0,0 protein_binding_site PAX3 site 107988030|GeneID:107988030,4286|GeneID:4286 9500554|PMID:9500554 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9500554] positive regulation of transcription PAX3 site | positive regulation of transcription | paired box 3 -chr3 69936349 69936379 protein_bind: SRY-box 10 0 + 69936349 69936379 192,0,0 protein_binding_site SOX10 site C/D; also known as site 6 107988030|GeneID:107988030,4286|GeneID:4286 10942418|PMID:10942418,10973953|PMID:10973953 DESCRIPTION:protein binding evidence [ECO:0000024][PMID:10942418, PMID:10973953] SOX10 site C/D; also known as site 6 | SRY-box 10 -chr3 69936360 69936402 protein_bind: lymphoid enhancer binding factor 1 0 + 69936360 69936402 192,0,0 protein_binding_site LEF-1-binding sites (LBS); includes LBS195, LBS201, LBS218 107988030|GeneID:107988030,4286|GeneID:4286 10747853|PMID:10747853,12048204|PMID:12048204 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10747853, PMID:12048204] mediates induction by Wnt signalling; forms complex with Mitf-M and Ctnnb1 LEF-1-binding sites (LBS); includes LBS195, LBS201, LBS218 | mediates induction by Wnt signalling; forms complex with Mitf-M and Ctnnb1 | lymphoid enhancer binding factor 1 -chr3 69936378 69936397 protein_bind: SRY-box 10 0 + 69936378 69936397 192,0,0 protein_binding_site SOX10 site 7/8 107988030|GeneID:107988030,4286|GeneID:4286 10942418|PMID:10942418 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10942418] SOX10 site 7/8 | SRY-box 10 -chr3 69936433 69936453 protein_bind: cAMP responsive element binding protein 1 0 + 69936433 69936453 192,0,0 protein_binding_site CRE 107988030|GeneID:107988030,4286|GeneID:4286 9700169|PMID:9700169 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9700169] mediates induction by cAMP CRE | mediates induction by cAMP | cAMP responsive element binding protein 1 -chr3 69936449 69936479 protein_bind: one cut homeobox 2 0 + 69936449 69936479 192,0,0 protein_binding_site OC2 site MITF-P 107988030|GeneID:107988030,4286|GeneID:4286 11478782|PMID:11478782 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11478782] OC2 site MITF-P | one cut homeobox 2 -chr3 69936532 69936559 protein_bind: POU class 3 homeobox 2 0 + 69936532 69936559 192,0,0 protein_binding_site BRN2 site 107988030|GeneID:107988030,4286|GeneID:4286 18628967|PMID:18628967,18829533|PMID:18829533 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18628967, PMID:18829533] BRN2 site | POU class 3 homeobox 2 -chr3 69936706 69936727 protein_bind: SRY-box 10 0 + 69936706 69936727 192,0,0 protein_binding_site SOX10 site F 107988030|GeneID:107988030,4286|GeneID:4286 10973953|PMID:10973953 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10973953] SOX10 site F | SRY-box 10 -chr3 70985237 70986279 enhancer 0 + 70985237 70986279 0,128,128 enhancer VISTA enhancer hs864 110120791|GeneID:110120791 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/9] VISTA enhancer hs864 | enhancer in: heart[4/9] -chr3 71050005 71051700 enhancer 0 + 71050005 71051700 0,128,128 enhancer VISTA enhancer hs965 110120812|GeneID:110120812 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/7] | other[6/7] VISTA enhancer hs965 | enhancer in: limb[5/7] | other[6/7] -chr3 71104404 71105902 enhancer 0 + 71104404 71105902 0,128,128 enhancer VISTA enhancer hs1092 110120986|GeneID:110120986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs1092 | enhancer in: forebrain[4/5] -chr3 71228160 71229805 enhancer 0 + 71228160 71229805 0,128,128 enhancer VISTA enhancer hs630 110120720|GeneID:110120720 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/7] VISTA enhancer hs630 | enhancer in: neural tube[3/7] -chr3 71241266 71243433 enhancer 0 + 71241266 71243433 0,128,128 enhancer VISTA enhancer hs187 110120604|GeneID:110120604 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/9] VISTA enhancer hs187 | enhancer in: forebrain[8/9] -chr3 71397675 71399658 enhancer 0 + 71397675 71399658 0,128,128 enhancer VISTA enhancer hs1116 110120994|GeneID:110120994 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[4/7] VISTA enhancer hs1116 | enhancer in: facial mesenchyme[4/7] -chr3 71524455 71525389 enhancer 0 + 71524455 71525389 0,128,128 enhancer VISTA enhancer hs1149 110121007|GeneID:110121007 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/10] VISTA enhancer hs1149 | enhancer in: neural tube[5/10] -chr3 78993127 78995903 enhancer 0 + 78993127 78995903 0,128,128 enhancer VISTA enhancer hs1475 110121119|GeneID:110121119 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/5] | branchial arch[5/5] | tail[5/5] VISTA enhancer hs1475 | enhancer in: limb[5/5] | branchial arch[5/5] | tail[5/5] -chr3 80547550 80555612 enhancer 0 + 80547550 80555612 0,128,128 enhancer VISTA enhancer hs1995 110121240|GeneID:110121240 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[5/7] VISTA enhancer hs1995 | enhancer in: facial mesenchyme[5/7] -chr3 94332173 94334985 enhancer 0 + 94332173 94334985 0,128,128 enhancer VISTA enhancer hs1462 110121113|GeneID:110121113 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/9] VISTA enhancer hs1462 | enhancer in: limb[5/9] -chr3 102667317 102669538 enhancer 0 + 102667317 102669538 0,128,128 enhancer VISTA enhancer hs1469 110121116|GeneID:110121116 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[3/5] VISTA enhancer hs1469 | enhancer in: somite[3/5] -chr3 112419745 112419895 retrotransposon:HERVH-int 0 + 112419745 112419895 0,0,192 mobile_genetic_element direction; reverse 108004531|GeneID:108004531 direction; reverse -chr3 112419838 112419960 non_allelic_homologous 0 + 112419838 112419960 160,82,45 recombination_feature patient 5 3q13.2 recombination breakpoint sub-region, recombines with the patient 5 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 5 3q13.2 recombination breakpoint sub-region, recombines with the patient 5 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 112419874 112422911 retrotransposon:HERVH-int 0 + 112419874 112422911 0,0,192 mobile_genetic_element direction; reverse 108004531|GeneID:108004531 direction; reverse -chr3 112419959 112420012 non_allelic_homologous 0 + 112419959 112420012 160,82,45 recombination_feature patient 2 and 7 3q13.2 recombination breakpoint sub-region, recombines with the patient 2 and 7 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 2 and 7 3q13.2 recombination breakpoint sub-region, recombines with the patient 2 and 7 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 112420175 112420230 non_allelic_homologous 0 + 112420175 112420230 160,82,45 recombination_feature patient 1 3q13.2 recombination breakpoint sub-region, recombines with the patient 1 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 1 3q13.2 recombination breakpoint sub-region, recombines with the patient 1 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 112420462 112420491 non_allelic_homologous 0 + 112420462 112420491 160,82,45 recombination_feature patient 3 3q13.2 recombination breakpoint sub-region, recombines with the patient 3 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 3 3q13.2 recombination breakpoint sub-region, recombines with the patient 3 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 112420521 112420588 non_allelic_homologous 0 + 112420521 112420588 160,82,45 recombination_feature patient 8 3q13.2 recombination breakpoint sub-region, recombines with the patient 8 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 8 3q13.2 recombination breakpoint sub-region, recombines with the patient 8 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 112420705 112420764 non_allelic_homologous 0 + 112420705 112420764 160,82,45 recombination_feature patient 4 3q13.2 recombination breakpoint sub-region, recombines with the patient 4 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 4 3q13.2 recombination breakpoint sub-region, recombines with the patient 4 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 112421129 112421139 non_allelic_homologous 0 + 112421129 112421139 160,82,45 recombination_feature patient 9 3q13.2 recombination breakpoint sub-region, recombines with the patient 9 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion 108004531|GeneID:108004531 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 9 3q13.2 recombination breakpoint sub-region, recombines with the patient 9 3q13.31 recombination breakpoint sub-region within the 3q13.2-q13.31 distal HERV-H recombination region, resulting in a deletion -chr3 113092646 113097560 enhancer 0 + 113092646 113097560 0,128,128 enhancer VISTA enhancer hs1685 110121187|GeneID:110121187 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/14] | hindbrain (rhombencephalon)[10/14] | midbrain (mesencephalon)[12/14] | forebrain[9/14] | limb[7/14] | eye[11/14] | facial mesenchyme[3/14] VISTA enhancer hs1685 | enhancer in: neural tube[10/14] | hindbrain (rhombencephalon)[10/14] | midbrain (mesencephalon)[12/14] | forebrain[9/14] | limb[7/14] | eye[11/14] | facial mesenchyme[3/14] -chr3 114714336 114716568 enhancer 0 + 114714336 114716568 0,128,128 enhancer VISTA enhancer hs253 110120631|GeneID:110120631 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[6/8] VISTA enhancer hs253 | enhancer in: somite[6/8] -chr3 115217482 115219382 enhancer 0 + 115217482 115219382 0,128,128 enhancer VISTA enhancer hs1648 110121175|GeneID:110121175,101926886|GeneID:101926886 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] VISTA enhancer hs1648 | enhancer in: midbrain (mesencephalon)[4/5] -chr3 115795687 115795834 retrotransposon:HERVH-int 0 + 115795687 115795834 0,0,192 mobile_genetic_element direction; reverse 108004532|GeneID:108004532 direction; reverse -chr3 115795777 115795899 non_allelic_homologous 0 + 115795777 115795899 160,82,45 recombination_feature patient 5 3q13.31 recombination breakpoint sub-region, recombines with the patient 5 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 5 3q13.31 recombination breakpoint sub-region, recombines with the patient 5 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 115795813 115798714 retrotransposon:HERVH-int 0 + 115795813 115798714 0,0,192 mobile_genetic_element direction; reverse 108004532|GeneID:108004532 direction; reverse -chr3 115795898 115795951 non_allelic_homologous 0 + 115795898 115795951 160,82,45 recombination_feature patient 2 and 7 3q13.31 recombination breakpoint sub-region, recombines with the patient 2 and 7 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 2 and 7 3q13.31 recombination breakpoint sub-region, recombines with the patient 2 and 7 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 115796113 115796169 non_allelic_homologous 0 + 115796113 115796169 160,82,45 recombination_feature patient 1 3q13.31 recombination breakpoint sub-region, recombines with the patient 1 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 1 3q13.31 recombination breakpoint sub-region, recombines with the patient 1 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 115796213 115796241 non_allelic_homologous 0 + 115796213 115796241 160,82,45 recombination_feature patient 3 3q13.31 recombination breakpoint sub-region, recombines with the patient 3 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 3 3q13.31 recombination breakpoint sub-region, recombines with the patient 3 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 115796272 115796339 non_allelic_homologous 0 + 115796272 115796339 160,82,45 recombination_feature patient 8 3q13.31 recombination breakpoint sub-region, recombines with the patient 8 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 8 3q13.31 recombination breakpoint sub-region, recombines with the patient 8 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 115796456 115796515 non_allelic_homologous 0 + 115796456 115796515 160,82,45 recombination_feature patient 4 3q13.31 recombination breakpoint sub-region, recombines with the patient 4 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 4 3q13.31 recombination breakpoint sub-region, recombines with the patient 4 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 115796880 115796890 non_allelic_homologous 0 + 115796880 115796890 160,82,45 recombination_feature patient 9 3q13.31 recombination breakpoint sub-region, recombines with the patient 9 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion 108004532|GeneID:108004532 23878096|PMID:23878096 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23878096] patient 9 3q13.31 recombination breakpoint sub-region, recombines with the patient 9 3q13.13 recombination breakpoint sub-region within the 3q13.2-q13.31 proximal HERV-H recombination region, resulting in a deletion -chr3 127746652 127747164 enhancer 0 + 127746652 127747164 0,128,128 enhancer amplified fragment containing the FANTOM5 chr3:127465577-127465875 (GRCh37) CAGE region 108192211|GeneID:108192211 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the FANTOM5 chr3:127465577-127465875 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr3 127746733 127747032 CAGE_cluster 0 + 127746733 127747032 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108192211|GeneID:108192211 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr3 129172572 129172732 nucleotide_motif 0 + 129172572 129172732 192,0,192 sequence_feature nucleotide_motif; DM2 repeat, (TG)18(TCTG)10(CCTG)8GCTG(CCTG)TCTG(CCTG)TCTG(CCTG)7TCTG region found on the minus strand relative to the reference genome 108644431|GeneID:108644431 22723857|PMID:22723857 COORDINATES:manual assertion [ECO:0000218][PMID:22723857] nucleotide_motif; DM2 repeat, (TG)18(TCTG)10(CCTG)8GCTG(CCTG)TCTG(CCTG)TCTG(CCTG)7TCTG region found on the minus strand relative to the reference genome -chr3 129172576 129172659 tandem 0 + 129172576 129172659 0,0,192 repeat_region 108644431|GeneID:108644431 repeat_region -chr3 129172624 129172656 repeat_instability_region 0 + 129172624 129172656 192,0,192 sequence_feature repeat instability region; expansion of the (CCTG)n tetrancucleotide repeat (CAGG on the opposite strand) is associated with myotonic dystrophy type 2 108644431|GeneID:108644431 11486088|PMID:11486088 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:11486088] repeat instability region; expansion of the (CCTG)n tetrancucleotide repeat (CAGG on the opposite strand) is associated with myotonic dystrophy type 2 -chr3 129172659 129172695 tandem 0 + 129172659 129172695 0,0,192 repeat_region 108644431|GeneID:108644431 repeat_region -chr3 129172695 129172733 tandem 0 + 129172695 129172733 0,0,192 repeat_region 108644431|GeneID:108644431 repeat_region -chr3 129526729 129526833 conserved_region 0 + 129526729 129526833 192,0,192 sequence_feature conserved region; well-conserved RER sequence with enhancer function for the orthologous bovine sequence 107966124|GeneID:107966124 8576239|PMID:8576239,24301678|PMID:24301678 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:8576239, PMID:24301678] conserved region; well-conserved RER sequence with enhancer function for the orthologous bovine sequence -chr3 129526762 129526806 conserved_region 0 + 129526762 129526806 192,0,192 sequence_feature conserved region; region of homology to the red/green opsin LCR 37 bp core 107966124|GeneID:107966124 8576239|PMID:8576239 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:8576239] conserved region; region of homology to the red/green opsin LCR 37 bp core -chr3 137263864 137265333 enhancer 0 + 137263864 137265333 0,128,128 enhancer VISTA enhancer hs208 110120612|GeneID:110120612 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[8/10] VISTA enhancer hs208 | enhancer in: limb[8/10] -chr3 137328701 137330429 enhancer 0 + 137328701 137330429 0,128,128 enhancer VISTA enhancer hs209 110120613|GeneID:110120613 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/8] VISTA enhancer hs209 | enhancer in: midbrain (mesencephalon)[6/8] -chr3 137348779 137350083 enhancer 0 + 137348779 137350083 0,128,128 enhancer VISTA enhancer hs210 110120614|GeneID:110120614 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/4] VISTA enhancer hs210 | enhancer in: hindbrain (rhombencephalon)[3/4] -chr3 137467121 137468024 enhancer 0 + 137467121 137468024 0,128,128 enhancer VISTA enhancer hs653 110120732|GeneID:110120732 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/5] VISTA enhancer hs653 | enhancer in: forebrain[5/5] -chr3 137763409 137764741 promoter 0 + 137763409 137764741 0,128,128 promoter PstI fragment from -1123 to +201 108281117|GeneID:108281117 15451172|PMID:15451172 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15451172] PstI fragment from -1123 to +201 -chr3 137764063 137764741 promoter 0 + 137764063 137764741 0,128,128 promoter XbaI/PstI fragment from -470 to +201; core promoter 108281117|GeneID:108281117 15451172|PMID:15451172 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15451172] XbaI/PstI fragment from -470 to +201; core promoter -chr3 137764152 137764255 protein_bind: nuclear transcription factor Y 0 + 137764152 137764255 192,0,0 protein_binding_site F23/R20 amplicon 108281117|GeneID:108281117 15451172|PMID:15451172 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15451172] F23/R20 amplicon | nuclear transcription factor Y -chr3 137920068 137921266 enhancer 0 + 137920068 137921266 0,128,128 enhancer VISTA enhancer hs843 110120785|GeneID:110120785 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[3/4] | nose[3/4] VISTA enhancer hs843 | enhancer in: branchial arch[3/4] | nose[3/4] -chr3 141860620 141861968 enhancer 0 + 141860620 141861968 0,128,128 enhancer VISTA enhancer hs2041 110121244|GeneID:110121244 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/7] VISTA enhancer hs2041 | enhancer in: limb[3/7] -chr3 147331748 147333313 enhancer 0 + 147331748 147333313 0,128,128 enhancer VISTA enhancer hs213 110120615|GeneID:110120615 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[2/3] VISTA enhancer hs213 | enhancer in: limb[2/3] -chr3 147407358 147408549 enhancer 0 + 147407358 147408549 0,128,128 enhancer VISTA enhancer hs1043 110120973|GeneID:110120973 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/10] | hindbrain (rhombencephalon)[9/10] VISTA enhancer hs1043 | enhancer in: neural tube[9/10] | hindbrain (rhombencephalon)[9/10] -chr3 147660759 147662816 enhancer 0 + 147660759 147662816 0,128,128 enhancer VISTA enhancer hs1173 110121014|GeneID:110121014 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] VISTA enhancer hs1173 | enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] -chr3 147845621 147848817 enhancer 0 + 147845621 147848817 0,128,128 enhancer VISTA enhancer hs1573 110121146|GeneID:110121146 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/9] | midbrain (mesencephalon)[6/9] | forebrain[9/9] VISTA enhancer hs1573 | enhancer in: hindbrain (rhombencephalon)[6/9] | midbrain (mesencephalon)[6/9] | forebrain[9/9] -chr3 147933888 147935649 enhancer 0 + 147933888 147935649 0,128,128 enhancer VISTA enhancer hs1224 110121033|GeneID:110121033 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/10] VISTA enhancer hs1224 | enhancer in: forebrain[5/10] -chr3 148083227 148084382 enhancer 0 + 148083227 148084382 0,128,128 enhancer VISTA enhancer hs654 110120733|GeneID:110120733,100507461|GeneID:100507461 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[12/15] | forebrain[12/15] VISTA enhancer hs654 | enhancer in: midbrain (mesencephalon)[12/15] | forebrain[12/15] -chr3 148084569 148085799 enhancer 0 + 148084569 148085799 0,128,128 enhancer VISTA enhancer hs1203 110121026|GeneID:110121026,100507461|GeneID:100507461 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] VISTA enhancer hs1203 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] -chr3 148288711 148290023 enhancer 0 + 148288711 148290023 0,128,128 enhancer VISTA enhancer hs1115 110120993|GeneID:110120993,105374149|GeneID:105374149 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/7] VISTA enhancer hs1115 | enhancer in: midbrain (mesencephalon)[5/7] -chr3 157871436 157872574 enhancer 0 + 157871436 157872574 0,128,128 enhancer VISTA enhancer hs638 110120724|GeneID:110120724 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/9] VISTA enhancer hs638 | enhancer in: limb[5/9] -chr3 158057952 158060211 enhancer 0 + 158057952 158060211 0,128,128 enhancer VISTA enhancer hs1251 108449887|GeneID:108449887 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/6] | hindbrain (rhombencephalon)[3/6] | midbrain (mesencephalon)[3/6] VISTA enhancer hs1251 | enhancer in: neural tube[3/6] | hindbrain (rhombencephalon)[3/6] | midbrain (mesencephalon)[3/6] -chr3 158058910 158059013 conserved_region 0 + 158058910 158059013 192,0,192 sequence_feature conserved region; duplicated CNE region of homology to human CNE5; is also ultraconserved in vertebrate orthologs 108449887|GeneID:108449887 23575226|PMID:23575226 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:23575226] conserved region; duplicated CNE region of homology to human CNE5; is also ultraconserved in vertebrate orthologs -chr3 158164513 158166174 enhancer 0 + 158164513 158166174 0,128,128 enhancer VISTA enhancer hs636 110120723|GeneID:110120723,51319|GeneID:51319 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/11] | limb[4/11] VISTA enhancer hs636 | enhancer in: forebrain[7/11] | limb[4/11] -chr3 158185520 158186853 enhancer 0 + 158185520 158186853 0,128,128 enhancer VISTA enhancer hs741 110120755|GeneID:110120755,51319|GeneID:51319 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[12/12] VISTA enhancer hs741 | enhancer in: limb[12/12] -chr3 158367860 158369043 enhancer 0 + 158367860 158369043 0,128,128 enhancer VISTA enhancer hs1413 110121092|GeneID:110121092,51319|GeneID:51319 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/5] | limb[3/5] VISTA enhancer hs1413 | enhancer in: forebrain[3/5] | limb[3/5] -chr3 158768466 158775583 enhancer 0 + 158768466 158775583 0,128,128 enhancer VISTA enhancer hs1990 110121239|GeneID:110121239,100287290|GeneID:100287290 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: pancreas[4/9] VISTA enhancer hs1990 | enhancer in: pancreas[4/9] -chr3 169240544 169245156 enhancer 0 + 169240544 169245156 0,128,128 enhancer VISTA enhancer hs1433 110121102|GeneID:110121102 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[9/12] | trigeminal V (ganglion, cranial)[8/12] VISTA enhancer hs1433 | enhancer in: limb[9/12] | trigeminal V (ganglion, cranial)[8/12] -chr3 180718638 180720170 enhancer 0 + 180718638 180720170 0,128,128 enhancer VISTA enhancer hs258 110120632|GeneID:110120632 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] | eye[3/5] VISTA enhancer hs258 | enhancer in: limb[3/5] | eye[3/5] -chr3 180744036 180745086 enhancer 0 + 180744036 180745086 0,128,128 enhancer VISTA enhancer hs655 110120734|GeneID:110120734 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[4/6] VISTA enhancer hs655 | enhancer in: nose[4/6] -chr3 181055850 181058014 enhancer 0 + 181055850 181058014 0,128,128 enhancer VISTA enhancer hs192 110120606|GeneID:110120606 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/8] VISTA enhancer hs192 | enhancer in: forebrain[6/8] -chr3 181707861 181708258 enhancer 0 + 181707861 181708258 0,128,128 enhancer SRR1 108281177|GeneID:108281177,347689|GeneID:347689 23796710|PMID:23796710 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23796710] stimulates activity of promoter SRR1 | stimulates activity of promoter -chr3 181710174 181710187 protein_bind: high mobility group AT-hook 2 0 + 181710174 181710187 192,0,0 protein_binding_site HMGA2 site 108281177|GeneID:108281177,347689|GeneID:347689 24332177|PMID:24332177 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24332177] positive regulation of transcription HMGA2 site | positive regulation of transcription | high mobility group AT-hook 2 -chr3 181711152 181712186 promoter 0 + 181711152 181712186 0,128,128 promoter -789 to +253 promoter fragment 108281177|GeneID:108281177,347689|GeneID:347689 23796710|PMID:23796710 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23796710] -789 to +253 promoter fragment -chr3 181711651 181711676 protein_bind: signal transducer and activator of transcription 6 0 + 181711651 181711676 192,0,0 protein_binding_site Stat6 A probe 108281177|GeneID:108281177,347689|GeneID:347689 19520737|PMID:19520737 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19520737] Stat6 A probe | signal transducer and activator of transcription 6 -chr3 181716056 181716248 enhancer 0 + 181716056 181716248 0,128,128 enhancer SRR2 108281178|GeneID:108281178,347689|GeneID:347689 23796710|PMID:23796710 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23796710] stimulates activity of SOX2 promoter SRR2 | stimulates activity of SOX2 promoter -chr3 182240985 182243339 enhancer 0 + 182240985 182243339 0,128,128 enhancer VISTA enhancer hs1332 110121064|GeneID:110121064 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[4/6] | midbrain (mesencephalon)[4/6] | forebrain[4/6] VISTA enhancer hs1332 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[4/6] | midbrain (mesencephalon)[4/6] | forebrain[4/6] -chr3 186840009 186840167 enhancer 0 + 186840009 186840167 0,128,128 enhancer adiponectin distal enhancer 106660625|GeneID:106660625 18931025|PMID:18931025 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18931025] enhancer in adipocyte cells adiponectin distal enhancer | enhancer in adipocyte cells -chr3 186840076 186840083 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186840076 186840083 192,0,0 protein_binding_site CCAAT box 1 106660625|GeneID:106660625 18931025|PMID:18931025 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18931025] required for transcriptional activation CCAAT box 1 | required for transcriptional activation | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186840149 186840157 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186840149 186840157 192,0,0 protein_binding_site CCAAT box 2 106660625|GeneID:106660625 18931025|PMID:18931025 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18931025] required for transcriptional activation CCAAT box 2 | required for transcriptional activation | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186842033 186842732 promoter 0 + 186842033 186842732 0,128,128 promoter -676 to +41 nt fragment from PMID:15850785, sufficient for basal transcriptional activity 106660625|GeneID:106660625 15850785|PMID:15850785 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15850785] ADIPOQ, adiponectin, C1Q and collagen domain containing (GeneID:9370) promoter -676 to +41 nt fragment from PMID:15850785, sufficient for basal transcriptional activity | ADIPOQ, adiponectin, C1Q and collagen domain containing (GeneID:9370) promoter -chr3 186842133 186842161 transcriptional_cis_regulatory_region 0 + 186842133 186842161 0,128,128 region distal enhancer response element 106660625|GeneID:106660625 18931025|PMID:18931025 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18931025] needed for full activation by distal enhancer distal enhancer response element | needed for full activation by distal enhancer -chr3 186842423 186842435 protein_bind: peroxisome proliferator-activated receptor protein alpha/retinoid X receptor protein, alpha heterodimer 0 + 186842423 186842435 192,0,0 protein_binding_site 106660625|GeneID:106660625 12829629|PMID:12829629 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12829629] PPAR-responsive element (PPRE); required for full adiponectin promoter function PPAR-responsive element (PPRE); required for full adiponectin promoter function | peroxisome proliferator-activated receptor protein alpha/retinoid X receptor protein, alpha heterodimer -chr3 186842471 186842480 protein_bind: nuclear receptor subfamily 5 group A member 2 protein 0 + 186842471 186842480 192,0,0 protein_binding_site 106660625|GeneID:106660625 12829629|PMID:12829629 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12829629] LRH-responsive element (LRH-RE); required for full adiponectin promoter function LRH-responsive element (LRH-RE); required for full adiponectin promoter function | nuclear receptor subfamily 5 group A member 2 protein -chr3 186842749 186853050 enhancer 0 + 186842749 186853050 0,128,128 enhancer adiponectin intronic enhancer 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15919796] enhancer in adipocyte cells adiponectin intronic enhancer | enhancer in adipocyte cells -chr3 186845792 186845813 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186845792 186845813 192,0,0 protein_binding_site 3062/3082 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 3062/3082 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186845792 186845840 enhancer 0 + 186845792 186845840 0,128,128 enhancer core enhancer element 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15919796] required for full activity of intronic enhancer core enhancer element | required for full activity of intronic enhancer -chr3 186845806 186845819 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186845806 186845819 192,0,0 protein_binding_site 3076/3096 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 3076/3096 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186845819 186845840 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186845819 186845840 192,0,0 protein_binding_site 3089/3109 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 3089/3109 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186845905 186848724 silencer 0 + 186845905 186848724 0,128,128 silencer repressive element; +3175 to +5993 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15919796] repressive element; +3175 to +5993 nt fragment from PMID:15919796 -chr3 186848640 186848659 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186848640 186848659 192,0,0 protein_binding_site 5913/5931 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 5913/5931 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186849297 186849316 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186849297 186849316 192,0,0 protein_binding_site 6570/6588 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 6570/6588 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186850599 186850618 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186850599 186850618 192,0,0 protein_binding_site 7872/7890 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 7872/7890 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186850649 186850668 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186850649 186850668 192,0,0 protein_binding_site 7922/7940 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 7922/7940 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 186852662 186852681 protein_bind: CCAAT/enhancer binding protein (C/EBP), alpha 0 + 186852662 186852681 192,0,0 protein_binding_site 9935/9953 nt fragment from PMID:15919796 106660625|GeneID:106660625,9370|GeneID:9370 15919796|PMID:15919796 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15919796] 9935/9953 nt fragment from PMID:15919796 | CCAAT/enhancer binding protein (C/EBP), alpha -chr3 187286443 187287000 enhancer 0 + 187286443 187287000 0,128,128 enhancer amplified fragment containing the chr3:187004502-187004623 (GRCh37) CAGE region 108281160|GeneID:108281160 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr3:187004502-187004623 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr3 187286713 187286835 CAGE_cluster 0 + 187286713 187286835 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281160|GeneID:108281160 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr3 193771569 193773544 enhancer 0 + 193771569 193773544 0,128,128 enhancer VISTA enhancer hs1563 110121144|GeneID:110121144 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/5] | forebrain[5/5] VISTA enhancer hs1563 | enhancer in: midbrain (mesencephalon)[5/5] | forebrain[5/5] -chr3 193943027 193944689 enhancer 0 + 193943027 193944689 0,128,128 enhancer VISTA enhancer hs1344 110121069|GeneID:110121069 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/8] VISTA enhancer hs1344 | enhancer in: forebrain[8/8] -chr3 193959728 193962381 enhancer 0 + 193959728 193962381 0,128,128 enhancer VISTA enhancer hs1453 110121110|GeneID:110121110 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/5] | forebrain[4/5] | limb[4/5] VISTA enhancer hs1453 | enhancer in: neural tube[3/5] | forebrain[4/5] | limb[4/5] -chr3 194211570 194213668 enhancer 0 + 194211570 194213668 0,128,128 enhancer VISTA enhancer hs1543 110121137|GeneID:110121137 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[11/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] VISTA enhancer hs1543 | enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[11/11] | midbrain (mesencephalon)[10/11] | forebrain[10/11] -chr3 197898046 197898053 mitotic 0 + 197898046 197898053 160,82,45 recombination_feature NUP98-IQCG recombination region recombines with a sequence within the NUP98 intron 13 (IQCG) recombination sub-region of the nucleoporin 98kDa recombination region 107133517|GeneID:107133517 18084320|PMID:18084320 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:18084320] NUP98-IQCG recombination region recombines with a sequence within the NUP98 intron 13 (IQCG) recombination sub-region of the nucleoporin 98kDa recombination region -chr4 1611751 1612379 enhancer 0 + 1611751 1612379 0,128,128 enhancer VISTA enhancer hs526 110120693|GeneID:110120693 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs526 | enhancer in: forebrain[4/4] -chr4 2811875 2812960 enhancer 0 + 2811875 2812960 0,128,128 enhancer 106804089|GeneID:106804089,6452|GeneID:6452 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr4 3074876 3074939 repeat_instability_region 0 + 3074876 3074939 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with Huntington disease 109461479|GeneID:109461479,3064|GeneID:3064 8458085|PMID:8458085 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:8458085] repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with Huntington disease -chr4 3074876 3074940 tandem 0 + 3074876 3074940 0,0,192 repeat_region 109461479|GeneID:109461479,3064|GeneID:3064 repeat_region -chr4 4521139 4522323 enhancer 0 + 4521139 4522323 0,128,128 enhancer VISTA enhancer hs746 110120757|GeneID:110120757 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/7] VISTA enhancer hs746 | enhancer in: branchial arch[4/7] -chr4 6297013 6299211 enhancer 0 + 6297013 6299211 0,128,128 enhancer VISTA enhancer hs1979 110121237|GeneID:110121237,7466|GeneID:7466 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: pancreas[3/7] VISTA enhancer hs1979 | enhancer in: pancreas[3/7] -chr4 7782699 7782860 enhancer 0 + 7782699 7782860 0,128,128 enhancer heart enhancer 19 107992393|GeneID:107992393 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 19 | enhancer in heart -chr4 13007693 13008703 enhancer 0 + 13007693 13008703 0,128,128 enhancer VISTA enhancer hs259 110120633|GeneID:110120633 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/15] VISTA enhancer hs259 | enhancer in: limb[10/15] -chr4 14267208 14268300 enhancer 0 + 14267208 14268300 0,128,128 enhancer VISTA enhancer hs842 110120784|GeneID:110120784 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] VISTA enhancer hs842 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] -chr4 23930437 23932069 enhancer 0 + 23930437 23932069 0,128,128 enhancer VISTA enhancer hs2346 110121305|GeneID:110121305 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[8/11] | facial mesenchyme[5/11] VISTA enhancer hs2346 | enhancer in: eye[8/11] | facial mesenchyme[5/11] -chr4 41745974 41745989 repeat_instability_region 0 + 41745974 41745989 192,0,192 sequence_feature repeat instability region; expansion of this 5 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 1, 4F, 15, 19 and 23 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 5 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 1, 4F, 15, 19 and 23 of PMID:15121777 -chr4 41745975 41746022 tandem 0 + 41745975 41746022 0,0,192 repeat_region 110011216|GeneID:110011216 repeat_region -chr4 41745977 41745998 repeat_instability_region 0 + 41745977 41745998 192,0,192 sequence_feature repeat instability region; expansion of this 7 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 5, 6, 20, 22 and 13 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 7 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 5, 6, 20, 22 and 13 of PMID:15121777 -chr4 41745977 41746016 repeat_instability_region 0 + 41745977 41746016 192,0,192 sequence_feature repeat instability region; expansion of this 13 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patient 14 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 13 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patient 14 of PMID:15121777 -chr4 41745986 41746001 repeat_instability_region 0 + 41745986 41746001 192,0,192 sequence_feature repeat instability region; expansion of this 5 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patient 10 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 5 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patient 10 of PMID:15121777 -chr4 41745986 41746019 repeat_instability_region 0 + 41745986 41746019 192,0,192 sequence_feature repeat instability region; expansion of this 11 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 11F and 16 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 11 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 11F and 16 of PMID:15121777 -chr4 41745989 41745990 sequence_alteration 0 + 41745989 41745990 192,0,192 sequence_feature sequence alteration; rs17884724 T>G, haplotypes with the rs17884724 'G' allele were more frequently detected with the 7-alanine expansion than that seen in control subjects 110011216|GeneID:110011216 19881470|PMID:19881470 COORDINATES:natural variation mutant evidence [ECO:0001103][PMID:19881470] sequence alteration; rs17884724 T>G, haplotypes with the rs17884724 'G' allele were more frequently detected with the 7-alanine expansion than that seen in control subjects -chr4 41745995 41746013 repeat_instability_region 0 + 41745995 41746013 192,0,192 sequence_feature repeat instability region; expansion of this 6 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 3, 8, 9, 12 and 18 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 6 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 3, 8, 9, 12 and 18 of PMID:15121777 -chr4 41746010 41746028 repeat_instability_region 0 + 41746010 41746028 192,0,192 sequence_feature repeat instability region; expansion of this 6 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 2, 7 and 28 of PMID:15121777 110011216|GeneID:110011216 15121777|PMID:15121777 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15121777] repeat instability region; expansion of this 6 aa polyalanine repeat tract is associated with congenital central hypoventilation syndrome and found in patients 2, 7 and 28 of PMID:15121777 -chr4 42148073 42149047 enhancer 0 + 42148073 42149047 0,128,128 enhancer VISTA enhancer hs847 110120787|GeneID:110120787 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/8] VISTA enhancer hs847 | enhancer in: forebrain[7/8] -chr4 47824448 47826035 enhancer 0 + 47824448 47826035 0,128,128 enhancer VISTA enhancer hs2414 110121309|GeneID:110121309 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/5] VISTA enhancer hs2414 | enhancer in: heart[5/5] -chr4 53076115 53078130 enhancer 0 + 53076115 53078130 0,128,128 enhancer VISTA enhancer hs1668 110121183|GeneID:110121183 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[6/6] VISTA enhancer hs1668 | enhancer in: other[6/6] -chr4 53195306 53199113 enhancer 0 + 53195306 53199113 0,128,128 enhancer VISTA enhancer hs1460 110121111|GeneID:110121111 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[3/7] VISTA enhancer hs1460 | enhancer in: branchial arch[3/7] -chr4 54015054 54016288 enhancer 0 + 54015054 54016288 0,128,128 enhancer VISTA enhancer hs687 110120745|GeneID:110120745 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | forebrain[6/6] VISTA enhancer hs687 | enhancer in: neural tube[6/6] | forebrain[6/6] -chr4 54095830 54096629 enhancer 0 + 54095830 54096629 0,128,128 enhancer VISTA enhancer hs678 110120742|GeneID:110120742 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[11/12] VISTA enhancer hs678 | enhancer in: neural tube[11/12] -chr4 56053422 56057627 enhancer 0 + 56053422 56057627 0,128,128 enhancer VISTA enhancer hs1651 110121177|GeneID:110121177 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] | cranial nerve[7/7] VISTA enhancer hs1651 | enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] | cranial nerve[7/7] -chr4 66123761 66124648 enhancer 0 + 66123761 66124648 0,128,128 enhancer VISTA enhancer hs840 110120783|GeneID:110120783 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[10/10] VISTA enhancer hs840 | enhancer in: forebrain[10/10] -chr4 83778857 83780112 enhancer 0 + 83778857 83780112 0,128,128 enhancer VISTA enhancer hs712 110120752|GeneID:110120752 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/8] VISTA enhancer hs712 | enhancer in: midbrain (mesencephalon)[8/8] -chr4 84253096 84253458 enhancer 0 + 84253096 84253458 0,128,128 enhancer heart enhancer 9 107988048|GeneID:107988048 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 9 | enhancer in heart -chr4 84324437 84325402 enhancer 0 + 84324437 84325402 0,128,128 enhancer VISTA enhancer hs680 110120743|GeneID:110120743 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/7] | midbrain (mesencephalon)[5/7] | cranial nerve[6/7] VISTA enhancer hs680 | enhancer in: hindbrain (rhombencephalon)[6/7] | midbrain (mesencephalon)[5/7] | cranial nerve[6/7] -chr4 87794551 87799611 promoter 0 + 87794551 87799611 0,128,128 promoter -5000 promoter 110351180|GeneID:110351180 12459268|PMID:12459268 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12459268] -5000 promoter -chr4 87795080 87798591 LINE:L1HS 0 + 87795080 87798591 0,0,192 mobile_genetic_element 110351180|GeneID:110351180 mobile_genetic_element -chr4 87795080 87798624 silencer 0 + 87795080 87798624 0,128,128 silencer -4470 to -927 110351180|GeneID:110351180 12459268|PMID:12459268 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12459268] represses promoter activity -4470 to -927 | represses promoter activity -chr4 87798623 87799611 promoter 0 + 87798623 87799611 0,128,128 promoter -927 promoter 110351180|GeneID:110351180 12459268|PMID:12459268 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12459268] -927 promoter -chr4 87798742 87798766 protein_bind: Jun, Fos, FOS like 2, JunD proto-oncogenes, AP-1 transcription factor subunits 0 + 87798742 87798766 192,0,0 protein_binding_site AP1(3) site 110351180|GeneID:110351180 19393184|PMID:19393184 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19393184] AP1(3) site | Jun, Fos, FOS like 2, JunD proto-oncogenes, AP-1 transcription factor subunits -chr4 87798742 87798766 protein_bind: cAMP responsive element binding protein 1 0 + 87798742 87798766 192,0,0 protein_binding_site AP1(3) site 110351180|GeneID:110351180 19393184|PMID:19393184 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19393184] AP1(3) site | cAMP responsive element binding protein 1 -chr4 87798871 87798894 protein_bind: SMAD family member 1 0 + 87798871 87798894 192,0,0 protein_binding_site CRE2 110351180|GeneID:110351180 20965237|PMID:20965237 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20965237] CRE2 | SMAD family member 1 -chr4 87798871 87798894 protein_bind: cAMP responsive element binding protein 1 0 + 87798871 87798894 192,0,0 protein_binding_site CRE2 110351180|GeneID:110351180 19127545|PMID:19127545 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19127545] positive regulation of promoter activity CRE2 | positive regulation of promoter activity | cAMP responsive element binding protein 1 -chr4 87799141 87799151 transcriptional_cis_regulatory_region 0 + 87799141 87799151 0,128,128 region E element 110351180|GeneID:110351180 12397605|PMID:12397605 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:12397605] important for expression in chondrocytes and fibroblasts E element | important for expression in chondrocytes and fibroblasts -chr4 87799204 87799556 conserved_region 0 + 87799204 87799556 192,0,192 sequence_feature conserved region; BSP box 110351180|GeneID:110351180 9084640|PMID:9084640 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:9084640] conserved region; BSP box -chr4 87799228 87799702 promoter 0 + 87799228 87799702 0,128,128 promoter -319 to +148 promoter fragment 110351180|GeneID:110351180 9069166|PMID:9069166 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9069166] -319 to +148 promoter fragment -chr4 87799352 87799359 transcriptional_cis_regulatory_region 0 + 87799352 87799359 0,128,128 region D element; corresponds to site A (PMID:12750290) 110351180|GeneID:110351180 12397605|PMID:12397605,12750290|PMID:12750290 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:12397605, PMID:12750290] important for expression in osteoblasts and hypertrophic chondrocytes D element; corresponds to site A (PMID:12750290) | important for expression in osteoblasts and hypertrophic chondrocytes -chr4 87799452 87799472 protein_bind: runt related transcription factor 2 0 + 87799452 87799472 192,0,0 protein_binding_site R1 Runx site 110351180|GeneID:110351180 12750290|PMID:12750290,17956871|PMID:17956871 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12750290, PMID:17956871] R1 Runx site | runt related transcription factor 2 -chr4 87799467 87799489 protein_bind: JunD, FOS like 2, proto-oncogenes, AP-1 transcription factor subunits 0 + 87799467 87799489 192,0,0 protein_binding_site CRE1 110351180|GeneID:110351180 18088579|PMID:18088579 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18088579] positive regulation of promoter activity CRE1 | positive regulation of promoter activity | JunD, FOS like 2, proto-oncogenes, AP-1 transcription factor subunits -chr4 87799467 87799489 protein_bind: cAMP responsive element binding protein 1 0 + 87799467 87799489 192,0,0 protein_binding_site CRE1 110351180|GeneID:110351180 18088579|PMID:18088579,19127545|PMID:19127545 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18088579, PMID:19127545] positive regulation of promoter activity CRE1 | positive regulation of promoter activity | cAMP responsive element binding protein 1 -chr4 87799497 87799502 CAAT_signal 0 + 87799497 87799502 0,128,128 CAAT_signal 110351180|GeneID:110351180 8061918|PMID:8061918 COORDINATES:motif similarity evidence [ECO:0000028][PMID:8061918] CAAT_signal -chr4 87799523 87799529 TATA_box 0 + 87799523 87799529 0,128,128 TATA_box 110351180|GeneID:110351180 8061918|PMID:8061918 COORDINATES:motif similarity evidence [ECO:0000028][PMID:8061918] TATA_box -chr4 87799649 87799673 protein_bind: YY1 transcription factor 0 + 87799649 87799673 192,0,0 protein_binding_site YY1 site 110351180|GeneID:110351180,3381|GeneID:3381 9069166|PMID:9069166 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9069166] YY1 site | YY1 transcription factor -chr4 87973467 87975710 promoter 0 + 87973467 87975710 0,128,128 promoter -2267 promoter fragment 110283621|GeneID:110283621 23774402|PMID:23774402 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23774402] -2267 promoter fragment -chr4 87974709 87975797 promoter 0 + 87974709 87975797 0,128,128 promoter -1000 promoter fragment 110283621|GeneID:110283621 11861425|PMID:11861425 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11861425] -1000 promoter fragment -chr4 87974719 87974729 transcriptional_cis_regulatory_region 0 + 87974719 87974729 0,128,128 region A/T element 110283621|GeneID:110283621 11861425|PMID:11861425 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:11861425] mediates regulation by peroxisome proliferator activated receptor gamma A/T element | mediates regulation by peroxisome proliferator activated receptor gamma -chr4 87974944 87974953 transcriptional_cis_regulatory_region 0 + 87974944 87974953 0,128,128 region ERRE-S1 110283621|GeneID:110283621 23680656|PMID:23680656 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:23680656] mediates induction by estrogen related receptor alpha ERRE-S1 | mediates induction by estrogen related receptor alpha -chr4 87974971 87974992 enhancer 0 + 87974971 87974992 0,128,128 enhancer RAE (ras-Activated Enhancer) 110283621|GeneID:110283621 12650610|PMID:12650610 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12650610] RAE (ras-Activated Enhancer) -chr4 87975019 87975028 transcriptional_cis_regulatory_region 0 + 87975019 87975028 0,128,128 region ERRE-S2 110283621|GeneID:110283621 23680656|PMID:23680656 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:23680656] mediates induction by estrogen related receptor alpha ERRE-S2 | mediates induction by estrogen related receptor alpha -chr4 87975251 87975281 protein_bind: MYB proto-oncogene, transcription factor 0 + 87975251 87975281 192,0,0 protein_binding_site -443 site 110283621|GeneID:110283621 18459127|PMID:18459127 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18459127] -443 site | MYB proto-oncogene, transcription factor -chr4 87975465 87975481 transcriptional_cis_regulatory_region 0 + 87975465 87975481 0,128,128 region OPN/GLI site 110283621|GeneID:110283621 19556240|PMID:19556240 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:19556240] mediates hedgehog-induction of promoter activity OPN/GLI site | mediates hedgehog-induction of promoter activity -chr4 87975539 87975573 protein_bind: runt related transcription factor 2 0 + 87975539 87975573 192,0,0 protein_binding_site -172 to -137 110283621|GeneID:110283621 15479859|PMID:15479859 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15479859] -172 to -137 | runt related transcription factor 2 -chr4 87975544 87975568 protein_bind: sex determining region Y 0 + 87975544 87975568 192,0,0 protein_binding_site -155 SRY site 110283621|GeneID:110283621 26201802|PMID:26201802 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26201802] -155 SRY site | sex determining region Y -chr4 87975563 87975583 protein_bind: CCAAT/enhancer binding protein alpha 0 + 87975563 87975583 192,0,0 protein_binding_site -147 to -127 110283621|GeneID:110283621 14712233|PMID:14712233 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14712233] -147 to -127 | CCAAT/enhancer binding protein alpha -chr4 87975563 87975583 protein_bind: runt related transcription factor 1 0 + 87975563 87975583 192,0,0 protein_binding_site -147 to -127 110283621|GeneID:110283621 14712233|PMID:14712233 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14712233] -147 to -127 | runt related transcription factor 1 -chr4 87975580 87975606 protein_bind: ERG, ETS transcription factor 0 + 87975580 87975606 192,0,0 protein_binding_site EBS 110283621|GeneID:110283621 21669963|PMID:21669963 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21669963] positive regulation of promoter activity EBS | positive regulation of promoter activity | ERG, ETS transcription factor -chr4 87975586 87975800 promoter 0 + 87975586 87975800 0,128,128 promoter -124 to +90 fragment for core promoter 110283621|GeneID:110283621 7785924|PMID:7785924 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7785924] -124 to +90 fragment for core promoter -chr4 87975602 87975630 protein_bind: Sp1 transcription factor 0 + 87975602 87975630 192,0,0 protein_binding_site -108 to -80 Sp1 site 110283621|GeneID:110283621 17689681|PMID:17689681 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17689681] positive regulation of promoter activity -108 to -80 Sp1 site | positive regulation of promoter activity | Sp1 transcription factor -chr4 87975614 87975660 protein_bind: MYC proto-oncogene, bHLH transcription factor 0 + 87975614 87975660 192,0,0 protein_binding_site RE-1a; -96 to -51 110283621|GeneID:110283621 11126367|PMID:11126367 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11126367] RE-1a; -96 to -51 | MYC proto-oncogene, bHLH transcription factor -chr4 87975616 87975687 enhancer 0 + 87975616 87975687 0,128,128 enhancer RE-1; -94 to -24 110283621|GeneID:110283621 11126367|PMID:11126367 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11126367] RE-1; -94 to -24 -chr4 87975625 87975646 protein_bind: Jun and Fos proto-oncogenes, AP-1 transcription factor subunits 0 + 87975625 87975646 192,0,0 protein_binding_site AP-1 site 110283621|GeneID:110283621 20609221|PMID:20609221 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20609221] AP-1 site | Jun and Fos proto-oncogenes, AP-1 transcription factor subunits -chr4 87975631 87975657 protein_bind: Sp1/Sp3 transcription factor 0 + 87975631 87975657 192,0,0 protein_binding_site -78 to -54 110283621|GeneID:110283621 15479859|PMID:15479859,16009426|PMID:16009426 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15479859, PMID:16009426] -78 to -54 | Sp1/Sp3 transcription factor -chr4 87975655 87975665 transcriptional_cis_regulatory_region 0 + 87975655 87975665 0,128,128 region TIE1 site 110283621|GeneID:110283621,6696|GeneID:6696 26584547|PMID:26584547 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:26584547] mediates inhibition by transforming growth factor beta TIE1 site | mediates inhibition by transforming growth factor beta -chr4 87975660 87975693 protein_bind: POU class 2 homeobox 1 and 2 0 + 87975660 87975693 192,0,0 protein_binding_site RE-1b; -50 to -19 110283621|GeneID:110283621,6696|GeneID:6696 11126367|PMID:11126367 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11126367] RE-1b; -50 to -19 | POU class 2 homeobox 1 and 2 -chr4 87975699 87975709 transcriptional_cis_regulatory_region 0 + 87975699 87975709 0,128,128 region TIE2 site 110283621|GeneID:110283621,6696|GeneID:6696 26584547|PMID:26584547 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:26584547] mediates inhibition by transforming growth factor beta TIE2 site | mediates inhibition by transforming growth factor beta -chr4 87975838 87975867 protein_bind: nuclear factor kappa B subunit 1; RELA proto-oncogene, NF-kB subunit 0 + 87975838 87975867 192,0,0 protein_binding_site OPN/NF-kappaB site 110283621|GeneID:110283621,6696|GeneID:6696 17227585|PMID:17227585 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17227585] positive regulation of promoter activity; antagonized by Brms1 OPN/NF-kappaB site | positive regulation of promoter activity; antagonized by Brms1 | nuclear factor kappa B subunit 1; RELA proto-oncogene, NF-kB subunit -chr4 87976851 87976881 protein_bind: CCAAT/enhancer binding protein beta 0 + 87976851 87976881 192,0,0 protein_binding_site CEBP intron 1 probe 110283621|GeneID:110283621,6696|GeneID:6696 12837040|PMID:12837040 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12837040] positive regulation of promoter activity CEBP intron 1 probe | positive regulation of promoter activity | CCAAT/enhancer binding protein beta -chr4 89995881 89999902 enhancer 0 + 89995881 89999902 0,128,128 enhancer VISTA enhancer hs1374 110121083|GeneID:110121083 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/8] | hindbrain (rhombencephalon)[7/8] VISTA enhancer hs1374 | enhancer in: neural tube[6/8] | hindbrain (rhombencephalon)[7/8] -chr4 94668293 94670308 enhancer 0 + 94668293 94670308 0,128,128 enhancer VISTA enhancer hs1438 110121104|GeneID:110121104 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/11] | limb[5/11] VISTA enhancer hs1438 | enhancer in: midbrain (mesencephalon)[4/11] | limb[5/11] -chr4 104424417 104425738 enhancer 0 + 104424417 104425738 0,128,128 enhancer VISTA enhancer hs260 110120634|GeneID:110120634 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/8] VISTA enhancer hs260 | enhancer in: midbrain (mesencephalon)[6/8] -chr4 108333183 108335877 enhancer 0 + 108333183 108335877 0,128,128 enhancer VISTA enhancer hs1545 110121138|GeneID:110121138 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/8] | forebrain[8/8] VISTA enhancer hs1545 | enhancer in: midbrain (mesencephalon)[8/8] | forebrain[8/8] -chr4 108610751 108612309 enhancer 0 + 108610751 108612309 0,128,128 enhancer VISTA enhancer hs1050 110120975|GeneID:110120975 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] | other[3/5] VISTA enhancer hs1050 | enhancer in: forebrain[4/5] | other[3/5] -chr4 110748102 110750012 enhancer 0 + 110748102 110750012 0,128,128 enhancer VISTA enhancer hs930 110120806|GeneID:110120806 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] VISTA enhancer hs930 | enhancer in: midbrain (mesencephalon)[4/5] -chr4 111500645 111501749 enhancer 0 + 111500645 111501749 0,128,128 enhancer VISTA enhancer hs559 110120703|GeneID:110120703 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/5] VISTA enhancer hs559 | enhancer in: midbrain (mesencephalon)[3/5] -chr4 111747145 111748759 enhancer 0 + 111747145 111748759 0,128,128 enhancer VISTA enhancer hs926 110120805|GeneID:110120805 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/7] VISTA enhancer hs926 | enhancer in: other[4/7] -chr4 112521233 112522374 enhancer 0 + 112521233 112522374 0,128,128 enhancer VISTA enhancer hs981 110120819|GeneID:110120819,105377372|GeneID:105377372 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] VISTA enhancer hs981 | enhancer in: hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] -chr4 122825689 122826872 promoter 0 + 122825689 122826872 0,128,128 promoter -1001 to +179 promoter; HindIII/BamHI fragment 109113863|GeneID:109113863 1764264|PMID:1764264 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:1764264] -1001 to +179 promoter; HindIII/BamHI fragment -chr4 122826040 122827008 promoter 0 + 122826040 122827008 0,128,128 promoter -650 to +314 promoter; NsiI/XhoI fragment 109113863|GeneID:109113863 7929563|PMID:7929563 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7929563] -650 to +314 promoter; NsiI/XhoI fragment -chr4 122826064 122826135 transcriptional_cis_regulatory_region 0 + 122826064 122826135 0,128,128 region PKC/cAMP stimulation region; -624 to -556; includes DSE (dyad symmetry element) from PMID:16739027 109113863|GeneID:109113863 9693381|PMID:9693381,16739027|PMID:16739027 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9693381] stimulates expression in response to cyclic AMP PKC/cAMP stimulation region; -624 to -556; includes DSE (dyad symmetry element) from PMID:16739027 | stimulates expression in response to cyclic AMP -chr4 122826135 122826174 transcriptional_cis_regulatory_region 0 + 122826135 122826174 0,128,128 region GFRE (growth factor response element); -555 to -512 109113863|GeneID:109113863 9582440|PMID:9582440,9693381|PMID:9693381 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9582440, PMID:9693381] stimulates expression in response to carbachol, growth factors GFRE (growth factor response element); -555 to -512 | stimulates expression in response to carbachol, growth factors -chr4 122826256 122826278 protein_bind: homeobox A10 0 + 122826256 122826278 192,0,0 protein_binding_site distal Hoxa10 site; -448 to -425 109113863|GeneID:109113863 22493287|PMID:22493287 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22493287] distal Hoxa10 site; -448 to -425 | homeobox A10 -chr4 122826419 122826441 protein_bind: homeobox A10 0 + 122826419 122826441 192,0,0 protein_binding_site proximal Hoxa10 site; -287 to -266 109113863|GeneID:109113863 22493287|PMID:22493287 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22493287] proximal Hoxa10 site; -287 to -266 | homeobox A10 -chr4 122826427 122826464 protein_bind: Jun and Fos proto-oncogenes, AP-1 transcription factor subunits 0 + 122826427 122826464 192,0,0 protein_binding_site TRE (TPA responsive element); AP-1 binding site 109113863|GeneID:109113863 7499402|PMID:7499402,7622586|PMID:7622586 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7499402, PMID:7622586] TRE (TPA responsive element); AP-1 binding site | Jun and Fos proto-oncogenes, AP-1 transcription factor subunits -chr4 122826519 122826540 protein_bind: Sp1 transcription factor 0 + 122826519 122826540 192,0,0 protein_binding_site A2; -172 to -151; site C 109113863|GeneID:109113863 8702507|PMID:8702507,9178905|PMID:9178905 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8702507, PMID:9178905] A2; -172 to -151; site C | Sp1 transcription factor -chr4 122826519 122826540 protein_bind: early growth response 1 0 + 122826519 122826540 192,0,0 protein_binding_site A2; -172 to -151; site C 109113863|GeneID:109113863 8702507|PMID:8702507,9178905|PMID:9178905 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8702507, PMID:9178905] A2; -172 to -151; site C | early growth response 1 -chr4 122826616 122826640 protein_bind: Sp1 transcription factor 0 + 122826616 122826640 192,0,0 protein_binding_site A1; -74 to -51; site E 109113863|GeneID:109113863 8702507|PMID:8702507,9178905|PMID:9178905 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8702507, PMID:9178905] A1; -74 to -51; site E | Sp1 transcription factor -chr4 122826616 122826640 protein_bind: early growth response 1 0 + 122826616 122826640 192,0,0 protein_binding_site A1; -74 to -51; site E 109113863|GeneID:109113863 8702507|PMID:8702507,9178905|PMID:9178905 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8702507, PMID:9178905] A1; -74 to -51; site E | early growth response 1 -chr4 122826820 122826852 protein_bind: homeobox B7 0 + 122826820 122826852 192,0,0 protein_binding_site +130 to +159 HoxB7 probe 109113863|GeneID:109113863,2247|GeneID:2247 8756643|PMID:8756643 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8756643] +130 to +159 HoxB7 probe | homeobox B7 -chr4 123462272 123465299 enhancer 0 + 123462272 123465299 0,128,128 enhancer VISTA enhancer hs1582 110121150|GeneID:110121150 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[6/8] | facial mesenchyme[4/8] VISTA enhancer hs1582 | enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[6/8] | facial mesenchyme[4/8] -chr4 123854658 123858375 enhancer 0 + 123854658 123858375 0,128,128 enhancer VISTA enhancer hs1525 110121129|GeneID:110121129,285419|GeneID:285419 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/10] | heart[6/10] VISTA enhancer hs1525 | enhancer in: limb[5/10] | heart[6/10] -chr4 125518676 125520859 enhancer 0 + 125518676 125520859 0,128,128 enhancer VISTA enhancer hs1389 110121089|GeneID:110121089 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] | ear[5/6] VISTA enhancer hs1389 | enhancer in: forebrain[4/6] | ear[5/6] -chr4 144355660 144357567 enhancer 0 + 144355660 144357567 0,128,128 enhancer VISTA enhancer hs906 110120799|GeneID:110120799 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[7/7] | limb[6/7] | genital tubercle[7/7] VISTA enhancer hs906 | enhancer in: hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[7/7] | limb[6/7] | genital tubercle[7/7] -chr4 148052008 148056122 enhancer 0 + 148052008 148056122 0,128,128 enhancer VISTA enhancer hs2100 110121259|GeneID:110121259,79658|GeneID:79658 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[3/5] VISTA enhancer hs2100 | enhancer in: facial mesenchyme[3/5] -chr4 150175320 150178147 enhancer 0 + 150175320 150178147 0,128,128 enhancer VISTA enhancer hs1614 110121159|GeneID:110121159,166614|GeneID:166614 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/5] VISTA enhancer hs1614 | enhancer in: branchial arch[4/5] -chr4 151004095 151004710 enhancer 0 + 151004095 151004710 0,128,128 enhancer amplified fragment containing the chr4:151925400-151925701 (GRCh37) region with regulatory potential 108281188|GeneID:108281188 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr4:151925400-151925701 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr4 151004247 151004549 epigenetically_modified_region 0 + 151004247 151004549 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108281188|GeneID:108281188 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr4 152366502 152369365 enhancer 0 + 152366502 152369365 0,128,128 enhancer VISTA enhancer hs1361 110121078|GeneID:110121078 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/9] | hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] | forebrain[8/9] VISTA enhancer hs1361 | enhancer in: neural tube[8/9] | hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] | forebrain[8/9] -chr4 154659550 154660904 enhancer 0 - 154659550 154660904 0,128,128 enhancer VISTA enhancer hs1707 110121190|GeneID:110121190 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: pancreas[5/14] VISTA enhancer hs1707 | enhancer in: pancreas[5/14] -chr4 180280405 180281376 enhancer 0 + 180280405 180281376 0,128,128 enhancer VISTA enhancer hs886 110120796|GeneID:110120796,105377567|GeneID:105377567 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/11] VISTA enhancer hs886 | enhancer in: forebrain[9/11] -chr4 182814743 182818109 retrotransposon:HERVH-int 0 + 182814743 182818109 0,0,192 mobile_genetic_element direction; forward 107992388|GeneID:107992388 direction; forward -chr4 182815204 182815265 tandem 0 + 182815204 182815265 0,0,192 repeat_region polymorphic allele, with some alleles containing two repeats, rather than four repeats 107992388|GeneID:107992388 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] polymorphic allele, with some alleles containing two repeats, rather than four repeats -chr4 182815265 182815326 tandem 0 + 182815265 182815326 0,0,192 repeat_region polymorphic allele, with some alleles containing two repeats, rather than four repeats 107992388|GeneID:107992388 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] polymorphic allele, with some alleles containing two repeats, rather than four repeats -chr4 182815326 182815387 tandem 0 + 182815326 182815387 0,0,192 repeat_region polymorphic allele, with some alleles containing two repeats, rather than four repeats 107992388|GeneID:107992388 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] polymorphic allele, with some alleles containing two repeats, rather than four repeats -chr4 182815387 182815448 tandem 0 + 182815387 182815448 0,0,192 repeat_region polymorphic allele, with some alleles containing two repeats, rather than four repeats 107992388|GeneID:107992388 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] polymorphic allele, with some alleles containing two repeats, rather than four repeats -chr4 182816004 182816065 non_allelic_homologous 0 + 182816004 182816065 160,82,45 recombination_feature chr4 18q-146C recombination sub-region, recombines with the chr18 18q-146C recombination sub-region within the chr 18 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation 107992388|GeneID:107992388 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] chr4 18q-146C recombination sub-region, recombines with the chr18 18q-146C recombination sub-region within the chr 18 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation -chr4 182816135 182816233 non_allelic_homologous 0 + 182816135 182816233 160,82,45 recombination_feature chr4 18q-82C recombination sub-region, recombines with the chr18 18q-82C recombination sub-region within the chr 18 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation 107992388|GeneID:107992388 22260357|PMID:22260357 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22260357] chr4 18q-82C recombination sub-region, recombines with the chr18 18q-82C recombination sub-region within the chr 18 t(4;18)(q35;q18) HERV-H recombination region, resulting in a translocation -chr4 184875882 184876149 retrotransposon:AluSx1 0 + 184875882 184876149 0,0,192 mobile_genetic_element direction; forward 108281192|GeneID:108281192 direction; forward -chr4 184875882 184876993 stem_loop: PATRR4 stem loop 0 + 184875882 184876993 0,0,0 stem_loop PATRR4 stem loop 108281192|GeneID:108281192 20673865|PMID:20673865 EXISTENCE:manual assertion [ECO:0000218][PMID:20673865] PATRR4 stem loop -chr4 184876151 184876549 non-LTR retrotransposon:L1MC4a 0 + 184876151 184876549 0,0,192 mobile_genetic_element direction; forward 108281192|GeneID:108281192 direction; forward -chr4 184876402 184876404 recombination_hotspot 0 + 184876402 184876404 160,82,45 recombination_feature PATRR4 breakpoint sub-region, recombines with from PATRR22 breakpoint sub-region, resulting in a translocation 108281192|GeneID:108281192 20673865|PMID:20673865 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20673865] PATRR4 breakpoint sub-region, recombines with from PATRR22 breakpoint sub-region, resulting in a translocation -chr4 184876696 184876993 retrotransposon:AluSx1 0 + 184876696 184876993 0,0,192 mobile_genetic_element direction; reverse 108281192|GeneID:108281192 direction; reverse -chr4 184877593 184879480 meiotic 0 + 184877593 184879480 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 108281192|GeneID:108281192 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr4 184878411 184878424 nucleotide_motif 0 + 184878411 184878424 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281192|GeneID:108281192 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr5 413586 414186 enhancer 0 + 413586 414186 0,128,128 enhancer amplified fragment containing the chr5:413817-414070 (GRCh37) CAGE region 108251796|GeneID:108251796,57491|GeneID:57491 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr5:413817-414070 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr5 413701 413955 CAGE_cluster 0 + 413701 413955 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108251796|GeneID:108251796,57491|GeneID:57491 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr5 1934509 1936573 meiotic 0 + 1934509 1936573 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype 107758904|GeneID:107758904 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype -chr5 1934543 1936401 meiotic 0 + 1934543 1936401 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107758904|GeneID:107758904 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr5 1934835 1936335 meiotic 0 + 1934835 1936335 160,82,45 recombination_feature crossovers mapped in sperm cells of males of African ancestry 107758904|GeneID:107758904 21750151|PMID:21750151 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:21750151] crossovers mapped in sperm cells of males of African ancestry -chr5 1935533 1935549 nucleotide_motif 0 + 1935533 1935549 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107758904|GeneID:107758904 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr5 1935559 1935575 nucleotide_motif 0 + 1935559 1935575 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (5-6/7 nucleotides, depending on the SNP rs116141470), to the predicted 16-mer PRDM9 C binding motif, CCNCNNTNNNCNTNNC 107758904|GeneID:107758904 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity, but not exact identity (5-6/7 nucleotides, depending on the SNP rs116141470), to the predicted 16-mer PRDM9 C binding motif, CCNCNNTNNNCNTNNC -chr5 1935564 1935565 sequence_alteration 0 + 1935564 1935565 192,0,192 sequence_feature sequence alteration; rs116141470 A>G, biased gene conversion with overtransmission of the 'G' allele 107758904|GeneID:107758904 21750151|PMID:21750151 COORDINATES:natural variation mutant evidence [ECO:0001103][PMID:21750151] sequence alteration; rs116141470 A>G, biased gene conversion with overtransmission of the 'G' allele -chr5 2111940 2113316 enhancer 0 + 2111940 2113316 0,128,128 enhancer VISTA enhancer hs633 110120722|GeneID:110120722,105374618|GeneID:105374618 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/12] VISTA enhancer hs633 | enhancer in: dorsal root ganglion[4/12] -chr5 2204342 2208266 enhancer 0 + 2204342 2208266 0,128,128 enhancer VISTA enhancer hs1327 110121060|GeneID:110121060 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/6] | hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] VISTA enhancer hs1327 | enhancer in: neural tube[5/6] | hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] -chr5 3182103 3183157 enhancer 0 + 3182103 3183157 0,128,128 enhancer VISTA enhancer hs603 110120713|GeneID:110120713 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/10] VISTA enhancer hs603 | enhancer in: hindbrain (rhombencephalon)[5/10] -chr5 3186324 3187812 enhancer 0 + 3186324 3187812 0,128,128 enhancer VISTA enhancer hs533 110120695|GeneID:110120695 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/9] | midbrain (mesencephalon)[9/9] VISTA enhancer hs533 | enhancer in: neural tube[9/9] | midbrain (mesencephalon)[9/9] -chr5 3197750 3198828 enhancer 0 + 3197750 3198828 0,128,128 enhancer VISTA enhancer hs754 110120760|GeneID:110120760 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/10] | forebrain[5/10] VISTA enhancer hs754 | enhancer in: hindbrain (rhombencephalon)[6/10] | forebrain[5/10] -chr5 3511863 3513285 enhancer 0 + 3511863 3513285 0,128,128 enhancer VISTA enhancer hs261 110120635|GeneID:110120635 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] VISTA enhancer hs261 | enhancer in: midbrain (mesencephalon)[7/8] -chr5 13737334 13741052 meiotic 0 + 13737334 13741052 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457585|GeneID:107457585 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr5 13737334 13741112 meiotic 0 + 13737334 13741112 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457585|GeneID:107457585 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr5 13737897 13741925 meiotic 0 + 13737897 13741925 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457585|GeneID:107457585 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr5 13738076 13739376 meiotic 0 + 13738076 13739376 160,82,45 recombination_feature hotspot J1 sub-region, crossovers mapped in sperm cells of males of European ancestry 107457585|GeneID:107457585 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] hotspot J1 sub-region, crossovers mapped in sperm cells of males of European ancestry -chr5 13739813 13741313 meiotic 0 + 13739813 13741313 160,82,45 recombination_feature hotspot J2 sub-region crossovers mapped in sperm cells of males of European ancestry 107457585|GeneID:107457585 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] hotspot J2 sub-region crossovers mapped in sperm cells of males of European ancestry -chr5 17302554 17303121 enhancer 0 + 17302554 17303121 0,128,128 enhancer amplified fragment containing most of the chr5:17302742-17303327 (GRCh37) CAGE region 108254683|GeneID:108254683 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr5:17302742-17303327 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr5 17302632 17303218 CAGE_cluster 0 + 17302632 17303218 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254683|GeneID:108254683 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr5 25077653 25083685 non-LTR retrotransposon:L1PA3 0 + 25077653 25083685 0,0,192 mobile_genetic_element direction; reverse 108175340|GeneID:108175340 direction; reverse -chr5 25082957 25082971 non_allelic_homologous 0 + 25082957 25082971 160,82,45 recombination_feature deletion patient 2 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the deletion patient 2 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a deletion 108175340|GeneID:108175340 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patient 2 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the deletion patient 2 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a deletion -chr5 25082970 25083033 non_allelic_homologous 0 + 25082970 25083033 160,82,45 recombination_feature duplication patient 2-8,10-15 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2-8,10-15 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a duplication 108175340|GeneID:108175340 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2-8,10-15 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2-8,10-15 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a duplication -chr5 25083032 25083174 non_allelic_homologous 0 + 25083032 25083174 160,82,45 recombination_feature duplication patient 9 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 9 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a duplication 108175340|GeneID:108175340 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 9 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the duplication patient 9 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a duplication -chr5 25083380 25083415 non_allelic_homologous 0 + 25083380 25083415 160,82,45 recombination_feature deletion patient 1 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the deletion patient 1 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a deletion 108175340|GeneID:108175340 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patient 1 5p14.1 distal NAHR recombination breakpoint sub-region, recombines with the deletion patient 1 5p14.1 proximal NAHR recombination breakpoint sub-region within the 5p14.1 proximal LINE-mediated recombination region, resulting in a deletion -chr5 25378529 25384556 non-LTR retrotransposon:L1PA2 0 + 25378529 25384556 0,0,192 mobile_genetic_element direction; reverse 108175341|GeneID:108175341 direction; reverse -chr5 25383829 25383844 non_allelic_homologous 0 + 25383829 25383844 160,82,45 recombination_feature deletion patient 2 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patient 2 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a deletion 108175341|GeneID:108175341 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patient 2 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patient 2 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a deletion -chr5 25383843 25383906 non_allelic_homologous 0 + 25383843 25383906 160,82,45 recombination_feature duplication patient 2-8,10-15 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2-8,10-15 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a duplication 108175341|GeneID:108175341 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 2-8,10-15 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 2-8,10-15 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a duplication -chr5 25383905 25384047 non_allelic_homologous 0 + 25383905 25384047 160,82,45 recombination_feature duplication patient 9 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 9 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a duplication 108175341|GeneID:108175341 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patient 9 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patient 9 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a duplication -chr5 25384253 25384288 non_allelic_homologous 0 + 25384253 25384288 160,82,45 recombination_feature deletion patient 1 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patient 1 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a deletion 108175341|GeneID:108175341 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patient 1 5p14.1 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patient 1 5p14.1 distal NAHR recombination breakpoint sub-region within the 5p14.1 distal LINE-mediated recombination region, resulting in a deletion -chr5 32759994 32760513 enhancer 0 + 32759994 32760513 0,128,128 enhancer amplified fragment containing the chr5:32760271-32760413 (GRCh37) CAGE region 108281130|GeneID:108281130,4883|GeneID:4883 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr5:32760271-32760413 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa and HepG2 cells -chr5 32760164 32760307 CAGE_cluster 0 + 32760164 32760307 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281130|GeneID:108281130,4883|GeneID:4883 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr5 40033221 40034224 enhancer 0 + 40033221 40034224 0,128,128 enhancer amplified fragment containing the chr5:40033325-40034325 (GRCh37) CAGE-defined region 108348025|GeneID:108348025 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr5:40033325-40034325 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr5 42422721 42423230 transcriptional_cis_regulatory_region 0 + 42422721 42423230 0,128,128 region -720 to -211 107963950|GeneID:107963950 19116246|PMID:19116246 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19116246] negative regulation of transcription -720 to -211 | negative regulation of transcription -chr5 42422721 42423807 promoter 0 + 42422721 42423807 0,128,128 promoter HindIII/PvuII fragment for V2P1 107963950|GeneID:107963950 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] HindIII/PvuII fragment for V2P1 -chr5 42423230 42423803 promoter 0 + 42423230 42423803 0,128,128 promoter P2 promoter; -211 to +362 relative to 5' most ovoid transcription start site (PMID:19116246) 107963950|GeneID:107963950 19116246|PMID:19116246 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19116246] P2 promoter; -211 to +362 relative to 5' most ovoid transcription start site (PMID:19116246) -chr5 42423370 42423405 protein_bind: ETS proto-oncogene 1, transcription factor 0 + 42423370 42423405 192,0,0 protein_binding_site c-ETS 107963950|GeneID:107963950 19116245|PMID:19116245 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19116245] positive regulation of transcription c-ETS | positive regulation of transcription | ETS proto-oncogene 1, transcription factor -chr5 42423412 42423513 promoter 0 + 42423412 42423513 0,128,128 promoter core promoter; -29 to +71 relative to 5' most ovoid transcription start site (PMID:19116246) 107963950|GeneID:107963950 19116246|PMID:19116246 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19116246] core promoter; -29 to +71 relative to 5' most ovoid transcription start site (PMID:19116246) -chr5 42423514 42423535 protein_bind: hes family bHLH transcription factor 1 0 + 42423514 42423535 192,0,0 protein_binding_site Hes1 site 1 107963950|GeneID:107963950 19116245|PMID:19116245 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19116245] negative regulation of transcription Hes1 site 1 | negative regulation of transcription | hes family bHLH transcription factor 1 -chr5 42423567 42423608 transcriptional_cis_regulatory_region 0 + 42423567 42423608 0,128,128 region +125 to +165 107963950|GeneID:107963950 19116246|PMID:19116246 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19116246] positive regulation of transcription +125 to +165 | positive regulation of transcription -chr5 42423710 42424479 promoter 0 + 42423710 42424479 0,128,128 promoter (-585)V9 promoter 107963950|GeneID:107963950 11316758|PMID:11316758 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11316758] (-585)V9 promoter -chr5 42424131 42424479 promoter 0 + 42424131 42424479 0,128,128 promoter (-165)V9 promoter 107963950|GeneID:107963950,2690|GeneID:2690 11316758|PMID:11316758 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11316758] (-165)V9 promoter -chr5 42424151 42424180 protein_bind: nuclear transcription factor Y 0 + 42424151 42424180 192,0,0 protein_binding_site V9 (CCAAT) 107963950|GeneID:107963950,2690|GeneID:2690 11316758|PMID:11316758 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11316758] V9 (CCAAT) | nuclear transcription factor Y -chr5 42424643 42425061 promoter 0 + 42424643 42425061 0,128,128 promoter SpeI/BxtXI fragment for V3P3 107963950|GeneID:107963950,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] SpeI/BxtXI fragment for V3P3 -chr5 42424718 42424758 protein_bind: zinc finger and BTB domain containing 7B 0 + 42424718 42424758 192,0,0 protein_binding_site GAGA1/2 107963950|GeneID:107963950,2690|GeneID:2690 21238539|PMID:21238539 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21238539] GAGA1/2 | zinc finger and BTB domain containing 7B -chr5 42424836 42424866 protein_bind: zinc finger and BTB domain containing 7B 0 + 42424836 42424866 192,0,0 protein_binding_site GAGA3 107963950|GeneID:107963950,2690|GeneID:2690 21238539|PMID:21238539 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21238539] GAGA3 | zinc finger and BTB domain containing 7B -chr5 42546318 42548212 promoter 0 + 42546318 42548212 0,128,128 promoter BamHI/KpnI fragment for V1 promoter; similar to V7P1 (PMID:17991764) 107963949|GeneID:107963949,2690|GeneID:2690 9075743|PMID:9075743,17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9075743, PMID:17991764] promoter in HepG2 liver cells BamHI/KpnI fragment for V1 promoter; similar to V7P1 (PMID:17991764) | promoter in HepG2 liver cells -chr5 42546358 42547569 transcriptional_cis_regulatory_region 0 + 42546358 42547569 0,128,128 region XbaI/BglII fragment for NRR3 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] negative regulation of transcription XbaI/BglII fragment for NRR3 | negative regulation of transcription -chr5 42546435 42546462 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 42546435 42546462 192,0,0 protein_binding_site HNF4 site 6 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17991764] negative regulation of transcription HNF4 site 6 | negative regulation of transcription | hepatocyte nuclear factor 4 alpha -chr5 42547563 42547829 transcriptional_cis_regulatory_region 0 + 42547563 42547829 0,128,128 region BglII/EcoRI fragment for PRR2 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] positive regulation of transcription BglII/EcoRI fragment for PRR2 | positive regulation of transcription -chr5 42547823 42548056 transcriptional_cis_regulatory_region 0 + 42547823 42548056 0,128,128 region EcoRI/PvuII fragment for NRR2 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] negative regulation of transcription EcoRI/PvuII fragment for NRR2 | negative regulation of transcription -chr5 42548050 42548212 promoter 0 + 42548050 42548212 0,128,128 promoter PvuII/KpnI fragment for -158 promoter; corresponds to PRR1 from PMID:17991764 107963949|GeneID:107963949,2690|GeneID:2690 10715538|PMID:10715538,17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10715538] PvuII/KpnI fragment for -158 promoter; corresponds to PRR1 from PMID:17991764 -chr5 42548050 42548360 promoter 0 + 42548050 42548360 0,128,128 promoter PvuII/BamHI fragment for V1P4 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] PvuII/BamHI fragment for V1P4 -chr5 42548050 42548360 transcriptional_cis_regulatory_region 0 + 42548050 42548360 0,128,128 region PvuII/BamHI fragment for NRR1 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] negative regulation of transcription PvuII/BamHI fragment for NRR1 | negative regulation of transcription -chr5 42548133 42548160 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 42548133 42548160 192,0,0 protein_binding_site HNF4 site 1 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17991764] postive regulation of transcription HNF4 site 1 | postive regulation of transcription | hepatocyte nuclear factor 4 alpha -chr5 42548225 42548257 protein_bind: zinc finger and BTB domain containing 7B 0 + 42548225 42548257 192,0,0 protein_binding_site GAGA site 107963949|GeneID:107963949,2690|GeneID:2690 21238539|PMID:21238539 EXISTENCE:protein binding evidence [ECO:0000024][PMID:21238539] GAGA site | zinc finger and BTB domain containing 7B -chr5 42548354 42549753 promoter 0 + 42548354 42549753 0,128,128 promoter BamHI/ScaI fragment for V4P1 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] BamHI/ScaI fragment for V4P1 -chr5 42549747 42550131 promoter 0 + 42549747 42550131 0,128,128 promoter 384 nt fragment for V8P1 107963949|GeneID:107963949,2690|GeneID:2690 17991764|PMID:17991764 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17991764] 384 nt fragment for V8P1 -chr5 44385695 44386743 enhancer 0 + 44385695 44386743 0,128,128 enhancer FGF10-int1 enhancer 109194135|GeneID:109194135 22303449|PMID:22303449 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:22303449] enhancer in cardiac outflow, forebrain, lens, pharyngeal arches, pancreas, motoneurons, dorsal root ganglion FGF10-int1 enhancer | enhancer in cardiac outflow, forebrain, lens, pharyngeal arches, pancreas, motoneurons, dorsal root ganglion -chr5 44385773 44385801 protein_bind: ISL LIM homeobox 1 0 + 44385773 44385801 192,0,0 protein_binding_site ISL1 site 109194135|GeneID:109194135 22303449|PMID:22303449 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22303449] ISL1 site | ISL LIM homeobox 1 -chr5 44385829 44385859 protein_bind: GATA binding protein 4 0 + 44385829 44385859 192,0,0 protein_binding_site GATA site 109194135|GeneID:109194135 22303449|PMID:22303449 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22303449] GATA site | GATA binding protein 4 -chr5 44389063 44390365 enhancer 0 + 44389063 44390365 0,128,128 enhancer VISTA enhancer hs516 110120690|GeneID:110120690,101927075|GeneID:101927075 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/6] VISTA enhancer hs516 | enhancer in: limb[4/6] -chr5 51039315 51040709 enhancer 0 + 51039315 51040709 0,128,128 enhancer VISTA enhancer hs215 106029245|GeneID:106029245 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[6/8] | cranial nerve[6/8] VISTA enhancer hs215 | enhancer in: dorsal root ganglion[6/8] | cranial nerve[6/8] -chr5 51039489 51040515 enhancer 0 + 51039489 51040515 0,128,128 enhancer CREST3 106029245|GeneID:106029245 15680372|PMID:15680372 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:15680372] enhancer in primary sensory neurons CREST3 | enhancer in primary sensory neurons -chr5 51095064 51096423 enhancer 0 + 51095064 51096423 0,128,128 enhancer VISTA enhancer hs1187 110121020|GeneID:110121020 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/7] | forebrain[7/7] | eye[5/7] VISTA enhancer hs1187 | enhancer in: hindbrain (rhombencephalon)[5/7] | forebrain[7/7] | eye[5/7] -chr5 51172115 51174155 enhancer 0 + 51172115 51174155 0,128,128 enhancer VISTA enhancer hs1321 110121055|GeneID:110121055 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[18/19] | cranial nerve[13/19] VISTA enhancer hs1321 | enhancer in: forebrain[18/19] | cranial nerve[13/19] -chr5 51185637 51186644 enhancer 0 + 51185637 51186644 0,128,128 enhancer VISTA enhancer hs586 110120712|GeneID:110120712 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[5/8] VISTA enhancer hs586 | enhancer in: nose[5/8] -chr5 51385156 51385685 enhancer 0 + 51385156 51385685 0,128,128 enhancer ISL1-reporter-2 109286569|GeneID:109286569,3670|GeneID:3670 23455426|PMID:23455426 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23455426] ISL1-reporter-2 -chr5 51385486 51385541 protein_bind: short stature homeobox 2 0 + 51385486 51385541 192,0,0 protein_binding_site oligo 1 109286569|GeneID:109286569,3670|GeneID:3670 23455426|PMID:23455426 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23455426] oligo 1 | short stature homeobox 2 -chr5 51385501 51385685 enhancer 0 + 51385501 51385685 0,128,128 enhancer ISL1-reporter-2del 3 109286569|GeneID:109286569,3670|GeneID:3670 23455426|PMID:23455426 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23455426] ISL1-reporter-2del 3 -chr5 51385569 51385625 protein_bind: short stature homeobox 2 0 + 51385569 51385625 192,0,0 protein_binding_site oligo 3 109286569|GeneID:109286569,3670|GeneID:3670 23455426|PMID:23455426 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23455426] oligo 3 | short stature homeobox 2 -chr5 51558609 51560379 enhancer 0 + 51558609 51560379 0,128,128 enhancer VISTA enhancer hs1419 106029243|GeneID:106029243 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[6/8] | cranial nerve[7/8] VISTA enhancer hs1419 | enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[6/8] | cranial nerve[7/8] -chr5 51559179 51559919 enhancer 0 + 51559179 51559919 0,128,128 enhancer CREST1 106029243|GeneID:106029243 15680372|PMID:15680372 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:15680372] enhancer in motor neurons CREST1 | enhancer in motor neurons -chr5 51664297 51665733 enhancer 0 + 51664297 51665733 0,128,128 enhancer VISTA enhancer hs543 110120697|GeneID:110120697 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[7/7] VISTA enhancer hs543 | enhancer in: ear[7/7] -chr5 51685619 51686204 enhancer 0 + 51685619 51686204 0,128,128 enhancer CREST2 106029244|GeneID:106029244 15680372|PMID:15680372 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:15680372] enhancer in spinal motor neurons CREST2 | enhancer in spinal motor neurons -chr5 51882317 51883198 enhancer 0 + 51882317 51883198 0,128,128 enhancer LF-SINE 106029242|GeneID:106029242 16625209|PMID:16625209 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16625209] enhancer in the head and spinal cord region, the dorsal apical ectodermal ridge, and genital eminence LF-SINE | enhancer in the head and spinal cord region, the dorsal apical ectodermal ridge, and genital eminence -chr5 53351148 53351748 enhancer 0 + 53351148 53351748 0,128,128 enhancer amplified fragment containing the chr5:52647008-52647556 (GRCh37) region with regulatory potential 108281172|GeneID:108281172 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr5:52647008-52647556 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa and HepG2 cells -chr5 53351177 53351726 epigenetically_modified_region 0 + 53351177 53351726 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells 108281172|GeneID:108281172 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells -chr5 56600345 56603242 enhancer 0 + 56600345 56603242 0,128,128 enhancer VISTA enhancer hs1638 110121170|GeneID:110121170 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/9] | forebrain[6/9] VISTA enhancer hs1638 | enhancer in: midbrain (mesencephalon)[5/9] | forebrain[6/9] -chr5 77645010 77645571 enhancer 0 + 77645010 77645571 0,128,128 enhancer VISTA enhancer hs262 110120636|GeneID:110120636 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/9] VISTA enhancer hs262 | enhancer in: forebrain[9/9] -chr5 77845918 77849307 enhancer 0 + 77845918 77849307 0,128,128 enhancer VISTA enhancer hs1783; chr5 NRF1 and E2F4 HCTs in TCBA and LOC101929154 intergenic region 108175351|GeneID:108175351 17130149|PMID:17130149,20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149, PMID:20363979] enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | forebrain[4/5] VISTA enhancer hs1783; chr5 NRF1 and E2F4 HCTs in TCBA and LOC101929154 intergenic region | enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | forebrain[4/5] -chr5 77846758 77847374 conserved_region 0 + 77846758 77847374 192,0,192 sequence_feature conserved region; HCT with multiple NRF1 binding motifs 108175351|GeneID:108175351 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple NRF1 binding motifs -chr5 77847045 77847968 conserved_region 0 + 77847045 77847968 192,0,192 sequence_feature conserved region; HCT with multiple E2F4 binding motifs 108175351|GeneID:108175351 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple E2F4 binding motifs -chr5 82023062 82025864 enhancer 0 + 82023062 82025864 0,128,128 enhancer VISTA enhancer hs1432 110121101|GeneID:110121101,83734|GeneID:83734 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/11] VISTA enhancer hs1432 | enhancer in: limb[10/11] -chr5 87787194 87788935 enhancer 0 + 87787194 87788935 0,128,128 enhancer VISTA enhancer hs853 110120789|GeneID:110120789 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/7] VISTA enhancer hs853 | enhancer in: forebrain[7/7] -chr5 87872596 87873616 enhancer 0 + 87872596 87873616 0,128,128 enhancer VISTA enhancer hs266 110120637|GeneID:110120637 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/10] VISTA enhancer hs266 | enhancer in: forebrain[9/10] -chr5 87944124 87945828 enhancer 0 + 87944124 87945828 0,128,128 enhancer VISTA enhancer hs267 110120638|GeneID:110120638 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[7/11] | midbrain (mesencephalon)[7/11] | forebrain[9/11] VISTA enhancer hs267 | enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[7/11] | midbrain (mesencephalon)[7/11] | forebrain[9/11] -chr5 88396336 88397448 enhancer 0 + 88396336 88397448 0,128,128 enhancer VISTA enhancer hs268 108348016|GeneID:108348016,100505894|GeneID:100505894 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] | forebrain[6/6] | cranial nerve[4/6] VISTA enhancer hs268 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[6/6] | forebrain[6/6] | cranial nerve[4/6] -chr5 88396714 88397591 enhancer 0 + 88396714 88397591 0,128,128 enhancer amplified fragment containing the chr5:87692532-87693408 (GRCh37) conserved CAGE region with expression in fetal brain, neurons and optic nerve 108348016|GeneID:108348016,100505894|GeneID:100505894 24670763|PMID:24670763 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:24670763] drives transgene expression in the brain and neural tube amplified fragment containing the chr5:87692532-87693408 (GRCh37) conserved CAGE region with expression in fetal brain, neurons and optic nerve | drives transgene expression in the brain and neural tube -chr5 88397115 88397339 conserved_region 0 + 88397115 88397339 192,0,192 sequence_feature conserved region; ultraconserved element uc.165 108348016|GeneID:108348016,100505894|GeneID:100505894 15131266|PMID:15131266,18176564|PMID:18176564 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:18176564, PMID:15131266] conserved region; ultraconserved element uc.165 -chr5 89252582 89254683 enhancer 0 + 89252582 89254683 0,128,128 enhancer VISTA enhancer hs503 110120688|GeneID:110120688,101929423|GeneID:101929423 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/8] VISTA enhancer hs503 | enhancer in: heart[8/8] -chr5 89377592 89378677 enhancer 0 + 89377592 89378677 0,128,128 enhancer VISTA enhancer hs789 110120771|GeneID:110120771,101929423|GeneID:101929423 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/7] VISTA enhancer hs789 | enhancer in: eye[3/7] -chr5 91632794 91633409 enhancer 0 + 91632794 91633409 0,128,128 enhancer VISTA enhancer hs269 110120640|GeneID:110120640 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[10/12] | midbrain (mesencephalon)[10/12] | forebrain[10/12] VISTA enhancer hs269 | enhancer in: hindbrain (rhombencephalon)[10/12] | midbrain (mesencephalon)[10/12] | forebrain[10/12] -chr5 91741070 91743082 enhancer 0 + 91741070 91743082 0,128,128 enhancer VISTA enhancer hs191 110120605|GeneID:110120605 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/9] VISTA enhancer hs191 | enhancer in: hindbrain (rhombencephalon)[6/9] -chr5 91975958 91977069 enhancer 0 + 91975958 91977069 0,128,128 enhancer VISTA enhancer hs1227 110121035|GeneID:110121035 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] VISTA enhancer hs1227 | enhancer in: midbrain (mesencephalon)[4/6] -chr5 92002366 92003176 enhancer 0 + 92002366 92003176 0,128,128 enhancer VISTA enhancer hs682 110120744|GeneID:110120744 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[5/8] VISTA enhancer hs682 | enhancer in: eye[5/8] -chr5 92146638 92148732 enhancer 0 + 92146638 92148732 0,128,128 enhancer VISTA enhancer hs952 110120808|GeneID:110120808 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[11/12] | hindbrain (rhombencephalon)[9/12] | midbrain (mesencephalon)[12/12] | dorsal root ganglion[12/12] | forebrain[9/12] | eye[12/12] | trigeminal V (ganglion, cranial)[11/12] | facial mesenchyme[12/12] VISTA enhancer hs952 | enhancer in: neural tube[11/12] | hindbrain (rhombencephalon)[9/12] | midbrain (mesencephalon)[12/12] | dorsal root ganglion[12/12] | forebrain[9/12] | eye[12/12] | trigeminal V (ganglion, cranial)[11/12] | facial mesenchyme[12/12] -chr5 92592137 92595317 enhancer 0 + 92592137 92595317 0,128,128 enhancer VISTA enhancer hs1577 110121147|GeneID:110121147 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/11] | forebrain[10/11] VISTA enhancer hs1577 | enhancer in: midbrain (mesencephalon)[6/11] | forebrain[10/11] -chr5 92605214 92606335 enhancer 0 + 92605214 92606335 0,128,128 enhancer VISTA enhancer hs1109 110120991|GeneID:110120991 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/11] VISTA enhancer hs1109 | enhancer in: limb[10/11] -chr5 92634454 92636327 enhancer 0 + 92634454 92636327 0,128,128 enhancer VISTA enhancer hs971 110120815|GeneID:110120815 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/8] | forebrain[6/8] | cranial nerve[6/8] VISTA enhancer hs971 | enhancer in: neural tube[6/8] | forebrain[6/8] | cranial nerve[6/8] -chr5 92695380 92697490 enhancer 0 + 92695380 92697490 0,128,128 enhancer VISTA enhancer hs1039 110120971|GeneID:110120971 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/7] | cranial nerve[7/7] VISTA enhancer hs1039 | enhancer in: limb[3/7] | cranial nerve[7/7] -chr5 92805803 92807830 enhancer 0 + 92805803 92807830 0,128,128 enhancer VISTA enhancer hs1079 110120982|GeneID:110120982 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] VISTA enhancer hs1079 | enhancer in: neural tube[6/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] -chr5 92884140 92885426 enhancer 0 + 92884140 92885426 0,128,128 enhancer VISTA enhancer hs1153 110121009|GeneID:110121009 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[3/10] | eye[7/10] VISTA enhancer hs1153 | enhancer in: branchial arch[3/10] | eye[7/10] -chr5 92977132 92978938 enhancer 0 + 92977132 92978938 0,128,128 enhancer VISTA enhancer hs1024 110120966|GeneID:110120966 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/9] VISTA enhancer hs1024 | enhancer in: forebrain[8/9] -chr5 92979073 92980376 enhancer 0 + 92979073 92980376 0,128,128 enhancer VISTA enhancer hs1049 110120974|GeneID:110120974 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[7/8] VISTA enhancer hs1049 | enhancer in: other[7/8] -chr5 93190359 93191647 enhancer 0 + 93190359 93191647 0,128,128 enhancer VISTA enhancer hs1170 110121012|GeneID:110121012 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[8/8] VISTA enhancer hs1170 | enhancer in: eye[8/8] -chr5 93278155 93281138 enhancer 0 + 93278155 93281138 0,128,128 enhancer VISTA enhancer hs1060 110120977|GeneID:110120977 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/14] | forebrain[10/14] VISTA enhancer hs1060 | enhancer in: hindbrain (rhombencephalon)[6/14] | forebrain[10/14] -chr5 93298995 93300770 enhancer 0 + 93298995 93300770 0,128,128 enhancer VISTA enhancer hs1172 110121013|GeneID:110121013 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/11] | eye[9/11] VISTA enhancer hs1172 | enhancer in: forebrain[9/11] | eye[9/11] -chr5 93475758 93477511 enhancer 0 + 93475758 93477511 0,128,128 enhancer VISTA enhancer hs546 110120699|GeneID:110120699 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[7/7] | eye[7/7] | nose[7/7] VISTA enhancer hs546 | enhancer in: limb[7/7] | eye[7/7] | nose[7/7] -chr5 93891278 93892616 enhancer 0 + 93891278 93892616 0,128,128 enhancer VISTA enhancer hs271 110120641|GeneID:110120641 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[11/14] | forebrain[13/14] VISTA enhancer hs271 | enhancer in: midbrain (mesencephalon)[11/14] | forebrain[13/14] -chr5 102663368 102668199 enhancer 0 + 102663368 102668199 0,128,128 enhancer VISTA enhancer hs1649 110121176|GeneID:110121176 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/9] | hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] | forebrain[8/9] | limb[6/9] | nose[7/9] | facial mesenchyme[7/9] | other[9/9] VISTA enhancer hs1649 | enhancer in: neural tube[7/9] | hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] | forebrain[8/9] | limb[6/9] | nose[7/9] | facial mesenchyme[7/9] | other[9/9] -chr5 107573814 107575311 enhancer 0 + 107573814 107575311 0,128,128 enhancer VISTA enhancer hs1734 110121194|GeneID:110121194 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/10] VISTA enhancer hs1734 | enhancer in: midbrain (mesencephalon)[8/10] -chr5 107964161 107967275 enhancer 0 + 107964161 107967275 0,128,128 enhancer VISTA enhancer hs1345 110121070|GeneID:110121070 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[12/12] | eye[11/12] VISTA enhancer hs1345 | enhancer in: forebrain[12/12] | eye[11/12] -chr5 124994955 124997237 enhancer 0 + 124994955 124997237 0,128,128 enhancer VISTA enhancer hs1375 110121084|GeneID:110121084 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/5] | midbrain (mesencephalon)[5/5] VISTA enhancer hs1375 | enhancer in: neural tube[5/5] | midbrain (mesencephalon)[5/5] -chr5 125315469 125318494 enhancer 0 + 125315469 125318494 0,128,128 enhancer VISTA enhancer hs1643 110121173|GeneID:110121173,101927421|GeneID:101927421 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] | other[3/4] VISTA enhancer hs1643 | enhancer in: forebrain[4/4] | other[3/4] -chr5 125372641 125374699 enhancer 0 + 125372641 125374699 0,128,128 enhancer VISTA enhancer hs1371 110121082|GeneID:110121082 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] | forebrain[8/8] | limb[6/8] VISTA enhancer hs1371 | enhancer in: midbrain (mesencephalon)[7/8] | forebrain[8/8] | limb[6/8] -chr5 126008813 126010550 enhancer 0 + 126008813 126010550 0,128,128 enhancer VISTA enhancer hs2325 110121303|GeneID:110121303 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/17] VISTA enhancer hs2325 | enhancer in: forebrain[4/17] -chr5 132063479 132064479 enhancer_blocking_element 0 + 132063479 132064479 0,128,128 insulator candidate insulator 5-1-1; CTCF association and DNase I hypersensitivity in multiple cell types 108449898|GeneID:108449898 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 5-1-1; CTCF association and DNase I hypersensitivity in multiple cell types | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr5 132063979 132064978 enhancer_blocking_element 0 + 132063979 132064978 0,128,128 insulator candidate insulator 5-1-2; CTCF association and DNase I hypersensitivity in multiple cell types 108449898|GeneID:108449898 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay and also by colony assays in K562 erythroleukemia cells candidate insulator 5-1-2; CTCF association and DNase I hypersensitivity in multiple cell types | blocks activity of an enhancer in a lentiviral reporter assay and also by colony assays in K562 erythroleukemia cells -chr5 132063979 132064978 insulator 0 + 132063979 132064978 0,128,128 region candidate insulator 5-1-2; CTCF association and DNase I hypersensitivity in multiple cell types 108449898|GeneID:108449898 24098520|PMID:24098520 EXISTENCE:in vivo assay evidence [ECO:0000178][PMID:24098520] protects against retroviral vector genotoxicity in a mouse in vivo tumor formation model candidate insulator 5-1-2; CTCF association and DNase I hypersensitivity in multiple cell types | protects against retroviral vector genotoxicity in a mouse in vivo tumor formation model -chr5 132064479 132065478 enhancer_blocking_element 0 + 132064479 132065478 0,128,128 insulator candidate insulator 5-1-3; CTCF association and DNase I hypersensitivity in multiple cell types 108449898|GeneID:108449898 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 5-1-3; CTCF association and DNase I hypersensitivity in multiple cell types | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr5 132079844 132079954 rep_origin: GM-CSF Ori1 (primer set 17 0 + 132079844 132079954 0,0,0 origin_of_replication GM-CSF Ori1 (primer set 17; PMID:16109380); peak of nascent strand synthesis determined by competitive PCR of size-fractionated nascent DNA 107198087|GeneID:107198087 16109380|PMID:16109380 EXISTENCE:fractionation evidence [ECO:0000100][PMID:16109380] GM-CSF Ori1 (primer set 17; PMID:16109380); peak of nascent strand synthesis determined by competitive PCR of size-fractionated nascent DNA -chr5 132085430 132085600 rep_origin: GM-CSF Ori2 (primer set 23 0 + 132085430 132085600 0,0,0 origin_of_replication GM-CSF Ori2 (primer set 23; PMID:16109380); peak of nascent strand synthesis determined by competitive PCR of size-fractionated nascent DNA 107198087|GeneID:107198087 16109380|PMID:16109380 EXISTENCE:fractionation evidence [ECO:0000100][PMID:16109380] GM-CSF Ori2 (primer set 23; PMID:16109380); peak of nascent strand synthesis determined by competitive PCR of size-fractionated nascent DNA -chr5 132265136 132266411 enhancer 0 + 132265136 132266411 0,128,128 enhancer VISTA enhancer hs1449 110121107|GeneID:110121107,8572|GeneID:8572 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[5/6] VISTA enhancer hs1449 | enhancer in: other[5/6] -chr5 132293366 132293985 enhancer 0 + 132293366 132293985 0,128,128 enhancer amplified fragment containing the chr5:131629178-131629624 (GRCh337) CAGE region 108281143|GeneID:108281143 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr5:131629178-131629624 (GRCh337) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr5 132293484 132293931 CAGE_cluster 0 + 132293484 132293931 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281143|GeneID:108281143 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr5 132629262 132630568 DNase_I_hypersensitive_site 0 + 132629262 132630568 0,128,128 region RHS5, includes two fragments, also known as RAD50-O; the nucleotide coordinates are approximate for this feature 106128901|GeneID:106128901,10111|GeneID:10111 15589174|PMID:15589174 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:15589174] RHS5, includes two fragments, also known as RAD50-O; the nucleotide coordinates are approximate for this feature -chr5 132629262 132642195 locus_control_region 0 + 132629262 132642195 0,128,128 locus_control_region human ortholog of the mouse Th2 locus control region; includes conserved DNase I hypersensitive sites RHS5-RHS7; human LCR activity is inferred from the orthologous mouse region 106128901|GeneID:106128901,10111|GeneID:10111 15507491|PMID:15507491,15589174|PMID:15589174 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:15589174, PMID:15507491] human ortholog of the mouse Th2 locus control region; includes conserved DNase I hypersensitive sites RHS5-RHS7; human LCR activity is inferred from the orthologous mouse region -chr5 132629756 132629777 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 1 0 + 132629756 132629777 192,0,0 protein_binding_site ETS-1-binding site 106128901|GeneID:106128901,10111|GeneID:10111 20038639|PMID:20038639 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20038639] ETS-1-binding site | v-ets avian erythroblastosis virus E26 oncogene homolog 1 -chr5 132635631 132637512 DNase_I_hypersensitive_site 0 + 132635631 132637512 0,128,128 region RHS6, includes two fragments, also known as RAD50-A and RAD50-B; the nucleotide coordinates are approximate for this feature 106128901|GeneID:106128901,10111|GeneID:10111 15589174|PMID:15589174 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:15589174] RHS6, includes two fragments, also known as RAD50-A and RAD50-B; the nucleotide coordinates are approximate for this feature -chr5 132640799 132642195 enhancer 0 + 132640799 132642195 0,128,128 enhancer RHS7_1396 bp enhancer fragment 106128901|GeneID:106128901,10111|GeneID:10111 24661001|PMID:24661001 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24661001] RHS7_1396 bp enhancer fragment -chr5 132641019 132642177 DNase_I_hypersensitive_site 0 + 132641019 132642177 0,128,128 region RHS7, also known as RAD50-C; the nucleotide coordinates are approximate for this feature 106128901|GeneID:106128901,10111|GeneID:10111 15589174|PMID:15589174 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:15589174] RHS7, also known as RAD50-C; the nucleotide coordinates are approximate for this feature -chr5 132641361 132641511 silencer 0 + 132641361 132641511 0,128,128 silencer RHS7_150 bp silencer fragment 106128901|GeneID:106128901,10111|GeneID:10111 24661001|PMID:24661001 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24661001] RHS7_150 bp silencer fragment -chr5 132641417 132641449 protein_bind: SMAD family member 3 0 + 132641417 132641449 192,0,0 protein_binding_site SMAD3-binding rs2240032C_Major fragment; binding is lost in the rs2240032 minor T allele 106128901|GeneID:106128901,10111|GeneID:10111 24661001|PMID:24661001,24866380|PMID:24866380 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24661001, PMID:24866380] SMAD3-binding rs2240032C_Major fragment; binding is lost in the rs2240032 minor T allele | SMAD family member 3 -chr5 132641417 132641449 protein_bind: Sp1 transcription factor 0 + 132641417 132641449 192,0,0 protein_binding_site SP1-binding rs2240032C_Major fragment 106128901|GeneID:106128901,10111|GeneID:10111 24661001|PMID:24661001 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24661001] SP1-binding rs2240032C_Major fragment | Sp1 transcription factor -chr5 135433908 135436454 enhancer 0 + 135433908 135436454 0,128,128 enhancer VISTA enhancer hs1473 110121118|GeneID:110121118 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[8/9] VISTA enhancer hs1473 | enhancer in: limb[8/9] -chr5 137694277 137697238 enhancer 0 + 137694277 137697238 0,128,128 enhancer VISTA enhancer hs2181 110121271|GeneID:110121271 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[9/9] VISTA enhancer hs2181 | enhancer in: blood vessels[9/9] -chr5 140786291 140786494 CpG island 0 + 140786291 140786494 192,0,192 sequence_feature CpG island 56117|GeneID:56117 CpG island -chr5 140787375 140788870 CpG island 0 + 140787375 140788870 192,0,192 sequence_feature CpG island 56117|GeneID:56117 CpG island -chr5 140794919 140795219 CpG island 0 + 140794919 140795219 192,0,192 sequence_feature CpG island 56146|GeneID:56146 CpG island -chr5 140796058 140797518 CpG island 0 + 140796058 140797518 192,0,192 sequence_feature CpG island 56146|GeneID:56146 CpG island -chr5 140801192 140801396 CpG island 0 + 140801192 140801396 192,0,192 sequence_feature CpG island 56146|GeneID:56146 CpG island -chr5 140802289 140803789 CpG island 0 + 140802289 140803789 192,0,192 sequence_feature CpG island 56145|GeneID:56145 CpG island -chr5 140807162 140807448 CpG island 0 + 140807162 140807448 192,0,192 sequence_feature CpG island 56144|GeneID:56144 CpG island -chr5 140807456 140807672 CpG island 0 + 140807456 140807672 192,0,192 sequence_feature CpG island 56144|GeneID:56144 CpG island -chr5 140808286 140808487 CpG island 0 + 140808286 140808487 192,0,192 sequence_feature CpG island 56144|GeneID:56144 CpG island -chr5 140808487 140809743 CpG island 0 + 140808487 140809743 192,0,192 sequence_feature CpG island 56144|GeneID:56144 CpG island -chr5 140821756 140822027 CpG island 0 + 140821756 140822027 192,0,192 sequence_feature CpG island 56144|GeneID:56144 CpG island -chr5 140822857 140824355 CpG island 0 + 140822857 140824355 192,0,192 sequence_feature CpG island 56143|GeneID:56143 CpG island -chr5 140828066 140828334 CpG island 0 + 140828066 140828334 192,0,192 sequence_feature CpG island 56142|GeneID:56142 CpG island -chr5 140829197 140830623 CpG island 0 + 140829197 140830623 192,0,192 sequence_feature CpG island 56142|GeneID:56142 CpG island -chr5 140834378 140834614 CpG island 0 + 140834378 140834614 192,0,192 sequence_feature CpG island 56142|GeneID:56142 CpG island -chr5 140834655 140834866 CpG island 0 + 140834655 140834866 192,0,192 sequence_feature CpG island 56141|GeneID:56141 CpG island -chr5 140835520 140836883 CpG island 0 + 140835520 140836883 192,0,192 sequence_feature CpG island 56141|GeneID:56141 CpG island -chr5 140841296 140841572 CpG island 0 + 140841296 140841572 192,0,192 sequence_feature CpG island 56141|GeneID:56141 CpG island -chr5 140842420 140842621 CpG island 0 + 140842420 140842621 192,0,192 sequence_feature CpG island 56140|GeneID:56140 CpG island -chr5 140842621 140843862 CpG island 0 + 140842621 140843862 192,0,192 sequence_feature CpG island 56140|GeneID:56140 CpG island -chr5 140848477 140848702 CpG island 0 + 140848477 140848702 192,0,192 sequence_feature CpG island 9752|GeneID:9752 CpG island -chr5 140849602 140851100 CpG island 0 + 140849602 140851100 192,0,192 sequence_feature CpG island 9752|GeneID:9752 CpG island -chr5 140856017 140856288 CpG island 0 + 140856017 140856288 192,0,192 sequence_feature CpG island 56139|GeneID:56139 CpG island -chr5 140857160 140858650 CpG island 0 + 140857160 140858650 192,0,192 sequence_feature CpG island 56139|GeneID:56139 CpG island -chr5 140862478 140862694 CpG island 0 + 140862478 140862694 192,0,192 sequence_feature CpG island 26307|GeneID:26307 CpG island -chr5 140862694 140863597 CpG island 0 + 140862694 140863597 192,0,192 sequence_feature CpG island 56139|GeneID:56139 CpG island -chr5 140869079 140869337 CpG island 0 + 140869079 140869337 192,0,192 sequence_feature CpG island 56138|GeneID:56138 CpG island -chr5 140870147 140870350 CpG island 0 + 140870147 140870350 192,0,192 sequence_feature CpG island 56138|GeneID:56138 CpG island -chr5 140870350 140871713 CpG island 0 + 140870350 140871713 192,0,192 sequence_feature CpG island 56138|GeneID:56138 CpG island -chr5 140875432 140875632 CpG island 0 + 140875432 140875632 192,0,192 sequence_feature CpG island 56137|GeneID:56137 CpG island -chr5 140875633 140875849 CpG island 0 + 140875633 140875849 192,0,192 sequence_feature CpG island 56137|GeneID:56137 CpG island -chr5 140876588 140876794 CpG island 0 + 140876588 140876794 192,0,192 sequence_feature CpG island 56137|GeneID:56137 CpG island -chr5 140876794 140878059 CpG island 0 + 140876794 140878059 192,0,192 sequence_feature CpG island 56137|GeneID:56137 CpG island -chr5 140882252 140882452 CpG island 0 + 140882252 140882452 192,0,192 sequence_feature CpG island 56137|GeneID:56137 CpG island -chr5 140883383 140884909 CpG island 0 + 140883383 140884909 192,0,192 sequence_feature CpG island 56136|GeneID:56136 CpG island -chr5 140925987 140926189 CpG island 0 + 140925987 140926189 192,0,192 sequence_feature CpG island 56136|GeneID:56136 CpG island -chr5 140926190 140928516 CpG island 0 + 140926190 140928516 192,0,192 sequence_feature CpG island 56136|GeneID:56136 CpG island -chr5 140966201 140966430 CpG island 0 + 140966201 140966430 192,0,192 sequence_feature CpG island 56134|GeneID:56134 CpG island -chr5 140966451 140966651 CpG island 0 + 140966451 140966651 192,0,192 sequence_feature CpG island 56134|GeneID:56134 CpG island -chr5 140966651 140966896 CpG island 0 + 140966651 140966896 192,0,192 sequence_feature CpG island 56134|GeneID:56134 CpG island -chr5 140966897 140968212 CpG island 0 + 140966897 140968212 192,0,192 sequence_feature CpG island 56134|GeneID:56134 CpG island -chr5 141052003 141052210 CpG island 0 + 141052003 141052210 192,0,192 sequence_feature CpG island 29930|GeneID:29930 CpG island -chr5 141076283 141076591 CpG island 0 + 141076283 141076591 192,0,192 sequence_feature CpG island 56116|GeneID:56116 CpG island -chr5 141078348 141078561 CpG island 0 + 141078348 141078561 192,0,192 sequence_feature CpG island 56116|GeneID:56116 CpG island -chr5 141096012 141097428 CpG island 0 + 141096012 141097428 192,0,192 sequence_feature CpG island 56116|GeneID:56116 CpG island -chr5 141101933 141103286 CpG island 0 + 141101933 141103286 192,0,192 sequence_feature CpG island 56132|GeneID:56132 CpG island -chr5 141123221 141124573 CpG island 0 + 141123221 141124573 192,0,192 sequence_feature CpG island 56131|GeneID:56131 CpG island -chr5 141136693 141138070 CpG island 0 + 141136693 141138070 192,0,192 sequence_feature CpG island 26167|GeneID:26167 CpG island -chr5 141150719 141150950 CpG island 0 + 141150719 141150950 192,0,192 sequence_feature CpG island 56130|GeneID:56130 CpG island -chr5 141151528 141152808 CpG island 0 + 141151528 141152808 192,0,192 sequence_feature CpG island 56130|GeneID:56130 CpG island -chr5 141157270 141158605 CpG island 0 + 141157270 141158605 192,0,192 sequence_feature CpG island 56116|GeneID:56116 CpG island -chr5 141174091 141175433 CpG island 0 + 141174091 141175433 192,0,192 sequence_feature CpG island 56129|GeneID:56129 CpG island -chr5 141179299 141180565 CpG island 0 + 141179299 141180565 192,0,192 sequence_feature CpG island 56116|GeneID:56116 CpG island -chr5 141183856 141185099 CpG island 0 + 141183856 141185099 192,0,192 sequence_feature CpG island 57717|GeneID:57717 CpG island -chr5 141188571 141189916 CpG island 0 + 141188571 141189916 192,0,192 sequence_feature CpG island 56127|GeneID:56127 CpG island -chr5 141193805 141195136 CpG island 0 + 141193805 141195136 192,0,192 sequence_feature CpG island 56126|GeneID:56126 CpG island -chr5 141201071 141202281 CpG island 0 + 141201071 141202281 192,0,192 sequence_feature CpG island 56125|GeneID:56125 CpG island -chr5 141210159 141211458 CpG island 0 + 141210159 141211458 192,0,192 sequence_feature CpG island 56124|GeneID:56124 CpG island -chr5 141215412 141216708 CpG island 0 + 141215412 141216708 192,0,192 sequence_feature CpG island 56123|GeneID:56123 CpG island -chr5 141224782 141226063 CpG island 0 + 141224782 141226063 192,0,192 sequence_feature CpG island 56122|GeneID:56122 CpG island -chr5 141235816 141237150 CpG island 0 + 141235816 141237150 192,0,192 sequence_feature CpG island 54660|GeneID:54660 CpG island -chr5 141241215 141248234 CpG island 0 + 141241215 141248234 192,0,192 sequence_feature CpG island 56116|GeneID:56116 CpG island -chr5 141246124 141246362 CpG island 0 + 141246124 141246362 192,0,192 sequence_feature CpG island 56121|GeneID:56121 CpG island -chr5 141246831 141248107 CpG island 0 + 141246831 141248107 192,0,192 sequence_feature CpG island 56121|GeneID:56121 CpG island -chr5 141303622 141304661 CpG island 0 + 141303622 141304661 192,0,192 sequence_feature CpG island CpG island -chr5 141320536 141320987 CpG island 0 + 141320536 141320987 192,0,192 sequence_feature CpG island CpG island -chr5 141332188 141333217 CpG island 0 + 141332188 141333217 192,0,192 sequence_feature CpG island 56114|GeneID:56114 CpG island -chr5 141334308 141334559 CpG island 0 + 141334308 141334559 192,0,192 sequence_feature CpG island 56114|GeneID:56114 CpG island -chr5 141339013 141339213 CpG island 0 + 141339013 141339213 192,0,192 sequence_feature CpG island 56113|GeneID:56113 CpG island -chr5 141339552 141339753 CpG island 0 + 141339552 141339753 192,0,192 sequence_feature CpG island 56113|GeneID:56113 CpG island -chr5 141340531 141341464 CpG island 0 + 141340531 141341464 192,0,192 sequence_feature CpG island 56113|GeneID:56113 CpG island -chr5 141344028 141344244 CpG island 0 + 141344028 141344244 192,0,192 sequence_feature CpG island 56113|GeneID:56113 CpG island -chr5 141345576 141346557 CpG island 0 + 141345576 141346557 192,0,192 sequence_feature CpG island 56112|GeneID:56112 CpG island -chr5 141351591 141352828 CpG island 0 + 141351591 141352828 192,0,192 sequence_feature CpG island 56104|GeneID:56104 CpG island -chr5 141355065 141355266 CpG island 0 + 141355065 141355266 192,0,192 sequence_feature CpG island 56111|GeneID:56111 CpG island -chr5 141355266 141355532 CpG island 0 + 141355266 141355532 192,0,192 sequence_feature CpG island 56111|GeneID:56111 CpG island -chr5 141356937 141357465 CpG island 0 + 141356937 141357465 192,0,192 sequence_feature CpG island 56111|GeneID:56111 CpG island -chr5 141360123 141360323 CpG island 0 + 141360123 141360323 192,0,192 sequence_feature CpG island 56111|GeneID:56111 CpG island -chr5 141361508 141362579 CpG island 0 + 141361508 141362579 192,0,192 sequence_feature CpG island 56103|GeneID:56103 CpG island -chr5 141364318 141364523 CpG island 0 + 141364318 141364523 192,0,192 sequence_feature CpG island 56103|GeneID:56103 CpG island -chr5 141365875 141366712 CpG island 0 + 141365875 141366712 192,0,192 sequence_feature CpG island 56110|GeneID:56110 CpG island -chr5 141370372 141370575 CpG island 0 + 141370372 141370575 192,0,192 sequence_feature CpG island 56102|GeneID:56102 CpG island -chr5 141371728 141372764 CpG island 0 + 141371728 141372764 192,0,192 sequence_feature CpG island 56102|GeneID:56102 CpG island -chr5 141374044 141374317 CpG island 0 + 141374044 141374317 192,0,192 sequence_feature CpG island 56102|GeneID:56102 CpG island -chr5 141375505 141376902 CpG island 0 + 141375505 141376902 192,0,192 sequence_feature CpG island 56109|GeneID:56109 CpG island -chr5 141382806 141383006 CpG island 0 + 141382806 141383006 192,0,192 sequence_feature CpG island 56108|GeneID:56108 CpG island -chr5 141383006 141385246 CpG island 0 + 141383006 141385246 192,0,192 sequence_feature CpG island 56108|GeneID:56108 CpG island -chr5 141387836 141388036 CpG island 0 + 141387836 141388036 192,0,192 sequence_feature CpG island 56108|GeneID:56108 CpG island -chr5 141389244 141390302 CpG island 0 + 141389244 141390302 192,0,192 sequence_feature CpG island 8641|GeneID:8641 CpG island -chr5 141392792 141393038 CpG island 0 + 141392792 141393038 192,0,192 sequence_feature CpG island 9708|GeneID:9708 CpG island -chr5 141393334 141393534 CpG island 0 + 141393334 141393534 192,0,192 sequence_feature CpG island 9708|GeneID:9708 CpG island -chr5 141394236 141395253 CpG island 0 + 141394236 141395253 192,0,192 sequence_feature CpG island 9708|GeneID:9708 CpG island -chr5 141397800 141398284 CpG island 0 + 141397800 141398284 192,0,192 sequence_feature CpG island 9708|GeneID:9708 CpG island -chr5 141399458 141400552 CpG island 0 + 141399458 141400552 192,0,192 sequence_feature CpG island 56101|GeneID:56101 CpG island -chr5 141402999 141403275 CpG island 0 + 141402999 141403275 192,0,192 sequence_feature CpG island 56107|GeneID:56107 CpG island -chr5 141403418 141403626 CpG island 0 + 141403418 141403626 192,0,192 sequence_feature CpG island 56107|GeneID:56107 CpG island -chr5 141407869 141408523 CpG island 0 + 141407869 141408523 192,0,192 sequence_feature CpG island 56107|GeneID:56107 CpG island -chr5 141409536 141410617 CpG island 0 + 141409536 141410617 192,0,192 sequence_feature CpG island 56100|GeneID:56100 CpG island -chr5 141413251 141413457 CpG island 0 + 141413251 141413457 192,0,192 sequence_feature CpG island 56106|GeneID:56106 CpG island -chr5 141413664 141413866 CpG island 0 + 141413664 141413866 192,0,192 sequence_feature CpG island 56106|GeneID:56106 CpG island -chr5 141414728 141415661 CpG island 0 + 141414728 141415661 192,0,192 sequence_feature CpG island 56106|GeneID:56106 CpG island -chr5 141417563 141417763 CpG island 0 + 141417563 141417763 192,0,192 sequence_feature CpG island 56106|GeneID:56106 CpG island -chr5 141417763 141418169 CpG island 0 + 141417763 141418169 192,0,192 sequence_feature CpG island 56099|GeneID:56099 CpG island -chr5 141419188 141420234 CpG island 0 + 141419188 141420234 192,0,192 sequence_feature CpG island 56099|GeneID:56099 CpG island -chr5 141421166 141421372 CpG island 0 + 141421166 141421372 192,0,192 sequence_feature CpG island 56105|GeneID:56105 CpG island -chr5 141422769 141423022 CpG island 0 + 141422769 141423022 192,0,192 sequence_feature CpG island 56105|GeneID:56105 CpG island -chr5 141423022 141423672 CpG island 0 + 141423022 141423672 192,0,192 sequence_feature CpG island 56105|GeneID:56105 CpG island -chr5 141426255 141426456 CpG island 0 + 141426255 141426456 192,0,192 sequence_feature CpG island 56105|GeneID:56105 CpG island -chr5 141427622 141428523 CpG island 0 + 141427622 141428523 192,0,192 sequence_feature CpG island 56105|GeneID:56105 CpG island -chr5 141428954 141429165 CpG island 0 + 141428954 141429165 192,0,192 sequence_feature CpG island 56105|GeneID:56105 CpG island -chr5 141430745 141431083 CpG island 0 + 141430745 141431083 192,0,192 sequence_feature CpG island 26025|GeneID:26025 CpG island -chr5 141431220 141431641 CpG island 0 + 141431220 141431641 192,0,192 sequence_feature CpG island 26025|GeneID:26025 CpG island -chr5 141432263 141433366 CpG island 0 + 141432263 141433366 192,0,192 sequence_feature CpG island 26025|GeneID:26025 CpG island -chr5 141441547 141442230 CpG island 0 + 141441547 141442230 192,0,192 sequence_feature CpG island 84055|GeneID:84055 CpG island -chr5 141475757 141475975 CpG island 0 + 141475757 141475975 192,0,192 sequence_feature CpG island 26025|GeneID:26025 CpG island -chr5 141476538 141476956 CpG island 0 + 141476538 141476956 192,0,192 sequence_feature CpG island 5098|GeneID:5098 CpG island -chr5 141478258 141478579 CpG island 0 + 141478258 141478579 192,0,192 sequence_feature CpG island 5098|GeneID:5098 CpG island -chr5 141484847 141485308 CpG island 0 + 141484847 141485308 192,0,192 sequence_feature CpG island 5098|GeneID:5098 CpG island -chr5 141485697 141485898 CpG island 0 + 141485697 141485898 192,0,192 sequence_feature CpG island 56098|GeneID:56098 CpG island -chr5 141491310 141493618 CpG island 0 + 141491310 141493618 192,0,192 sequence_feature CpG island 56097|GeneID:56097 CpG island -chr5 141512551 141512765 CpG island 0 + 141512551 141512765 192,0,192 sequence_feature CpG island 56097|GeneID:56097 CpG island -chr5 141513139 141513947 CpG island 0 + 141513139 141513947 192,0,192 sequence_feature CpG island CpG island -chr5 142550489 142552711 enhancer 0 + 142550489 142552711 0,128,128 enhancer VISTA enhancer hs1640 110121171|GeneID:110121171 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: tail[5/7] VISTA enhancer hs1640 | enhancer in: tail[5/7] -chr5 142621296 142622321 promoter 0 + 142621296 142622321 0,128,128 promoter -985 to +40 promoter 109113862|GeneID:109113862 10849427|PMID:10849427 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10849427] -985 to +40 promoter -chr5 142621335 142621407 nucleotide_motif 0 + 142621335 142621407 192,0,192 sequence_feature nucleotide motif; homopurine stretch 109113862|GeneID:109113862 7533902|PMID:7533902 COORDINATES:motif similarity evidence [ECO:0000028][PMID:7533902] may form a structure sensitive to single-strand nuclease cleavage nucleotide motif; homopurine stretch | may form a structure sensitive to single-strand nuclease cleavage -chr5 142644135 142644480 promoter 0 + 142644135 142644480 0,128,128 promoter -264 to +81 promoter 109113860|GeneID:109113860 9719443|PMID:9719443 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9719443] -264 to +81 promoter -chr5 142686035 142686606 promoter 0 + 142686035 142686606 0,128,128 promoter -540 to +31 promoter 109113859|GeneID:109113859 11175337|PMID:11175337 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:11175337] drives expression in the brain -540 to +31 promoter | drives expression in the brain -chr5 142686035 142686899 promoter 0 + 142686035 142686899 0,128,128 promoter -891 to +31 NcoI/DraIII promoter 109113859|GeneID:109113859 7713933|PMID:7713933 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7713933] -891 to +31 NcoI/DraIII promoter -chr5 142686532 142686550 protein_bind: regulatory factors X1, 2, 3 0 + 142686532 142686550 192,0,0 protein_binding_site -484 to -467 109113859|GeneID:109113859 20189986|PMID:20189986,22415835|PMID:22415835 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20189986, PMID:22415835] -484 to -467 | regulatory factors X1, 2, 3 -chr5 142686532 142686558 enhancer 0 + 142686532 142686558 0,128,128 enhancer RR-2; -492 to -467 109113859|GeneID:109113859 9054460|PMID:9054460 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9054460] RR-2; -492 to -467 -chr5 142686532 142686558 protein_bind: transcription factor 4 0 + 142686532 142686558 192,0,0 protein_binding_site -492 to -467 109113859|GeneID:109113859 9668116|PMID:9668116 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9668116] -492 to -467 | transcription factor 4 -chr5 146878727 146878759 tandem 0 + 146878727 146878759 0,0,192 repeat_region 108660405|GeneID:108660405 repeat_region -chr5 146878728 146878758 repeat_instability_region 0 + 146878728 146878758 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 12 108660405|GeneID:108660405 10581021|PMID:10581021 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:10581021] repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 12 -chr5 148223982 148224556 enhancer 0 + 148223982 148224556 0,128,128 enhancer amplified fragment containing the FANTOM5 chr5:147603808-147604119 (GRCh37) CAGE region 108178993|GeneID:108178993 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the FANTOM5 chr5:147603808-147604119 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr5 148224244 148224556 CAGE_cluster 0 + 148224244 148224556 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108178993|GeneID:108178993 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr5 149422129 149425513 enhancer 0 + 149422129 149425513 0,128,128 enhancer VISTA enhancer hs1752 110121202|GeneID:110121202,728264|GeneID:728264 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/6] | other[4/6] | liver[4/6] VISTA enhancer hs1752 | enhancer in: heart[5/6] | other[4/6] | liver[4/6] -chr5 154583640 154584192 enhancer 0 + 154583640 154584192 0,128,128 enhancer amplified fragment containing the chr5:153963327-153963532 (GRCh37) CAGE region 108228201|GeneID:108228201 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr5:153963327-153963532 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr5 154583766 154583972 CAGE_cluster 0 + 154583766 154583972 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108228201|GeneID:108228201 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr5 158162020 158163469 enhancer 0 + 158162020 158163469 0,128,128 enhancer VISTA enhancer hs1130 110121000|GeneID:110121000 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/10] VISTA enhancer hs1130 | enhancer in: limb[6/10] -chr5 158590759 158592059 enhancer 0 + 158590759 158592059 0,128,128 enhancer VISTA enhancer hs1208 110121027|GeneID:110121027 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[9/10] | branchial arch[9/10] VISTA enhancer hs1208 | enhancer in: limb[9/10] | branchial arch[9/10] -chr5 158716415 158717717 enhancer 0 + 158716415 158717717 0,128,128 enhancer VISTA enhancer hs813 110120777|GeneID:110120777 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/9] VISTA enhancer hs813 | enhancer in: midbrain (mesencephalon)[3/9] -chr5 158913953 158915603 enhancer 0 + 158913953 158915603 0,128,128 enhancer VISTA enhancer hs230 110120620|GeneID:110120620 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] VISTA enhancer hs230 | enhancer in: neural tube[7/8] -chr5 159059111 159060490 enhancer 0 + 159059111 159060490 0,128,128 enhancer VISTA enhancer hs1022 110120965|GeneID:110120965 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[9/11] | dorsal root ganglion[8/11] | forebrain[6/11] | trigeminal V (ganglion, cranial)[10/11] | cranial nerve[9/11] VISTA enhancer hs1022 | enhancer in: neural tube[10/11] | hindbrain (rhombencephalon)[10/11] | midbrain (mesencephalon)[9/11] | dorsal root ganglion[8/11] | forebrain[6/11] | trigeminal V (ganglion, cranial)[10/11] | cranial nerve[9/11] -chr5 159081833 159083129 enhancer 0 + 159081833 159083129 0,128,128 enhancer VISTA enhancer hs1117 110120995|GeneID:110120995 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | forebrain[7/8] VISTA enhancer hs1117 | enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | forebrain[7/8] -chr5 159090776 159091906 enhancer 0 + 159090776 159091906 0,128,128 enhancer VISTA enhancer hs1123 110120998|GeneID:110120998 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: cranial nerve[5/9] VISTA enhancer hs1123 | enhancer in: cranial nerve[5/9] -chr5 171031787 171033093 enhancer 0 + 171031787 171033093 0,128,128 enhancer VISTA enhancer hs608 110120714|GeneID:110120714,64901|GeneID:64901 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/9] | dorsal root ganglion[7/9] VISTA enhancer hs608 | enhancer in: neural tube[7/9] | dorsal root ganglion[7/9] -chr5 171044248 171045366 enhancer 0 + 171044248 171045366 0,128,128 enhancer VISTA enhancer hs693 110120747|GeneID:110120747,64901|GeneID:64901 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/8] | trigeminal V (ganglion, cranial)[5/8] VISTA enhancer hs693 | enhancer in: dorsal root ganglion[5/8] | trigeminal V (ganglion, cranial)[5/8] -chr5 171200985 171203014 enhancer 0 + 171200985 171203014 0,128,128 enhancer VISTA enhancer hs278 110120643|GeneID:110120643,64901|GeneID:64901 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/11] | melanocytes[10/11] VISTA enhancer hs278 | enhancer in: hindbrain (rhombencephalon)[6/11] | melanocytes[10/11] -chr5 172749884 172750234 enhancer 0 + 172749884 172750234 0,128,128 enhancer heart enhancer 25 108004526|GeneID:108004526 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 25 | enhancer in heart -chr5 172771669 172774006 enhancer 0 + 172771669 172774006 0,128,128 enhancer VISTA enhancer hs1828 110121211|GeneID:110121211 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/11] | hindbrain (rhombencephalon)[5/11] VISTA enhancer hs1828 | enhancer in: neural tube[5/11] | hindbrain (rhombencephalon)[5/11] -chr5 173265197 173269966 enhancer 0 + 173265197 173269966 0,128,128 enhancer VISTA enhancer hs2185 110121272|GeneID:110121272 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/6] VISTA enhancer hs2185 | enhancer in: heart[4/6] -chr5 174733170 174734831 enhancer 0 + 174733170 174734831 0,128,128 enhancer VISTA enhancer hs1256 110121041|GeneID:110121041 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/9] | forebrain[9/9] | limb[7/9] | nose[3/9] VISTA enhancer hs1256 | enhancer in: hindbrain (rhombencephalon)[7/9] | forebrain[9/9] | limb[7/9] | nose[3/9] -chr5 176072562 176075552 non_allelic_homologous 0 + 176072562 176075552 160,82,45 recombination_feature PLCR-B recombination region, recombines with the DLCR-2B recombination region 105980006|GeneID:105980006,202134|GeneID:202134 15580547|PMID:15580547,15640245|PMID:15640245 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15580547, PMID:15640245] PLCR-B recombination region, recombines with the DLCR-2B recombination region -chr5 176649730 176651529 enhancer 0 + 176649730 176651529 0,128,128 enhancer VISTA enhancer hs2007 110121241|GeneID:110121241,26262|GeneID:26262 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/7] VISTA enhancer hs2007 | enhancer in: heart[3/7] -chr5 177086542 177086943 DNase_I_hypersensitive_site 0 + 177086542 177086943 0,128,128 region HSS I-II; the nucleotide coordinates are approximate for this feature 109279841|GeneID:109279841 12447688|PMID:12447688 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:12447688] HSS I-II; the nucleotide coordinates are approximate for this feature -chr5 177086795 177087015 promoter 0 + 177086795 177087015 0,128,128 promoter -115 to +99 promoter fragment 109279841|GeneID:109279841 11981041|PMID:11981041 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11981041] -115 to +99 promoter fragment -chr5 177086820 177086860 protein_bind: Sp1 and Sp3 transcription factors 0 + 177086820 177086860 192,0,0 protein_binding_site fragment B 109279841|GeneID:109279841 15467729|PMID:15467729 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15467729] fragment B | Sp1 and Sp3 transcription factors -chr5 177086850 177086890 protein_bind: IKAROS family zinc finger 1 0 + 177086850 177086890 192,0,0 protein_binding_site fragment C 109279841|GeneID:109279841 11981041|PMID:11981041 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11981041] fragment C | IKAROS family zinc finger 1 -chr5 177086850 177086890 protein_bind: Sp1 and Sp3 transcription factors 0 + 177086850 177086890 192,0,0 protein_binding_site fragment C 109279841|GeneID:109279841 15467729|PMID:15467729 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15467729] fragment C | Sp1 and Sp3 transcription factors -chr5 177086974 177087575 DNase_I_hypersensitive_site 0 + 177086974 177087575 0,128,128 region HSS III; the nucleotide coordinates are approximate for this feature 109279841|GeneID:109279841,2264|GeneID:2264 12447688|PMID:12447688 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:12447688] HSS III; the nucleotide coordinates are approximate for this feature -chr5 177086980 177087431 enhancer 0 + 177086980 177087431 0,128,128 enhancer NgoMIV fragment 109279841|GeneID:109279841,2264|GeneID:2264 12447688|PMID:12447688 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12447688] NgoMIV fragment -chr5 177087012 177087039 protein_bind: Sp1 transcription factor 0 + 177087012 177087039 192,0,0 protein_binding_site FpD 109279841|GeneID:109279841,2264|GeneID:2264 12447688|PMID:12447688 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12447688] FpD | Sp1 transcription factor -chr5 177087205 177087240 protein_bind: HNF1 homeobox A 0 + 177087205 177087240 192,0,0 protein_binding_site FpA 109279841|GeneID:109279841,2264|GeneID:2264 12447688|PMID:12447688 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12447688] positive regulation of expression FpA | positive regulation of expression | HNF1 homeobox A -chr5 177087283 177087309 protein_bind: HNF1 homeobox A 0 + 177087283 177087309 192,0,0 protein_binding_site FpB 109279841|GeneID:109279841,2264|GeneID:2264 12447688|PMID:12447688 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12447688] positive regulation of expression FpB | positive regulation of expression | HNF1 homeobox A -chr5 177087343 177087373 protein_bind: Sp1 transcription factor 0 + 177087343 177087373 192,0,0 protein_binding_site FpC 109279841|GeneID:109279841,2264|GeneID:2264 12447688|PMID:12447688 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12447688] FpC | Sp1 transcription factor -chr5 177389374 177392188 enhancer 0 + 177389374 177392188 0,128,128 enhancer VISTA enhancer hs2229 110121284|GeneID:110121284,6569|GeneID:6569 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: trigeminal V (ganglion, cranial)[4/7] VISTA enhancer hs2229 | enhancer in: trigeminal V (ganglion, cranial)[4/7] -chr5 178018186 178021176 non_allelic_homologous 0 + 178018186 178021176 160,82,45 recombination_feature DLCR-2B recombination region, recombines with the PLCR-B recombination region 105980008|GeneID:105980008,653316|GeneID:653316 15580547|PMID:15580547,15640245|PMID:15640245 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15580547, PMID:15640245] DLCR-2B recombination region, recombines with the PLCR-B recombination region -chr5_KI270796v1_alt 36004 39029 enhancer 0 + 36004 39029 0,128,128 enhancer VISTA enhancer hs1643 110121173|GeneID:110121173,101927421|GeneID:101927421 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] | other[3/4] VISTA enhancer hs1643 | enhancer in: forebrain[4/4] | other[3/4] -chr5_KI270796v1_alt 93176 95234 enhancer 0 + 93176 95234 0,128,128 enhancer VISTA enhancer hs1371 110121082|GeneID:110121082 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/8] | forebrain[8/8] | limb[6/8] VISTA enhancer hs1371 | enhancer in: midbrain (mesencephalon)[7/8] | forebrain[8/8] | limb[6/8] -chr6 2853826 2854567 enhancer 0 + 2853826 2854567 0,128,128 enhancer 106794091|GeneID:106794091 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6 2982345 2982924 enhancer 0 + 2982345 2982924 0,128,128 enhancer amplified fragment containing the chr6:2982794-2982947 (GRCh37) CAGE region 108281148|GeneID:108281148 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr6:2982794-2982947 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr6 2982559 2982713 CAGE_cluster 0 + 2982559 2982713 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281148|GeneID:108281148 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr6 3349162 3352023 enhancer 0 + 3349162 3352023 0,128,128 enhancer VISTA enhancer hs1391 110121091|GeneID:110121091 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/9] | forebrain[7/9] VISTA enhancer hs1391 | enhancer in: midbrain (mesencephalon)[7/9] | forebrain[7/9] -chr6 4358347 4359696 enhancer 0 + 4358347 4359696 0,128,128 enhancer VISTA enhancer hs2060 110121246|GeneID:110121246 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[3/9] VISTA enhancer hs2060 | enhancer in: somite[3/9] -chr6 7163716 7165821 enhancer 0 + 7163716 7165821 0,128,128 enhancer VISTA enhancer hs2061 110121247|GeneID:110121247,6239|GeneID:6239 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: trigeminal V (ganglion, cranial)[3/7] VISTA enhancer hs2061 | enhancer in: trigeminal V (ganglion, cranial)[3/7] -chr6 7560926 7562502 enhancer 0 + 7560926 7562502 0,128,128 enhancer VISTA enhancer hs2191 110121274|GeneID:110121274,1832|GeneID:1832 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[5/5] VISTA enhancer hs2191 | enhancer in: other[5/5] -chr6 9095100 9096752 enhancer 0 + 9095100 9096752 0,128,128 enhancer VISTA enhancer hs1315 110121052|GeneID:110121052 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[11/11] | dorsal root ganglion[11/11] | forebrain[9/11] | limb[6/11] | trigeminal V (ganglion, cranial)[9/11] | cranial nerve[9/11] VISTA enhancer hs1315 | enhancer in: midbrain (mesencephalon)[11/11] | dorsal root ganglion[11/11] | forebrain[9/11] | limb[6/11] | trigeminal V (ganglion, cranial)[9/11] | cranial nerve[9/11] -chr6 15249109 15249951 enhancer 0 + 15249109 15249951 0,128,128 enhancer 106799837|GeneID:106799837,3720|GeneID:3720 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6 16327633 16327724 tandem 0 + 16327633 16327724 0,0,192 repeat_region 108663993|GeneID:108663993 repeat_region -chr6 16327635 16327722 repeat_instability_region 0 + 16327635 16327722 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 1 108663993|GeneID:108663993 8358429|PMID:8358429 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:8358429] repeat instability region; expansion of the (CAG)n trinucleotide repeat (CTG relative to the plus strand of the reference genome) is associated with spinocerebellar ataxia type 1 -chr6 18536396 18538036 enhancer 0 + 18536396 18538036 0,128,128 enhancer VISTA enhancer hs1052 110120976|GeneID:110120976,105374956|GeneID:105374956 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/13] | branchial arch[7/13] | cranial nerve[9/13] | other[8/13] VISTA enhancer hs1052 | enhancer in: forebrain[7/13] | branchial arch[7/13] | cranial nerve[9/13] | other[8/13] -chr6 19555936 19559947 meiotic 0 + 19555936 19559947 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107403164|GeneID:107403164 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6 19557300 19558600 meiotic 0 + 19557300 19558600 160,82,45 recombination_feature C1 hotspot sub-region, crossovers mapped in sperm cells of males of European ancestry 107403164|GeneID:107403164 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] C1 hotspot sub-region, crossovers mapped in sperm cells of males of European ancestry -chr6 19559030 19560930 meiotic 0 + 19559030 19560930 160,82,45 recombination_feature C2 hotspot sub-region, crossovers mapped in sperm cells of males of European ancestry 107403164|GeneID:107403164 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] C2 hotspot sub-region, crossovers mapped in sperm cells of males of European ancestry -chr6 19559222 19560612 meiotic 0 + 19559222 19560612 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107403164|GeneID:107403164 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr6 19560043 19560056 nucleotide_motif 0 + 19560043 19560056 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107403164|GeneID:107403164 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 19560503 19560516 nucleotide_motif 0 + 19560503 19560516 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107403164|GeneID:107403164 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 19718990 19722679 enhancer 0 + 19718990 19722679 0,128,128 enhancer VISTA enhancer hs1533 110121134|GeneID:110121134 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/7] | forebrain[6/7] | eye[5/7] VISTA enhancer hs1533 | enhancer in: midbrain (mesencephalon)[5/7] | forebrain[6/7] | eye[5/7] -chr6 19975925 19977282 enhancer 0 + 19975925 19977282 0,128,128 enhancer VISTA enhancer hs1175 110121016|GeneID:110121016 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/8] | nose[7/8] VISTA enhancer hs1175 | enhancer in: forebrain[4/8] | nose[7/8] -chr6 20866873 20870298 enhancer 0 + 20866873 20870298 0,128,128 enhancer VISTA enhancer hs1340 110121068|GeneID:110121068,54901|GeneID:54901 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[10/10] | hindbrain (rhombencephalon)[7/10] | midbrain (mesencephalon)[8/10] | forebrain[9/10] VISTA enhancer hs1340 | enhancer in: neural tube[10/10] | hindbrain (rhombencephalon)[7/10] | midbrain (mesencephalon)[8/10] | forebrain[9/10] -chr6 22148344 22151158 enhancer 0 + 22148344 22151158 0,128,128 enhancer VISTA enhancer hs1335 110121065|GeneID:110121065,401237|GeneID:401237 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[3/4] | midbrain (mesencephalon)[4/4] | forebrain[3/4] VISTA enhancer hs1335 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[3/4] | midbrain (mesencephalon)[4/4] | forebrain[3/4] -chr6 23179783 23181958 enhancer 0 + 23179783 23181958 0,128,128 enhancer VISTA enhancer hs1352 110121074|GeneID:110121074 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[7/7] | forebrain[3/7] VISTA enhancer hs1352 | enhancer in: neural tube[5/7] | hindbrain (rhombencephalon)[5/7] | midbrain (mesencephalon)[7/7] | forebrain[3/7] -chr6 26550349 26550884 enhancer 0 + 26550349 26550884 0,128,128 enhancer amplified fragment containing the chr6:26550694-26551000 (GRCh37) CAGE region 108281120|GeneID:108281120 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr6:26550694-26551000 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr6 26550465 26550772 CAGE_cluster 0 + 26550465 26550772 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281120|GeneID:108281120 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr6 29965074 29965370 enhancer 0 + 29965074 29965370 0,128,128 enhancer 106799842|GeneID:106799842 17135569|PMID:17135569 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6 31170619 31171001 promoter 0 + 31170619 31171001 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6 31170619 31173223 promoter 0 + 31170619 31173223 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6 31170620 31170750 conserved_region 0 + 31170620 31170750 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6 31170644 31170654 GC_signal 0 + 31170644 31170654 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6 31170705 31170733 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 31170705 31170733 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6 31170725 31170745 protein_bind: Sp1 transcription factor 0 + 31170725 31170745 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6 31170725 31170745 protein_bind: Sp3 transcription factor 0 + 31170725 31170745 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6 31170729 31170739 GC_signal 0 + 31170729 31170739 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6 31170893 31170904 protein_bind: AT-rich interaction domain 3B 0 + 31170893 31170904 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6 31171154 31171184 protein_bind: aryl hydrocarbon receptor 0 + 31171154 31171184 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6 31171932 31172131 enhancer 0 + 31171932 31172131 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6 31171935 31172131 conserved_region 0 + 31171935 31172131 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6 31171987 31172017 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 31171987 31172017 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6 31172048 31172078 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 31172048 31172078 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6 31172091 31172110 protein_bind: E74 like ETS transcription factor 3 0 + 31172091 31172110 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6 31172472 31172577 conserved_region 0 + 31172472 31172577 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6 31173046 31173178 conserved_region 0 + 31173046 31173178 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6 31815249 31815469 rep_origin: HS-AB fragment 0 + 31815249 31815469 0,0,0 origin_of_replication HS-AB fragment; allows replication of a plasmid 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:8065368] HS-AB fragment; allows replication of a plasmid -chr6 31815308 31815315 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 31815308 31815315 192,0,0 protein_binding_site HSP-MYC A 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC A | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6 31815378 31815907 rep_origin: C amplicon 0 + 31815378 31815907 0,0,0 origin_of_replication C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:fractionation evidence [ECO:0000100][PMID:8065368] C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA -chr6 31815383 31815390 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 31815383 31815390 192,0,0 protein_binding_site HSP-MYC B 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC B | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6 32005825 32006122 non_allelic_homologous 0 + 32005825 32006122 160,82,45 recombination_feature sub-region CH-4, recombines with sub-region CH-4' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 1905948|PMID:1905948,11134109|PMID:11134109,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11134109, PMID:1905948, PMID:22156666] sub-region CH-4, recombines with sub-region CH-4' within the CYP21A2 recombination region -chr6 32006291 32006299 non_allelic_homologous 0 + 32006291 32006299 160,82,45 recombination_feature sub-region CH-9, recombines with sub-region CH-9' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-9, recombines with sub-region CH-9' within the CYP21A2 recombination region -chr6 32006353 32006404 non_allelic_homologous 0 + 32006353 32006404 160,82,45 recombination_feature sub-region CH-6, recombines with sub-region CH-6' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 19624807|PMID:19624807,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19624807, PMID:22156666] sub-region CH-6, recombines with sub-region CH-6' within the CYP21A2 recombination region -chr6 32006404 32006689 non_allelic_homologous 0 + 32006404 32006689 160,82,45 recombination_feature sub-region CH-1, recombines with sub-region CH-1' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-1, recombines with sub-region CH-1' within the CYP21A2 recombination region -chr6 32006811 32007065 non_allelic_homologous 0 + 32006811 32007065 160,82,45 recombination_feature sub-region CH-2, recombines with sub-region CH-2' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-2, recombines with sub-region CH-2' within the CYP21A2 recombination region -chr6 32007079 32007446 non_allelic_homologous 0 + 32007079 32007446 160,82,45 recombination_feature sub-region CH-7, recombines with sub-region CH-7' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 20970527|PMID:20970527,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20970527, PMID:22156666] sub-region CH-7, recombines with sub-region CH-7' within the CYP21A2 recombination region -chr6 32007454 32007685 non_allelic_homologous 0 + 32007454 32007685 160,82,45 recombination_feature sub-region CH-5, recombines with sub-region CH-5' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-5, recombines with sub-region CH-5' within the CYP21A2 recombination region -chr6 32007591 32008652 meiotic 0 + 32007591 32008652 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 108004539|GeneID:108004539,1590|GeneID:1590 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6 32007686 32007799 non_allelic_homologous 0 + 32007686 32007799 160,82,45 recombination_feature sub-region CH-3, recombines with sub-region CH-3' within the CYP21A2 recombination region 108004539|GeneID:108004539,1590|GeneID:1590 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-3, recombines with sub-region CH-3' within the CYP21A2 recombination region -chr6 32007800 32007801 non_allelic_homologous 0 + 32007800 32007801 160,82,45 recombination_feature sub-region CH-8', recombines with sub-region CH-8 within the CYP21A1P recombination region. This sub-region is marked as 3' partial since the 3' end of the sub-region is unknown 108004539|GeneID:108004539,1590|GeneID:1590 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-8', recombines with sub-region CH-8 within the CYP21A1P recombination region. This sub-region is marked as 3' partial since the 3' end of the sub-region is unknown -chr6 32008872 32009122 non_allelic_homologous 0 + 32008872 32009122 160,82,45 recombination_feature sub-region TNXA/TNXB-1, recombines with sub-region TNXA/TNXB-1' within the tenascin XB recombination region 106780804|GeneID:106780804 15081125|PMID:15081125 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:15081125] sub-region TNXA/TNXB-1, recombines with sub-region TNXA/TNXB-1' within the tenascin XB recombination region -chr6 32010305 32011824 meiotic 0 + 32010305 32011824 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A and PRDM9 A/C genotypes 106780804|GeneID:106780804 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A and PRDM9 A/C genotypes -chr6 32011046 32012996 non_allelic_homologous 0 + 32011046 32012996 160,82,45 recombination_feature sub-region TNXA/TNXB-2, recombines with sub-region TNXA/TNXB-2' within the tenascin XB recombination region 106780804|GeneID:106780804 10207042|PMID:10207042 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10207042] sub-region TNXA/TNXB-2, recombines with sub-region TNXA/TNXB-2' within the tenascin XB recombination region -chr6 32011252 32011265 nucleotide_motif 0 + 32011252 32011265 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780804|GeneID:106780804 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32011304 32011320 nucleotide_motif 0 + 32011304 32011320 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780804|GeneID:106780804 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 32011336 32011349 nucleotide_motif 0 + 32011336 32011349 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780804|GeneID:106780804 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32012995 32013268 non_allelic_homologous 0 + 32012995 32013268 160,82,45 recombination_feature sub-region TNXA/TNXB-3, recombines with sub-region TNXA/TNXB-3' within the tenascin XB recombination region 106780804|GeneID:106780804 12354783|PMID:12354783 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12354783] sub-region TNXA/TNXB-3, recombines with sub-region TNXA/TNXB-3' within the tenascin XB recombination region -chr6 32037871 32039674 meiotic 0 + 32037871 32039674 160,82,45 recombination_feature this region was identified as a region with an increased recombination rate within the HapMap CEU population 106780800|GeneID:106780800 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a region with an increased recombination rate within the HapMap CEU population -chr6 32038559 32038856 non_allelic_homologous 0 + 32038559 32038856 160,82,45 recombination_feature sub-region CH-4', recombines with sub-region CH-4 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 1905948|PMID:1905948,11134109|PMID:11134109,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11134109, PMID:1905948, PMID:22156666] sub-region CH-4', recombines with sub-region CH-4 within the CYP21A1P recombination region -chr6 32039019 32039027 non_allelic_homologous 0 + 32039019 32039027 160,82,45 recombination_feature sub-region CH-9', recombines with sub-region CH-9 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-9', recombines with sub-region CH-9 within the CYP21A1P recombination region -chr6 32039081 32039132 non_allelic_homologous 0 + 32039081 32039132 160,82,45 recombination_feature sub-region CH-6', recombines with sub-region CH-6 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 19624807|PMID:19624807,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19624807, PMID:22156666] sub-region CH-6', recombines with sub-region CH-6 within the CYP21A1P recombination region -chr6 32039132 32039425 non_allelic_homologous 0 + 32039132 32039425 160,82,45 recombination_feature sub-region CH-1', recombines with sub-region CH-1 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-1', recombines with sub-region CH-1 within the CYP21A1P recombination region -chr6 32039303 32039316 nucleotide_motif 0 + 32039303 32039316 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780800|GeneID:106780800,1589|GeneID:1589 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32039490 32039506 nucleotide_motif 0 + 32039490 32039506 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780800|GeneID:106780800,1589|GeneID:1589 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 32039547 32039801 non_allelic_homologous 0 + 32039547 32039801 160,82,45 recombination_feature sub-region CH-2', recombines with sub-region CH-2 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-2', recombines with sub-region CH-2 within the CYP21A1P recombination region -chr6 32039815 32040182 non_allelic_homologous 0 + 32039815 32040182 160,82,45 recombination_feature sub-region CH-7', recombines with sub-region CH-7 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 20970527|PMID:20970527,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20970527, PMID:22156666] sub-region CH-7', recombines with sub-region CH-7 within the CYP21A1P recombination region -chr6 32040190 32040420 non_allelic_homologous 0 + 32040190 32040420 160,82,45 recombination_feature sub-region CH-5', recombines with sub-region CH-5 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-5', recombines with sub-region CH-5 within the CYP21A1P recombination region -chr6 32040241 32041144 meiotic 0 + 32040241 32041144 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype 106780800|GeneID:106780800,1589|GeneID:1589 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype -chr6 32040421 32040534 non_allelic_homologous 0 + 32040421 32040534 160,82,45 recombination_feature sub-region CH-3', recombines with sub-region CH-3 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-3', recombines with sub-region CH-3 within the CYP21A1P recombination region -chr6 32040535 32040536 non_allelic_homologous 0 + 32040535 32040536 160,82,45 recombination_feature sub-region CH-8', recombines with sub-region CH-8 within the CYP21A1P recombination region. This sub-region is marked as 3' partial since the 3' end of the sub-region is unknown 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-8', recombines with sub-region CH-8 within the CYP21A1P recombination region. This sub-region is marked as 3' partial since the 3' end of the sub-region is unknown -chr6 32040657 32040673 nucleotide_motif 0 + 32040657 32040673 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780800|GeneID:106780800,1589|GeneID:1589 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 32041607 32041857 non_allelic_homologous 0 + 32041607 32041857 160,82,45 recombination_feature sub-region TNXA/TNXB-1', recombines with sub-region TNXA/TNXB-1 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 15081125|PMID:15081125 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:15081125] sub-region TNXA/TNXB-1', recombines with sub-region TNXA/TNXB-1 within the tenascin XA (pseudogene) recombination region -chr6 32043090 32044631 meiotic 0 + 32043090 32044631 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes 106780803|GeneID:106780803 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes -chr6 32043900 32045850 non_allelic_homologous 0 + 32043900 32045850 160,82,45 recombination_feature sub-region TNXA/TNXB-2', recombines with sub-region TNXA/TNXB-2 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 10207042|PMID:10207042 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10207042] sub-region TNXA/TNXB-2', recombines with sub-region TNXA/TNXB-2 within the tenascin XA (pseudogene) recombination region -chr6 32044106 32044119 nucleotide_motif 0 + 32044106 32044119 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32044158 32044174 nucleotide_motif 0 + 32044158 32044174 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 32044190 32044203 nucleotide_motif 0 + 32044190 32044203 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32045849 32046122 non_allelic_homologous 0 + 32045849 32046122 160,82,45 recombination_feature sub-region TNXA/TNXB-3', recombines with sub-region TNXA/TNXB-3 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 12354783|PMID:12354783 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12354783] sub-region TNXA/TNXB-3', recombines with sub-region TNXA/TNXB-3 within the tenascin XA (pseudogene) recombination region -chr6 32835538 32837158 meiotic 0 + 32835538 32837158 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6 32836098 32837694 meiotic 0 + 32836098 32837694 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6 32836522 32837522 meiotic 0 + 32836522 32837522 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6 32836929 32836945 nucleotide_motif 0 + 32836929 32836945 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32931738 32933079 meiotic 0 + 32931738 32933079 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6 32931872 32933172 meiotic 0 + 32931872 32933172 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6 32932093 32932106 nucleotide_motif 0 + 32932093 32932106 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32933081 32933097 nucleotide_motif 0 + 32933081 32933097 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 32935422 32936222 meiotic 0 + 32935422 32936222 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6 32995238 32998166 meiotic 0 + 32995238 32998166 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6 32995501 32998166 meiotic 0 + 32995501 32998166 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6 32996418 32998860 meiotic 0 + 32996418 32998860 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes 107648866|GeneID:107648866 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes -chr6 32997122 32998322 meiotic 0 + 32997122 32998322 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648866|GeneID:107648866 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6 32997664 32997677 nucleotide_motif 0 + 32997664 32997677 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 32998526 32998542 nucleotide_motif 0 + 32998526 32998542 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 33002672 33005823 meiotic 0 + 33002672 33005823 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6 33003464 33003485 nucleotide_motif 0 + 33003464 33003485 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 33003663 33003676 nucleotide_motif 0 + 33003663 33003676 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 33003930 33005505 meiotic 0 + 33003930 33005505 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6 33005072 33006372 meiotic 0 + 33005072 33006372 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6 33005089 33005105 nucleotide_motif 0 + 33005089 33005105 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 33008772 33010672 meiotic 0 + 33008772 33010672 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6 33010074 33011244 meiotic 0 + 33010074 33011244 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6 33010400 33011244 meiotic 0 + 33010400 33011244 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6 33010887 33010900 nucleotide_motif 0 + 33010887 33010900 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6 35489351 35492826 enhancer 0 + 35489351 35492826 0,128,128 enhancer VISTA enhancer hs1887 110121220|GeneID:110121220 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/5] VISTA enhancer hs1887 | enhancer in: heart[4/5] -chr6 36441320 36441868 enhancer 0 + 36441320 36441868 0,128,128 enhancer amplified fragment containing the chr6:36409257-36409482 (GRCh37) CAGE region 108281124|GeneID:108281124 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr6:36409257-36409482 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa and HepG2 cells -chr6 36441479 36441705 CAGE_cluster 0 + 36441479 36441705 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281124|GeneID:108281124 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr6 38390913 38392308 enhancer 0 + 38390913 38392308 0,128,128 enhancer VISTA enhancer hs1366 110121080|GeneID:110121080 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/7] VISTA enhancer hs1366 | enhancer in: midbrain (mesencephalon)[6/7] -chr6 41555485 41555939 enhancer 0 + 41555485 41555939 0,128,128 enhancer VISTA enhancer hs281 110120645|GeneID:110120645,116113|GeneID:116113 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/11] | forebrain[7/11] VISTA enhancer hs281 | enhancer in: midbrain (mesencephalon)[4/11] | forebrain[7/11] -chr6 41592978 41594337 enhancer 0 + 41592978 41594337 0,128,128 enhancer VISTA enhancer hs1100 110120988|GeneID:110120988,116113|GeneID:116113 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[8/8] | forebrain[7/8] | other[6/8] VISTA enhancer hs1100 | enhancer in: hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[8/8] | forebrain[7/8] | other[6/8] -chr6 45327047 45327054 transcriptional_cis_regulatory_region 0 + 45327047 45327054 0,128,128 region FRE (FOXO response element); -1269 to -1263 109611593|GeneID:109611593 21713995|PMID:21713995 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21713995] mediates induction of transcription by Sirt1/Foxo3a FRE (FOXO response element); -1269 to -1263 | mediates induction of transcription by Sirt1/Foxo3a -chr6 45327126 45327150 protein_bind: transcriptional repressor GATA binding 1 0 + 45327126 45327150 192,0,0 protein_binding_site GATA site 109611593|GeneID:109611593 16140555|PMID:16140555 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16140555] negative regulation of promoter activity GATA site | negative regulation of promoter activity | transcriptional repressor GATA binding 1 -chr6 45328011 45328652 promoter 0 + 45328011 45328652 0,128,128 promoter p306 fragment 109611593|GeneID:109611593 11604227|PMID:11604227 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11604227] p306 fragment -chr6 45328058 45328099 enhancer 0 + 45328058 45328099 0,128,128 enhancer CE1 109611593|GeneID:109611593 12186862|PMID:12186862 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12186862] CE1 -chr6 45328211 45328268 protein_bind: thyroid hormone receptor beta 0 + 45328211 45328268 192,0,0 protein_binding_site TRE-site A 109611593|GeneID:109611593,860|GeneID:860 27253998|PMID:27253998 EXISTENCE:protein binding evidence [ECO:0000024][PMID:27253998] TRE-site A | thyroid hormone receptor beta -chr6 45328231 45328254 protein_bind: runt related transcription factor 2 0 + 45328231 45328254 192,0,0 protein_binding_site OSE2 109611593|GeneID:109611593,860|GeneID:860 12890574|PMID:12890574 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12890574] OSE2 | runt related transcription factor 2 -chr6 45328336 45328382 protein_bind: thyroid hormone receptor beta 0 + 45328336 45328382 192,0,0 protein_binding_site TRE-site B 109611593|GeneID:109611593,860|GeneID:860 27253998|PMID:27253998 EXISTENCE:protein binding evidence [ECO:0000024][PMID:27253998] TRE-site B | thyroid hormone receptor beta -chr6 45328403 45328449 protein_bind: thyroid hormone receptor beta 0 + 45328403 45328449 192,0,0 protein_binding_site TRE-site C 109611593|GeneID:109611593,860|GeneID:860 27253998|PMID:27253998 EXISTENCE:protein binding evidence [ECO:0000024][PMID:27253998] TRE-site C | thyroid hormone receptor beta -chr6 45422678 45422747 repeat_instability_region 0 + 45422678 45422747 192,0,192 sequence_feature repeat instability region; changes in the polyglutamine-coding tract can disrupt the gene product, resulting in cleidocranial dysplasia 109611589|GeneID:109611589,860|GeneID:860 9182765|PMID:9182765 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9182765] repeat instability region; changes in the polyglutamine-coding tract can disrupt the gene product, resulting in cleidocranial dysplasia -chr6 45422681 45422747 tandem 0 + 45422681 45422747 0,0,192 repeat_region imperfect repeat 109611589|GeneID:109611589,860|GeneID:860 imperfect repeat -chr6 45422749 45422794 tandem 0 + 45422749 45422794 0,0,192 repeat_region imperfect repeat 109611589|GeneID:109611589,860|GeneID:860 imperfect repeat -chr6 45422750 45422801 repeat_instability_region 0 + 45422750 45422801 192,0,192 sequence_feature repeat instability region; expansion of the polyalanine-coding tract are a cause of cleidocranial dysplasia 109611589|GeneID:109611589,860|GeneID:860 9182765|PMID:9182765 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9182765] repeat instability region; expansion of the polyalanine-coding tract are a cause of cleidocranial dysplasia -chr6 45879563 45882817 enhancer 0 + 45879563 45882817 0,128,128 enhancer VISTA enhancer hs1461 110121112|GeneID:110121112 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[12/16] | nose[7/16] VISTA enhancer hs1461 | enhancer in: limb[12/16] | nose[7/16] -chr6 50717530 50718524 enhancer 0 + 50717530 50718524 0,128,128 enhancer VISTA enhancer hs865 110120792|GeneID:110120792,83741|GeneID:83741 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/6] | midbrain (mesencephalon)[6/6] VISTA enhancer hs865 | enhancer in: hindbrain (rhombencephalon)[3/6] | midbrain (mesencephalon)[6/6] -chr6 51283869 51284912 enhancer 0 + 51283869 51284912 0,128,128 enhancer VISTA enhancer hs217 110120617|GeneID:110120617 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[14/20] | midbrain (mesencephalon)[11/20] VISTA enhancer hs217 | enhancer in: hindbrain (rhombencephalon)[14/20] | midbrain (mesencephalon)[11/20] -chr6 52388929 52391414 enhancer 0 + 52388929 52391414 0,128,128 enhancer VISTA enhancer hs2064 110121250|GeneID:110121250,85315|GeneID:85315 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/8] | midbrain (mesencephalon)[5/8] VISTA enhancer hs2064 | enhancer in: hindbrain (rhombencephalon)[5/8] | midbrain (mesencephalon)[5/8] -chr6 71361845 71362335 rep_origin: reported as EcoRI/HincII fragment 0 + 71361845 71362335 0,0,0 origin_of_replication reported as EcoRI/HincII fragment; promotes replication of a plasmid 107228316|GeneID:107228316 7690594|PMID:7690594,10653986|PMID:10653986 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:7690594, PMID:10653986] reported as EcoRI/HincII fragment; promotes replication of a plasmid -chr6 71361919 71362332 rep_origin: site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA 0 + 71361919 71362332 0,0,0 origin_of_replication site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA 107228316|GeneID:107228316 9356241|PMID:9356241 EXISTENCE:fractionation evidence [ECO:0000100][PMID:9356241] site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA -chr6 84051773 84053626 enhancer 0 + 84051773 84053626 0,128,128 enhancer VISTA enhancer hs2063 110121249|GeneID:110121249,112609|GeneID:112609 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[3/7] | somite[6/7] VISTA enhancer hs2063 | enhancer in: hindbrain (rhombencephalon)[3/7] | somite[6/7] -chr6 87925245 87926335 enhancer 0 + 87925245 87926335 0,128,128 enhancer amplified fragment containing the chr6:88634965-88636053 (GRCh37) CAGE-defined region 108348029|GeneID:108348029 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr6:88634965-88636053 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr6 97096734 97097883 enhancer 0 + 97096734 97097883 0,128,128 enhancer VISTA enhancer hs676 110120741|GeneID:110120741,114792|GeneID:114792 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/11] | forebrain[8/11] | branchial arch[5/11] | ear[6/11] VISTA enhancer hs676 | enhancer in: hindbrain (rhombencephalon)[8/11] | forebrain[8/11] | branchial arch[5/11] | ear[6/11] -chr6 97306166 97307637 enhancer 0 + 97306166 97307637 0,128,128 enhancer VISTA enhancer hs978 110120818|GeneID:110120818,101927314|GeneID:101927314 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/4] VISTA enhancer hs978 | enhancer in: forebrain[3/4] -chr6 97464948 97468106 enhancer 0 + 97464948 97468106 0,128,128 enhancer VISTA enhancer hs1564 110121145|GeneID:110121145,101927314|GeneID:101927314 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] | other[3/7] VISTA enhancer hs1564 | enhancer in: forebrain[6/7] | other[3/7] -chr6 97626214 97627846 enhancer 0 + 97626214 97627846 0,128,128 enhancer VISTA enhancer hs1035 110120970|GeneID:110120970,101927314|GeneID:101927314 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/8] | limb[3/8] VISTA enhancer hs1035 | enhancer in: forebrain[8/8] | limb[3/8] -chr6 97668208 97669067 enhancer 0 + 97668208 97669067 0,128,128 enhancer VISTA enhancer hs282 110120646|GeneID:110120646,101927314|GeneID:101927314 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[6/8] VISTA enhancer hs282 | enhancer in: hindbrain (rhombencephalon)[6/8] | midbrain (mesencephalon)[6/8] -chr6 97764452 97766825 enhancer 0 + 97764452 97766825 0,128,128 enhancer VISTA enhancer hs1220 110121032|GeneID:110121032 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[4/5] VISTA enhancer hs1220 | enhancer in: branchial arch[4/5] -chr6 98014075 98015433 enhancer 0 + 98014075 98015433 0,128,128 enhancer VISTA enhancer hs567 110120705|GeneID:110120705 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/10] VISTA enhancer hs567 | enhancer in: midbrain (mesencephalon)[8/10] -chr6 98043952 98045362 enhancer 0 + 98043952 98045362 0,128,128 enhancer VISTA enhancer hs563 110120704|GeneID:110120704 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/11] VISTA enhancer hs563 | enhancer in: hindbrain (rhombencephalon)[9/11] -chr6 98056157 98058182 enhancer 0 + 98056157 98058182 0,128,128 enhancer VISTA enhancer hs1233 110121036|GeneID:110121036 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/4] | other[4/4] VISTA enhancer hs1233 | enhancer in: neural tube[3/4] | other[4/4] -chr6 98271882 98272634 enhancer 0 + 98271882 98272634 0,128,128 enhancer VISTA enhancer hs284 110120647|GeneID:110120647 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/7] VISTA enhancer hs284 | enhancer in: neural tube[6/7] -chr6 98381983 98383173 enhancer 0 + 98381983 98383173 0,128,128 enhancer VISTA enhancer hs1128 110120999|GeneID:110120999 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] VISTA enhancer hs1128 | enhancer in: forebrain[4/6] -chr6 98454157 98456640 enhancer 0 + 98454157 98456640 0,128,128 enhancer VISTA enhancer hs1081 110120984|GeneID:110120984 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/9] VISTA enhancer hs1081 | enhancer in: hindbrain (rhombencephalon)[6/9] -chr6 98641484 98643167 enhancer 0 + 98641484 98643167 0,128,128 enhancer VISTA enhancer hs1085 110120985|GeneID:110120985 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/9] | midbrain (mesencephalon)[5/9] | forebrain[7/9] VISTA enhancer hs1085 | enhancer in: neural tube[7/9] | midbrain (mesencephalon)[5/9] | forebrain[7/9] -chr6 98827184 98828350 enhancer 0 + 98827184 98828350 0,128,128 enhancer amplified fragment containing the chr6:99275060-99276226 (GRCh37) conserved CAGE region with expression in brain 108348018|GeneID:108348018 24670763|PMID:24670763 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:24670763] drives transgene expression in the floor plate amplified fragment containing the chr6:99275060-99276226 (GRCh37) conserved CAGE region with expression in brain | drives transgene expression in the floor plate -chr6 100210035 100211515 enhancer 0 + 100210035 100211515 0,128,128 enhancer VISTA enhancer hs576 110120709|GeneID:110120709 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[9/9] | cranial nerve[6/9] VISTA enhancer hs576 | enhancer in: midbrain (mesencephalon)[9/9] | cranial nerve[6/9] -chr6 100456251 100457191 enhancer 0 - 100456251 100457191 0,128,128 enhancer VISTA enhancer hs2319 110121301|GeneID:110121301,6492|GeneID:6492 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] | midbrain (mesencephalon)[4/7] | forebrain[4/7] | eye[3/7] VISTA enhancer hs2319 | enhancer in: neural tube[4/7] | midbrain (mesencephalon)[4/7] | forebrain[4/7] | eye[3/7] -chr6 101295647 101297358 enhancer 0 + 101295647 101297358 0,128,128 enhancer VISTA enhancer hs1738 110121195|GeneID:110121195 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[7/7] VISTA enhancer hs1738 | enhancer in: limb[7/7] -chr6 104597105 104598826 enhancer 0 + 104597105 104598826 0,128,128 enhancer VISTA enhancer hs1452 110121109|GeneID:110121109 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[12/13] VISTA enhancer hs1452 | enhancer in: limb[12/13] -chr6 111550484 111555465 enhancer 0 + 111550484 111555465 0,128,128 enhancer VISTA enhancer hs1690 110121188|GeneID:110121188,643749|GeneID:643749 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] | somite[5/7] | forebrain[4/7] | branchial arch[5/7] | heart[4/7] | facial mesenchyme[5/7] | other[5/7] VISTA enhancer hs1690 | enhancer in: neural tube[5/7] | somite[5/7] | forebrain[4/7] | branchial arch[5/7] | heart[4/7] | facial mesenchyme[5/7] | other[5/7] -chr6 112501110 112505123 enhancer 0 + 112501110 112505123 0,128,128 enhancer VISTA enhancer hs1302 110121046|GeneID:110121046 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[4/4] | forebrain[4/4] VISTA enhancer hs1302 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[4/4] | forebrain[4/4] -chr6 118536041 118538613 enhancer 0 + 118536041 118538613 0,128,128 enhancer VISTA enhancer hs2188 110121273|GeneID:110121273 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[12/12] VISTA enhancer hs2188 | enhancer in: heart[12/12] -chr6 125946197 125946692 enhancer 0 + 125946197 125946692 0,128,128 enhancer amplified fragment containing the chr6:126267356-126267782 (GRCh37) CAGE region 108228196|GeneID:108228196 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr6:126267356-126267782 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr6 125946209 125946636 CAGE_cluster 0 + 125946209 125946636 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108228196|GeneID:108228196 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr6 134358159 134358675 enhancer 0 + 134358159 134358675 0,128,128 enhancer amplified fragment containing the chr6:134679459-134679725 (GRCh37) CAGE region 108281144|GeneID:108281144 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr6:134679459-134679725 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr6 134358320 134358587 CAGE_cluster 0 + 134358320 134358587 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281144|GeneID:108281144 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr6 135280559 135282914 enhancer 0 + 135280559 135282914 0,128,128 enhancer VISTA enhancer hs1351 110121073|GeneID:110121073 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[9/9] VISTA enhancer hs1351 | enhancer in: eye[9/9] -chr6 137614248 137615468 enhancer 0 + 137614248 137615468 0,128,128 enhancer chr6 POU3F2 HCT in OLIG3-TNFAIP3 intergenic region 108169207|GeneID:108169207 20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20363979] HCT enhancer chr6 POU3F2 HCT in OLIG3-TNFAIP3 intergenic region | HCT enhancer -chr6 137614500 137614716 conserved_region 0 + 137614500 137614716 192,0,192 sequence_feature conserved region; HCT with multiple POU3F2 binding motifs 108169207|GeneID:108169207 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple POU3F2 binding motifs -chr6 139886839 139890632 enhancer 0 + 139886839 139890632 0,128,128 enhancer VISTA enhancer hs1644 110121174|GeneID:110121174 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[9/9] | forebrain[9/9] | eye[7/9] VISTA enhancer hs1644 | enhancer in: hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[9/9] | forebrain[9/9] | eye[7/9] -chr6 148596749 148603438 meiotic 0 + 148596749 148603438 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107403234|GeneID:107403234 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6 148596803 148600688 meiotic 0 + 148596803 148600688 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107403234|GeneID:107403234 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6 148597865 148600843 meiotic 0 + 148597865 148600843 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107403234|GeneID:107403234 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr6 148598393 148599693 meiotic 0 + 148598393 148599693 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107403234|GeneID:107403234 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] crossovers mapped in sperm cells of males of European ancestry -chr6 148599042 148599055 nucleotide_motif 0 + 148599042 148599055 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107403234|GeneID:107403234 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 148600355 148600368 nucleotide_motif 0 + 148600355 148600368 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107403234|GeneID:107403234 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6 148603259 148603481 meiotic 0 + 148603259 148603481 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107403234|GeneID:107403234 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6 150175546 150178465 enhancer 0 + 150175546 150178465 0,128,128 enhancer VISTA enhancer hs1922 110121225|GeneID:110121225,81706|GeneID:81706 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[11/13] VISTA enhancer hs1922 | enhancer in: heart[11/13] -chr6 150622677 150623707 enhancer 0 + 150622677 150623707 0,128,128 enhancer amplified fragment containing the chr6:150943814-150944844 (GRCh37) CAGE-defined region 108348020|GeneID:108348020,57480|GeneID:57480 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr6:150943814-150944844 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr6 162855797 162858898 enhancer 0 + 162855797 162858898 0,128,128 enhancer VISTA enhancer hs1358 110121075|GeneID:110121075,135138|GeneID:135138 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[9/9] VISTA enhancer hs1358 | enhancer in: forebrain[9/9] -chr6 163961309 163965357 enhancer 0 + 163961309 163965357 0,128,128 enhancer VISTA enhancer hs1955 110121231|GeneID:110121231,105378102|GeneID:105378102 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/8] VISTA enhancer hs1955 | enhancer in: heart[5/8] -chr6 166006447 166006980 enhancer 0 + 166006447 166006980 0,128,128 enhancer amplified fragment containing the chr6:166420168-166420416 (GRCh37) CAGE region 108254680|GeneID:108254680 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr6:166420168-166420416 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr6 166006679 166006928 CAGE_cluster 0 + 166006679 166006928 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254680|GeneID:108254680 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr6 170438006 170439776 enhancer 0 + 170438006 170439776 0,128,128 enhancer VISTA enhancer hs1310 110121051|GeneID:110121051 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/6] | hindbrain (rhombencephalon)[5/6] | somite[3/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] VISTA enhancer hs1310 | enhancer in: neural tube[4/6] | hindbrain (rhombencephalon)[5/6] | somite[3/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] -chr6 170561906 170562017 tandem 0 + 170561906 170562017 0,0,192 repeat_region 108663996|GeneID:108663996,6908|GeneID:6908 repeat_region -chr6 170561907 170562021 repeat_instability_region 0 + 170561907 170562021 192,0,192 sequence_feature repeat instability region; expansion of the (CAG/CAA)n trinucleotide repeat is associated with spinocerebellar ataxia type 17 108663996|GeneID:108663996,6908|GeneID:6908 10484774|PMID:10484774,11448935|PMID:11448935 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:10484774, PMID:11448935] repeat instability region; expansion of the (CAG/CAA)n trinucleotide repeat is associated with spinocerebellar ataxia type 17 -chr6_GL000250v2_alt 1156199 1156601 enhancer 0 + 1156199 1156601 0,128,128 enhancer 106783509|GeneID:106783509 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000250v2_alt 1222788 1223084 enhancer 0 + 1222788 1223084 0,128,128 enhancer 106799842|GeneID:106799842 17135569|PMID:17135569 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000250v2_alt 3147871 3148091 rep_origin: HS-AB fragment 0 + 3147871 3148091 0,0,0 origin_of_replication HS-AB fragment; allows replication of a plasmid 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:8065368] HS-AB fragment; allows replication of a plasmid -chr6_GL000250v2_alt 3147930 3147937 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3147930 3147937 192,0,0 protein_binding_site HSP-MYC A 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC A | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000250v2_alt 3148000 3148529 rep_origin: C amplicon 0 + 3148000 3148529 0,0,0 origin_of_replication C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:fractionation evidence [ECO:0000100][PMID:8065368] C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA -chr6_GL000250v2_alt 3148005 3148012 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3148005 3148012 192,0,0 protein_binding_site HSP-MYC B 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC B | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000250v2_alt 4140404 4142024 meiotic 0 + 4140404 4142024 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000250v2_alt 4140964 4142560 meiotic 0 + 4140964 4142560 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000250v2_alt 4141388 4142388 meiotic 0 + 4141388 4142388 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000250v2_alt 4141795 4141811 nucleotide_motif 0 + 4141795 4141811 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000250v2_alt 4236579 4237924 meiotic 0 + 4236579 4237924 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000250v2_alt 4236713 4238017 meiotic 0 + 4236713 4238017 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000250v2_alt 4236934 4236947 nucleotide_motif 0 + 4236934 4236947 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000250v2_alt 4237926 4237942 nucleotide_motif 0 + 4237926 4237942 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000250v2_alt 4240267 4241067 meiotic 0 + 4240267 4241067 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 1377873 1378275 enhancer 0 + 1377873 1378275 0,128,128 enhancer 106783509|GeneID:106783509 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000251v2_alt 1444463 1444759 enhancer 0 + 1444463 1444759 0,128,128 enhancer 106799842|GeneID:106799842 17135569|PMID:17135569 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000251v2_alt 2653061 2653443 promoter 0 + 2653061 2653443 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6_GL000251v2_alt 2653061 2655664 promoter 0 + 2653061 2655664 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6_GL000251v2_alt 2653062 2653192 conserved_region 0 + 2653062 2653192 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6_GL000251v2_alt 2653086 2653096 GC_signal 0 + 2653086 2653096 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6_GL000251v2_alt 2653147 2653175 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2653147 2653175 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6_GL000251v2_alt 2653167 2653187 protein_bind: Sp1 transcription factor 0 + 2653167 2653187 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6_GL000251v2_alt 2653167 2653187 protein_bind: Sp3 transcription factor 0 + 2653167 2653187 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6_GL000251v2_alt 2653171 2653181 GC_signal 0 + 2653171 2653181 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6_GL000251v2_alt 2653335 2653346 protein_bind: AT-rich interaction domain 3B 0 + 2653335 2653346 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6_GL000251v2_alt 2653596 2653626 protein_bind: aryl hydrocarbon receptor 0 + 2653596 2653626 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6_GL000251v2_alt 2654373 2654572 enhancer 0 + 2654373 2654572 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6_GL000251v2_alt 2654376 2654572 conserved_region 0 + 2654376 2654572 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6_GL000251v2_alt 2654428 2654458 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2654428 2654458 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000251v2_alt 2654489 2654519 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2654489 2654519 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000251v2_alt 2654532 2654551 protein_bind: E74 like ETS transcription factor 3 0 + 2654532 2654551 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6_GL000251v2_alt 2654913 2655018 conserved_region 0 + 2654913 2655018 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6_GL000251v2_alt 2655487 2655619 conserved_region 0 + 2655487 2655619 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6_GL000251v2_alt 3292500 3292720 rep_origin: HS-AB fragment 0 + 3292500 3292720 0,0,0 origin_of_replication HS-AB fragment; allows replication of a plasmid 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:8065368] HS-AB fragment; allows replication of a plasmid -chr6_GL000251v2_alt 3292559 3292566 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3292559 3292566 192,0,0 protein_binding_site HSP-MYC A 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC A | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000251v2_alt 3292629 3293158 rep_origin: C amplicon 0 + 3292629 3293158 0,0,0 origin_of_replication C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:fractionation evidence [ECO:0000100][PMID:8065368] C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA -chr6_GL000251v2_alt 3292634 3292641 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3292634 3292641 192,0,0 protein_binding_site HSP-MYC B 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC B | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000251v2_alt 3479929 3480179 non_allelic_homologous 0 + 3479929 3480179 160,82,45 recombination_feature sub-region TNXA/TNXB-1', recombines with sub-region TNXA/TNXB-1 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 15081125|PMID:15081125 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:15081125] sub-region TNXA/TNXB-1', recombines with sub-region TNXA/TNXB-1 within the tenascin XA (pseudogene) recombination region -chr6_GL000251v2_alt 3481412 3482953 meiotic 0 + 3481412 3482953 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes 106780803|GeneID:106780803 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes -chr6_GL000251v2_alt 3482222 3484172 non_allelic_homologous 0 + 3482222 3484172 160,82,45 recombination_feature sub-region TNXA/TNXB-2', recombines with sub-region TNXA/TNXB-2 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 10207042|PMID:10207042 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10207042] sub-region TNXA/TNXB-2', recombines with sub-region TNXA/TNXB-2 within the tenascin XA (pseudogene) recombination region -chr6_GL000251v2_alt 3482428 3482441 nucleotide_motif 0 + 3482428 3482441 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000251v2_alt 3482480 3482496 nucleotide_motif 0 + 3482480 3482496 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000251v2_alt 3482512 3482525 nucleotide_motif 0 + 3482512 3482525 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000251v2_alt 3484171 3484444 non_allelic_homologous 0 + 3484171 3484444 160,82,45 recombination_feature sub-region TNXA/TNXB-3', recombines with sub-region TNXA/TNXB-3 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 12354783|PMID:12354783 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12354783] sub-region TNXA/TNXB-3', recombines with sub-region TNXA/TNXB-3 within the tenascin XA (pseudogene) recombination region -chr6_GL000251v2_alt 4247738 4249357 meiotic 0 + 4247738 4249357 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000251v2_alt 4248297 4249893 meiotic 0 + 4248297 4249893 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000251v2_alt 4248721 4249721 meiotic 0 + 4248721 4249721 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 4249128 4249144 nucleotide_motif 0 + 4249128 4249144 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000251v2_alt 4343933 4345275 meiotic 0 + 4343933 4345275 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000251v2_alt 4344067 4345367 meiotic 0 + 4344067 4345367 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 4344287 4344300 nucleotide_motif 0 + 4344287 4344300 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000251v2_alt 4345277 4345293 nucleotide_motif 0 + 4345277 4345293 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000251v2_alt 4347617 4348417 meiotic 0 + 4347617 4348417 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 4407434 4410362 meiotic 0 + 4407434 4410362 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000251v2_alt 4407697 4410362 meiotic 0 + 4407697 4410362 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000251v2_alt 4408613 4411056 meiotic 0 + 4408613 4411056 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes 107648866|GeneID:107648866 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes -chr6_GL000251v2_alt 4409318 4410518 meiotic 0 + 4409318 4410518 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648866|GeneID:107648866 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 4409860 4409873 nucleotide_motif 0 + 4409860 4409873 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000251v2_alt 4410722 4410738 nucleotide_motif 0 + 4410722 4410738 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000251v2_alt 4414840 4417991 meiotic 0 + 4414840 4417991 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000251v2_alt 4415632 4415653 nucleotide_motif 0 + 4415632 4415653 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000251v2_alt 4415831 4415844 nucleotide_motif 0 + 4415831 4415844 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000251v2_alt 4416098 4417673 meiotic 0 + 4416098 4417673 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000251v2_alt 4417240 4418540 meiotic 0 + 4417240 4418540 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 4417257 4417273 nucleotide_motif 0 + 4417257 4417273 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000251v2_alt 4420940 4422840 meiotic 0 + 4420940 4422840 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000251v2_alt 4422242 4423412 meiotic 0 + 4422242 4423412 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6_GL000251v2_alt 4422568 4423412 meiotic 0 + 4422568 4423412 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6_GL000251v2_alt 4423055 4423068 nucleotide_motif 0 + 4423055 4423068 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000252v2_alt 1153678 1154080 enhancer 0 + 1153678 1154080 0,128,128 enhancer 106783509|GeneID:106783509 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000252v2_alt 1220615 1220911 enhancer 0 + 1220615 1220911 0,128,128 enhancer 106799842|GeneID:106799842 17135569|PMID:17135569 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000252v2_alt 2429953 2430335 promoter 0 + 2429953 2430335 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6_GL000252v2_alt 2429953 2432556 promoter 0 + 2429953 2432556 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6_GL000252v2_alt 2429954 2430084 conserved_region 0 + 2429954 2430084 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6_GL000252v2_alt 2429978 2429988 GC_signal 0 + 2429978 2429988 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6_GL000252v2_alt 2430039 2430067 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2430039 2430067 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6_GL000252v2_alt 2430059 2430079 protein_bind: Sp1 transcription factor 0 + 2430059 2430079 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6_GL000252v2_alt 2430059 2430079 protein_bind: Sp3 transcription factor 0 + 2430059 2430079 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6_GL000252v2_alt 2430063 2430073 GC_signal 0 + 2430063 2430073 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6_GL000252v2_alt 2430227 2430238 protein_bind: AT-rich interaction domain 3B 0 + 2430227 2430238 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6_GL000252v2_alt 2430488 2430518 protein_bind: aryl hydrocarbon receptor 0 + 2430488 2430518 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6_GL000252v2_alt 2431265 2431464 enhancer 0 + 2431265 2431464 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6_GL000252v2_alt 2431268 2431464 conserved_region 0 + 2431268 2431464 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6_GL000252v2_alt 2431320 2431350 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2431320 2431350 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000252v2_alt 2431381 2431411 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2431381 2431411 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000252v2_alt 2431424 2431443 protein_bind: E74 like ETS transcription factor 3 0 + 2431424 2431443 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6_GL000252v2_alt 2431805 2431910 conserved_region 0 + 2431805 2431910 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6_GL000252v2_alt 2432379 2432511 conserved_region 0 + 2432379 2432511 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6_GL000252v2_alt 3063028 3063248 rep_origin: HS-AB fragment 0 + 3063028 3063248 0,0,0 origin_of_replication HS-AB fragment; allows replication of a plasmid 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:8065368] HS-AB fragment; allows replication of a plasmid -chr6_GL000252v2_alt 3063087 3063094 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3063087 3063094 192,0,0 protein_binding_site HSP-MYC A 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC A | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000252v2_alt 3063157 3063686 rep_origin: C amplicon 0 + 3063157 3063686 0,0,0 origin_of_replication C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:fractionation evidence [ECO:0000100][PMID:8065368] C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA -chr6_GL000252v2_alt 3063162 3063169 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3063162 3063169 192,0,0 protein_binding_site HSP-MYC B 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC B | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000252v2_alt 4079109 4080729 meiotic 0 + 4079109 4080729 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000252v2_alt 4079669 4081265 meiotic 0 + 4079669 4081265 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000252v2_alt 4080093 4081093 meiotic 0 + 4080093 4081093 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000252v2_alt 4080500 4080516 nucleotide_motif 0 + 4080500 4080516 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000252v2_alt 4175267 4176608 meiotic 0 + 4175267 4176608 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000252v2_alt 4175401 4176701 meiotic 0 + 4175401 4176701 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000252v2_alt 4175622 4175635 nucleotide_motif 0 + 4175622 4175635 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000252v2_alt 4176610 4176626 nucleotide_motif 0 + 4176610 4176626 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000252v2_alt 4178951 4179751 meiotic 0 + 4178951 4179751 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000252v2_alt 4238776 4241704 meiotic 0 + 4238776 4241704 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000252v2_alt 4239039 4241704 meiotic 0 + 4239039 4241704 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000252v2_alt 4239955 4242398 meiotic 0 + 4239955 4242398 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes 107648866|GeneID:107648866 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes -chr6_GL000252v2_alt 4240659 4241860 meiotic 0 + 4240659 4241860 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648866|GeneID:107648866 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000252v2_alt 4241202 4241215 nucleotide_motif 0 + 4241202 4241215 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000252v2_alt 4242064 4242080 nucleotide_motif 0 + 4242064 4242080 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000252v2_alt 4246213 4249364 meiotic 0 + 4246213 4249364 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000252v2_alt 4247005 4247026 nucleotide_motif 0 + 4247005 4247026 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000252v2_alt 4247204 4247217 nucleotide_motif 0 + 4247204 4247217 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000252v2_alt 4247471 4249046 meiotic 0 + 4247471 4249046 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000252v2_alt 4248613 4249912 meiotic 0 + 4248613 4249912 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000252v2_alt 4248630 4248646 nucleotide_motif 0 + 4248630 4248646 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000252v2_alt 4252312 4254212 meiotic 0 + 4252312 4254212 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000252v2_alt 4253614 4254785 meiotic 0 + 4253614 4254785 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6_GL000252v2_alt 4253940 4254785 meiotic 0 + 4253940 4254785 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6_GL000252v2_alt 4254427 4254440 nucleotide_motif 0 + 4254427 4254440 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000253v2_alt 2481139 2481521 promoter 0 + 2481139 2481521 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6_GL000253v2_alt 2481139 2483743 promoter 0 + 2481139 2483743 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6_GL000253v2_alt 2481140 2481270 conserved_region 0 + 2481140 2481270 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6_GL000253v2_alt 2481164 2481174 GC_signal 0 + 2481164 2481174 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6_GL000253v2_alt 2481225 2481253 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2481225 2481253 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6_GL000253v2_alt 2481245 2481265 protein_bind: Sp1 transcription factor 0 + 2481245 2481265 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6_GL000253v2_alt 2481245 2481265 protein_bind: Sp3 transcription factor 0 + 2481245 2481265 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6_GL000253v2_alt 2481249 2481259 GC_signal 0 + 2481249 2481259 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6_GL000253v2_alt 2481413 2481424 protein_bind: AT-rich interaction domain 3B 0 + 2481413 2481424 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6_GL000253v2_alt 2481674 2481704 protein_bind: aryl hydrocarbon receptor 0 + 2481674 2481704 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6_GL000253v2_alt 2482451 2482650 enhancer 0 + 2482451 2482650 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6_GL000253v2_alt 2482454 2482650 conserved_region 0 + 2482454 2482650 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6_GL000253v2_alt 2482506 2482536 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2482506 2482536 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000253v2_alt 2482567 2482597 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2482567 2482597 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000253v2_alt 2482610 2482629 protein_bind: E74 like ETS transcription factor 3 0 + 2482610 2482629 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6_GL000253v2_alt 2482992 2483097 conserved_region 0 + 2482992 2483097 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6_GL000253v2_alt 2483566 2483698 conserved_region 0 + 2483566 2483698 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6_GL000253v2_alt 3989000 3989227 RP11-629J17 0 + 3989000 3989227 192,0,192 sequence_feature FISH-mapped clone FISH-mapped clone -chr6_GL000253v2_alt 4254890 4256510 meiotic 0 + 4254890 4256510 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000253v2_alt 4255450 4257046 meiotic 0 + 4255450 4257046 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000253v2_alt 4255874 4256874 meiotic 0 + 4255874 4256874 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000253v2_alt 4256281 4256297 nucleotide_motif 0 + 4256281 4256297 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000253v2_alt 4351104 4352447 meiotic 0 + 4351104 4352447 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000253v2_alt 4351238 4352540 meiotic 0 + 4351238 4352540 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000253v2_alt 4351459 4351472 nucleotide_motif 0 + 4351459 4351472 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000253v2_alt 4352449 4352465 nucleotide_motif 0 + 4352449 4352465 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000253v2_alt 4354790 4355590 meiotic 0 + 4354790 4355590 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000253v2_alt 4414590 4417521 meiotic 0 + 4414590 4417521 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000253v2_alt 4414853 4417521 meiotic 0 + 4414853 4417521 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000253v2_alt 4415774 4418215 meiotic 0 + 4415774 4418215 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes 107648866|GeneID:107648866 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes -chr6_GL000253v2_alt 4416478 4417677 meiotic 0 + 4416478 4417677 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648866|GeneID:107648866 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000253v2_alt 4417019 4417032 nucleotide_motif 0 + 4417019 4417032 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000253v2_alt 4417881 4417897 nucleotide_motif 0 + 4417881 4417897 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000253v2_alt 4422021 4425172 meiotic 0 + 4422021 4425172 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000253v2_alt 4422813 4422834 nucleotide_motif 0 + 4422813 4422834 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000253v2_alt 4423012 4423025 nucleotide_motif 0 + 4423012 4423025 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000253v2_alt 4423279 4424854 meiotic 0 + 4423279 4424854 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000253v2_alt 4424421 4425720 meiotic 0 + 4424421 4425720 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000253v2_alt 4424438 4424454 nucleotide_motif 0 + 4424438 4424454 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000253v2_alt 4428120 4430020 meiotic 0 + 4428120 4430020 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000253v2_alt 4429422 4430593 meiotic 0 + 4429422 4430593 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6_GL000253v2_alt 4429748 4430593 meiotic 0 + 4429748 4430593 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6_GL000253v2_alt 4430235 4430248 nucleotide_motif 0 + 4430235 4430248 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000254v2_alt 1153315 1153717 enhancer 0 + 1153315 1153717 0,128,128 enhancer 106783509|GeneID:106783509 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000254v2_alt 2514753 2515135 promoter 0 + 2514753 2515135 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6_GL000254v2_alt 2514753 2517356 promoter 0 + 2514753 2517356 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6_GL000254v2_alt 2514754 2514884 conserved_region 0 + 2514754 2514884 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6_GL000254v2_alt 2514778 2514788 GC_signal 0 + 2514778 2514788 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6_GL000254v2_alt 2514839 2514867 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2514839 2514867 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6_GL000254v2_alt 2514859 2514879 protein_bind: Sp1 transcription factor 0 + 2514859 2514879 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6_GL000254v2_alt 2514859 2514879 protein_bind: Sp3 transcription factor 0 + 2514859 2514879 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6_GL000254v2_alt 2514863 2514873 GC_signal 0 + 2514863 2514873 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6_GL000254v2_alt 2515027 2515038 protein_bind: AT-rich interaction domain 3B 0 + 2515027 2515038 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6_GL000254v2_alt 2515288 2515318 protein_bind: aryl hydrocarbon receptor 0 + 2515288 2515318 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6_GL000254v2_alt 2516065 2516264 enhancer 0 + 2516065 2516264 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6_GL000254v2_alt 2516068 2516264 conserved_region 0 + 2516068 2516264 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6_GL000254v2_alt 2516120 2516150 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2516120 2516150 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000254v2_alt 2516181 2516211 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2516181 2516211 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000254v2_alt 2516224 2516243 protein_bind: E74 like ETS transcription factor 3 0 + 2516224 2516243 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6_GL000254v2_alt 2516605 2516710 conserved_region 0 + 2516605 2516710 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6_GL000254v2_alt 2517179 2517311 conserved_region 0 + 2517179 2517311 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6_GL000254v2_alt 3379908 3381707 meiotic 0 + 3379908 3381707 160,82,45 recombination_feature this region was identified as a region with an increased recombination rate within the HapMap CEU population 106780800|GeneID:106780800 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a region with an increased recombination rate within the HapMap CEU population -chr6_GL000254v2_alt 3380593 3380890 non_allelic_homologous 0 + 3380593 3380890 160,82,45 recombination_feature sub-region CH-4', recombines with sub-region CH-4 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 1905948|PMID:1905948,11134109|PMID:11134109,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11134109, PMID:1905948, PMID:22156666] sub-region CH-4', recombines with sub-region CH-4 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3381052 3381060 non_allelic_homologous 0 + 3381052 3381060 160,82,45 recombination_feature sub-region CH-9', recombines with sub-region CH-9 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-9', recombines with sub-region CH-9 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3381114 3381165 non_allelic_homologous 0 + 3381114 3381165 160,82,45 recombination_feature sub-region CH-6', recombines with sub-region CH-6 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 19624807|PMID:19624807,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19624807, PMID:22156666] sub-region CH-6', recombines with sub-region CH-6 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3381165 3381458 non_allelic_homologous 0 + 3381165 3381458 160,82,45 recombination_feature sub-region CH-1', recombines with sub-region CH-1 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-1', recombines with sub-region CH-1 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3381336 3381349 nucleotide_motif 0 + 3381336 3381349 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780800|GeneID:106780800,1589|GeneID:1589 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000254v2_alt 3381523 3381539 nucleotide_motif 0 + 3381523 3381539 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780800|GeneID:106780800,1589|GeneID:1589 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000254v2_alt 3381580 3381834 non_allelic_homologous 0 + 3381580 3381834 160,82,45 recombination_feature sub-region CH-2', recombines with sub-region CH-2 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-2', recombines with sub-region CH-2 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3381848 3382215 non_allelic_homologous 0 + 3381848 3382215 160,82,45 recombination_feature sub-region CH-7', recombines with sub-region CH-7 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 20970527|PMID:20970527,22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20970527, PMID:22156666] sub-region CH-7', recombines with sub-region CH-7 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3382223 3382453 non_allelic_homologous 0 + 3382223 3382453 160,82,45 recombination_feature sub-region CH-5', recombines with sub-region CH-5 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-5', recombines with sub-region CH-5 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3382274 3383177 meiotic 0 + 3382274 3383177 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype 106780800|GeneID:106780800,1589|GeneID:1589 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype -chr6_GL000254v2_alt 3382454 3382567 non_allelic_homologous 0 + 3382454 3382567 160,82,45 recombination_feature sub-region CH-3', recombines with sub-region CH-3 within the CYP21A1P recombination region 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-3', recombines with sub-region CH-3 within the CYP21A1P recombination region -chr6_GL000254v2_alt 3382568 3382569 non_allelic_homologous 0 + 3382568 3382569 160,82,45 recombination_feature sub-region CH-8', recombines with sub-region CH-8 within the CYP21A1P recombination region. This sub-region is marked as 3' partial since the 3' end of the sub-region is unknown 106780800|GeneID:106780800,1589|GeneID:1589 22156666|PMID:22156666 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22156666] sub-region CH-8', recombines with sub-region CH-8 within the CYP21A1P recombination region. This sub-region is marked as 3' partial since the 3' end of the sub-region is unknown -chr6_GL000254v2_alt 3382690 3382706 nucleotide_motif 0 + 3382690 3382706 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780800|GeneID:106780800,1589|GeneID:1589 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000254v2_alt 4134608 4136228 meiotic 0 + 4134608 4136228 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000254v2_alt 4135168 4136764 meiotic 0 + 4135168 4136764 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000254v2_alt 4135592 4136592 meiotic 0 + 4135592 4136592 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000254v2_alt 4135999 4136015 nucleotide_motif 0 + 4135999 4136015 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000254v2_alt 4230779 4232122 meiotic 0 + 4230779 4232122 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000254v2_alt 4230913 4232215 meiotic 0 + 4230913 4232215 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000254v2_alt 4231134 4231147 nucleotide_motif 0 + 4231134 4231147 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000254v2_alt 4232124 4232140 nucleotide_motif 0 + 4232124 4232140 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000254v2_alt 4234465 4235265 meiotic 0 + 4234465 4235265 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000254v2_alt 4301727 4304878 meiotic 0 + 4301727 4304878 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000254v2_alt 4302519 4302540 nucleotide_motif 0 + 4302519 4302540 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000254v2_alt 4302718 4302731 nucleotide_motif 0 + 4302718 4302731 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000254v2_alt 4302985 4304560 meiotic 0 + 4302985 4304560 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000254v2_alt 4304127 4305427 meiotic 0 + 4304127 4305427 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000254v2_alt 4304144 4304160 nucleotide_motif 0 + 4304144 4304160 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000254v2_alt 4307827 4309727 meiotic 0 + 4307827 4309727 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000254v2_alt 4309129 4310299 meiotic 0 + 4309129 4310299 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6_GL000254v2_alt 4309455 4310299 meiotic 0 + 4309455 4310299 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6_GL000254v2_alt 4309942 4309955 nucleotide_motif 0 + 4309942 4309955 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000255v2_alt 1153334 1153736 enhancer 0 + 1153334 1153736 0,128,128 enhancer 106783509|GeneID:106783509 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000255v2_alt 1220058 1220354 enhancer 0 + 1220058 1220354 0,128,128 enhancer 106799842|GeneID:106799842 17135569|PMID:17135569 DESCRIPTION:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr6_GL000255v2_alt 2428669 2429051 promoter 0 + 2428669 2429051 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6_GL000255v2_alt 2428669 2431273 promoter 0 + 2428669 2431273 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6_GL000255v2_alt 2428670 2428800 conserved_region 0 + 2428670 2428800 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6_GL000255v2_alt 2428694 2428704 GC_signal 0 + 2428694 2428704 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6_GL000255v2_alt 2428755 2428783 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2428755 2428783 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6_GL000255v2_alt 2428775 2428795 protein_bind: Sp1 transcription factor 0 + 2428775 2428795 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6_GL000255v2_alt 2428775 2428795 protein_bind: Sp3 transcription factor 0 + 2428775 2428795 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6_GL000255v2_alt 2428779 2428789 GC_signal 0 + 2428779 2428789 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6_GL000255v2_alt 2428943 2428954 protein_bind: AT-rich interaction domain 3B 0 + 2428943 2428954 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6_GL000255v2_alt 2429204 2429234 protein_bind: aryl hydrocarbon receptor 0 + 2429204 2429234 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6_GL000255v2_alt 2429982 2430181 enhancer 0 + 2429982 2430181 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6_GL000255v2_alt 2429985 2430181 conserved_region 0 + 2429985 2430181 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6_GL000255v2_alt 2430037 2430067 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2430037 2430067 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000255v2_alt 2430098 2430128 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2430098 2430128 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000255v2_alt 2430141 2430160 protein_bind: E74 like ETS transcription factor 3 0 + 2430141 2430160 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6_GL000255v2_alt 2430522 2430627 conserved_region 0 + 2430522 2430627 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6_GL000255v2_alt 2431096 2431228 conserved_region 0 + 2431096 2431228 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6_GL000255v2_alt 3071077 3071297 rep_origin: HS-AB fragment 0 + 3071077 3071297 0,0,0 origin_of_replication HS-AB fragment; allows replication of a plasmid 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:8065368] HS-AB fragment; allows replication of a plasmid -chr6_GL000255v2_alt 3071136 3071143 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3071136 3071143 192,0,0 protein_binding_site HSP-MYC A 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC A | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000255v2_alt 3071206 3071735 rep_origin: C amplicon 0 + 3071206 3071735 0,0,0 origin_of_replication C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA 107063610|GeneID:107063610 8065368|PMID:8065368 EXISTENCE:fractionation evidence [ECO:0000100][PMID:8065368] C amplicon; peak of nascent strand synthesis detected by PCR of labelled, size-fractionated DNA -chr6_GL000255v2_alt 3071211 3071218 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 3071211 3071218 192,0,0 protein_binding_site HSP-MYC B 107063610|GeneID:107063610 1562593|PMID:1562593 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1562593] may be important in replication origin activity HSP-MYC B | may be important in replication origin activity | v-myc avian myelocytomatosis viral oncogene homolog -chr6_GL000255v2_alt 3264842 3265092 non_allelic_homologous 0 + 3264842 3265092 160,82,45 recombination_feature sub-region TNXA/TNXB-1', recombines with sub-region TNXA/TNXB-1 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 15081125|PMID:15081125 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:15081125] sub-region TNXA/TNXB-1', recombines with sub-region TNXA/TNXB-1 within the tenascin XA (pseudogene) recombination region -chr6_GL000255v2_alt 3266325 3267866 meiotic 0 + 3266325 3267866 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes 106780803|GeneID:106780803 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB, and PRDM9 AC genotypes -chr6_GL000255v2_alt 3267135 3269085 non_allelic_homologous 0 + 3267135 3269085 160,82,45 recombination_feature sub-region TNXA/TNXB-2', recombines with sub-region TNXA/TNXB-2 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 10207042|PMID:10207042 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:10207042] sub-region TNXA/TNXB-2', recombines with sub-region TNXA/TNXB-2 within the tenascin XA (pseudogene) recombination region -chr6_GL000255v2_alt 3267341 3267354 nucleotide_motif 0 + 3267341 3267354 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000255v2_alt 3267393 3267409 nucleotide_motif 0 + 3267393 3267409 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000255v2_alt 3267425 3267438 nucleotide_motif 0 + 3267425 3267438 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106780803|GeneID:106780803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000255v2_alt 3269084 3269357 non_allelic_homologous 0 + 3269084 3269357 160,82,45 recombination_feature sub-region TNXA/TNXB-3', recombines with sub-region TNXA/TNXB-3 within the tenascin XA (pseudogene) recombination region 106780803|GeneID:106780803 12354783|PMID:12354783 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12354783] sub-region TNXA/TNXB-3', recombines with sub-region TNXA/TNXB-3 within the tenascin XA (pseudogene) recombination region -chr6_GL000255v2_alt 4029825 4031445 meiotic 0 + 4029825 4031445 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000255v2_alt 4030385 4031981 meiotic 0 + 4030385 4031981 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000255v2_alt 4030809 4031809 meiotic 0 + 4030809 4031809 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000255v2_alt 4031216 4031232 nucleotide_motif 0 + 4031216 4031232 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000255v2_alt 4126044 4127387 meiotic 0 + 4126044 4127387 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000255v2_alt 4126178 4127480 meiotic 0 + 4126178 4127480 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000255v2_alt 4126399 4126412 nucleotide_motif 0 + 4126399 4126412 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000255v2_alt 4127389 4127405 nucleotide_motif 0 + 4127389 4127405 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000255v2_alt 4129730 4130530 meiotic 0 + 4129730 4130530 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000255v2_alt 4189549 4192476 meiotic 0 + 4189549 4192476 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000255v2_alt 4189812 4192476 meiotic 0 + 4189812 4192476 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000255v2_alt 4190727 4193170 meiotic 0 + 4190727 4193170 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes 107648866|GeneID:107648866 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes -chr6_GL000255v2_alt 4191431 4192632 meiotic 0 + 4191431 4192632 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648866|GeneID:107648866 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000255v2_alt 4191974 4191987 nucleotide_motif 0 + 4191974 4191987 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000255v2_alt 4192836 4192852 nucleotide_motif 0 + 4192836 4192852 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000255v2_alt 4196945 4200097 meiotic 0 + 4196945 4200097 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000255v2_alt 4197737 4197758 nucleotide_motif 0 + 4197737 4197758 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000255v2_alt 4197936 4197949 nucleotide_motif 0 + 4197936 4197949 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000255v2_alt 4198204 4199779 meiotic 0 + 4198204 4199779 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000255v2_alt 4199346 4200646 meiotic 0 + 4199346 4200646 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000255v2_alt 4199363 4199379 nucleotide_motif 0 + 4199363 4199379 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000255v2_alt 4203046 4204946 meiotic 0 + 4203046 4204946 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000255v2_alt 4204348 4205519 meiotic 0 + 4204348 4205519 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6_GL000255v2_alt 4204674 4205519 meiotic 0 + 4204674 4205519 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6_GL000255v2_alt 4205161 4205174 nucleotide_motif 0 + 4205161 4205174 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000256v2_alt 2474051 2474433 promoter 0 + 2474051 2474433 0,128,128 promoter -380 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -380 promoter fragment -chr6_GL000256v2_alt 2474051 2476654 promoter 0 + 2474051 2476654 0,128,128 promoter -2601 promoter fragment 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16149048] -2601 promoter fragment -chr6_GL000256v2_alt 2474052 2474182 conserved_region 0 + 2474052 2474182 192,0,192 sequence_feature conserved region; CR1 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR1 -chr6_GL000256v2_alt 2474076 2474086 GC_signal 0 + 2474076 2474086 0,128,128 GC_rich_promoter_region GC-2 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-2 | important for promoter activity -chr6_GL000256v2_alt 2474137 2474165 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2474137 2474165 192,0,0 protein_binding_site 1st SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of promoter activity 1st SF-1 site | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr6_GL000256v2_alt 2474157 2474177 protein_bind: Sp1 transcription factor 0 + 2474157 2474177 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] positive regulation of promoter activity GC-1 probe | positive regulation of promoter activity | Sp1 transcription factor -chr6_GL000256v2_alt 2474157 2474177 protein_bind: Sp3 transcription factor 0 + 2474157 2474177 192,0,0 protein_binding_site GC-1 probe 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16149048] may negatively regulate promoter activity GC-1 probe | may negatively regulate promoter activity | Sp3 transcription factor -chr6_GL000256v2_alt 2474161 2474171 GC_signal 0 + 2474161 2474171 0,128,128 GC_rich_promoter_region GC-1 108961161|GeneID:108961161 16149048|PMID:16149048 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:16149048] important for promoter activity GC-1 | important for promoter activity -chr6_GL000256v2_alt 2474325 2474336 protein_bind: AT-rich interaction domain 3B 0 + 2474325 2474336 192,0,0 protein_binding_site ARID3B RE3 108961161|GeneID:108961161 25858147|PMID:25858147 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25858147] positive regulation of promoter activity ARID3B RE3 | positive regulation of promoter activity | AT-rich interaction domain 3B -chr6_GL000256v2_alt 2474586 2474616 protein_bind: aryl hydrocarbon receptor 0 + 2474586 2474616 192,0,0 protein_binding_site AHRE1 108961161|GeneID:108961161 26059097|PMID:26059097 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26059097] AHRE1 | aryl hydrocarbon receptor -chr6_GL000256v2_alt 2475363 2475562 enhancer 0 + 2475363 2475562 0,128,128 enhancer CR2 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17226773] CR2 -chr6_GL000256v2_alt 2475366 2475562 conserved_region 0 + 2475366 2475562 192,0,192 sequence_feature conserved region; CR2 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR2 -chr6_GL000256v2_alt 2475418 2475448 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2475418 2475448 192,0,0 protein_binding_site 2nd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 2nd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000256v2_alt 2475479 2475509 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2475479 2475509 192,0,0 protein_binding_site 3rd SF-1 site 108961161|GeneID:108961161 17226773|PMID:17226773 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17226773] positive regulation of transcription 3rd SF-1 site | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chr6_GL000256v2_alt 2475522 2475541 protein_bind: E74 like ETS transcription factor 3 0 + 2475522 2475541 192,0,0 protein_binding_site CR2 EBS (ETS binding site) 108961161|GeneID:108961161 24971534|PMID:24971534 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24971534] negative regulation of transcription CR2 EBS (ETS binding site) | negative regulation of transcription | E74 like ETS transcription factor 3 -chr6_GL000256v2_alt 2475903 2476008 conserved_region 0 + 2475903 2476008 192,0,192 sequence_feature conserved region; CR3 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR3 -chr6_GL000256v2_alt 2476477 2476609 conserved_region 0 + 2476477 2476609 192,0,192 sequence_feature conserved region; CR4 108961161|GeneID:108961161 11309664|PMID:11309664 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11309664] conserved region; CR4 -chr6_GL000256v2_alt 3979185 3979412 RP11-629J17 0 + 3979185 3979412 192,0,192 sequence_feature FISH-mapped clone FISH-mapped clone -chr6_GL000256v2_alt 4234792 4236412 meiotic 0 + 4234792 4236412 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000256v2_alt 4235352 4236948 meiotic 0 + 4235352 4236948 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648851|GeneID:107648851 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000256v2_alt 4235776 4236776 meiotic 0 + 4235776 4236776 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648851|GeneID:107648851 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000256v2_alt 4236183 4236199 nucleotide_motif 0 + 4236183 4236199 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648851|GeneID:107648851 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000256v2_alt 4330967 4332312 meiotic 0 + 4330967 4332312 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107648859|GeneID:107648859 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr6_GL000256v2_alt 4331101 4332405 meiotic 0 + 4331101 4332405 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648859|GeneID:107648859 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000256v2_alt 4331322 4331335 nucleotide_motif 0 + 4331322 4331335 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648859|GeneID:107648859 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000256v2_alt 4332314 4332330 nucleotide_motif 0 + 4332314 4332330 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648859|GeneID:107648859 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000256v2_alt 4334655 4335455 meiotic 0 + 4334655 4335455 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648856|GeneID:107648856 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000256v2_alt 4444460 4447389 meiotic 0 + 4444460 4447389 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000256v2_alt 4444723 4447389 meiotic 0 + 4444723 4447389 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648866|GeneID:107648866 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000256v2_alt 4445640 4448083 meiotic 0 + 4445640 4448083 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes 107648866|GeneID:107648866 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PDRM9 A/B and PRDM9 A/C genotypes -chr6_GL000256v2_alt 4446344 4447545 meiotic 0 + 4446344 4447545 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648866|GeneID:107648866 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000256v2_alt 4446887 4446900 nucleotide_motif 0 + 4446887 4446900 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000256v2_alt 4447749 4447765 nucleotide_motif 0 + 4447749 4447765 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648866|GeneID:107648866 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000256v2_alt 4451867 4455018 meiotic 0 + 4451867 4455018 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr6_GL000256v2_alt 4452659 4452680 nucleotide_motif 0 + 4452659 4452680 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000256v2_alt 4452858 4452871 nucleotide_motif 0 + 4452858 4452871 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr6_GL000256v2_alt 4453125 4454700 meiotic 0 + 4453125 4454700 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107648864|GeneID:107648864 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr6_GL000256v2_alt 4454267 4455566 meiotic 0 + 4454267 4455566 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648864|GeneID:107648864 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000256v2_alt 4454284 4454300 nucleotide_motif 0 + 4454284 4454300 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648864|GeneID:107648864 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_GL000256v2_alt 4457966 4459866 meiotic 0 + 4457966 4459866 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European ancestry 107648863|GeneID:107648863 11586303|PMID:11586303 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:11586303] crossovers mapped in sperm cells of males of European ancestry -chr6_GL000256v2_alt 4459268 4460438 meiotic 0 + 4459268 4460438 160,82,45 recombination_feature increased recombination frequency within the HapMap YRI population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap YRI population -chr6_GL000256v2_alt 4459594 4460438 meiotic 0 + 4459594 4460438 160,82,45 recombination_feature increased recombination frequency within the HapMap CEU population 107648863|GeneID:107648863 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] increased recombination frequency within the HapMap CEU population -chr6_GL000256v2_alt 4460081 4460094 nucleotide_motif 0 + 4460081 4460094 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107648863|GeneID:107648863 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr6_KI270798v1_alt 174567 176337 enhancer 0 + 174567 176337 0,128,128 enhancer VISTA enhancer hs1310 110121051|GeneID:110121051 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/6] | hindbrain (rhombencephalon)[5/6] | somite[3/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] VISTA enhancer hs1310 | enhancer in: neural tube[4/6] | hindbrain (rhombencephalon)[5/6] | somite[3/6] | midbrain (mesencephalon)[5/6] | forebrain[5/6] -chr7 1023136 1023694 enhancer 0 + 1023136 1023694 0,128,128 enhancer 106799841|GeneID:106799841 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr7 1225517 1226682 enhancer 0 + 1225517 1226682 0,128,128 enhancer VISTA enhancer hs293 110120649|GeneID:110120649 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/10] | forebrain[8/10] | branchial arch[3/10] VISTA enhancer hs293 | enhancer in: midbrain (mesencephalon)[8/10] | forebrain[8/10] | branchial arch[3/10] -chr7 1271209 1272771 meiotic 0 + 1271209 1272771 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB and PRDM9 AC genotypes 109623491|GeneID:109623491 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA, PRDM9 AB and PRDM9 AC genotypes -chr7 1272057 1273138 repeat_instability_region 0 + 1272057 1273138 192,0,192 sequence_feature repeat instability region; instability of the VNTR region has been observed 109623491|GeneID:109623491 9670029|PMID:9670029 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9670029] repeat instability region; instability of the VNTR region has been observed -chr7 1272059 1273139 tandem 0 + 1272059 1273139 0,0,192 repeat_region 109623491|GeneID:109623491 repeat_region -chr7 1520509 1521048 enhancer 0 + 1520509 1521048 0,128,128 enhancer amplified fragment containing most of the chr7:1560213-1560697 (GRCh37) CAGE region 108281146|GeneID:108281146 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr7:1560213-1560697 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa and HepG2 cells -chr7 1520576 1521061 CAGE_cluster 0 + 1520576 1521061 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281146|GeneID:108281146 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr7 2507760 2508616 enhancer 0 + 2507760 2508616 0,128,128 enhancer 106799845|GeneID:106799845 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr7 5632286 5636913 enhancer 0 + 5632286 5636913 0,128,128 enhancer VISTA enhancer hs1623 110121162|GeneID:110121162 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] | branchial arch[5/5] | facial mesenchyme[5/5] | other[4/5] VISTA enhancer hs1623 | enhancer in: midbrain (mesencephalon)[4/5] | branchial arch[5/5] | facial mesenchyme[5/5] | other[4/5] -chr7 5922590 5923100 enhancer 0 + 5922590 5923100 0,128,128 enhancer 106783574|GeneID:106783574,51622|GeneID:51622 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr7 9231677 9232728 enhancer 0 + 9231677 9232728 0,128,128 enhancer VISTA enhancer hs799 110120773|GeneID:110120773 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[12/13] VISTA enhancer hs799 | enhancer in: forebrain[12/13] -chr7 10644690 10645732 enhancer 0 + 10644690 10645732 0,128,128 enhancer VISTA enhancer hs793 110120772|GeneID:110120772,107986766|GeneID:107986766 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[10/13] VISTA enhancer hs793 | enhancer in: midbrain (mesencephalon)[10/13] -chr7 13411294 13412094 enhancer 0 + 13411294 13412094 0,128,128 enhancer VISTA enhancer hs749 110120758|GeneID:110120758,107986770|GeneID:107986770 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/10] | midbrain (mesencephalon)[9/10] VISTA enhancer hs749 | enhancer in: hindbrain (rhombencephalon)[9/10] | midbrain (mesencephalon)[9/10] -chr7 13466581 13467651 enhancer 0 + 13466581 13467651 0,128,128 enhancer VISTA enhancer hs550 110120700|GeneID:110120700,107986770|GeneID:107986770 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/5] | branchial arch[3/5] VISTA enhancer hs550 | enhancer in: forebrain[3/5] | branchial arch[3/5] -chr7 14340001 14341115 enhancer 0 + 14340001 14341115 0,128,128 enhancer VISTA enhancer hs816 110120778|GeneID:110120778 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/10] VISTA enhancer hs816 | enhancer in: hindbrain (rhombencephalon)[9/10] -chr7 18829092 18830782 enhancer 0 + 18829092 18830782 0,128,128 enhancer VISTA enhancer hs2306 110121290|GeneID:110121290,9734|GeneID:9734 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/4] VISTA enhancer hs2306 | enhancer in: limb[4/4] -chr7 18834648 18835746 enhancer 0 + 18834648 18835746 0,128,128 enhancer VISTA enhancer hs2307 110121291|GeneID:110121291,9734|GeneID:9734 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[2/2] | branchial arch[2/2] VISTA enhancer hs2307 | enhancer in: limb[2/2] | branchial arch[2/2] -chr7 18846347 18847607 enhancer 0 + 18846347 18847607 0,128,128 enhancer VISTA enhancer hs644 110120728|GeneID:110120728,9734|GeneID:9734 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/9] | forebrain[6/9] | limb[6/9] VISTA enhancer hs644 | enhancer in: hindbrain (rhombencephalon)[4/9] | forebrain[6/9] | limb[6/9] -chr7 20793008 20794283 enhancer 0 + 20793008 20794283 0,128,128 enhancer VISTA enhancer hs844 110120786|GeneID:110120786 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] | facial mesenchyme[3/6] VISTA enhancer hs844 | enhancer in: forebrain[5/6] | facial mesenchyme[3/6] -chr7 20799223 20800776 enhancer 0 + 20799223 20800776 0,128,128 enhancer VISTA enhancer hs1019 110120964|GeneID:110120964 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] VISTA enhancer hs1019 | enhancer in: forebrain[4/6] -chr7 20958048 20959483 enhancer 0 + 20958048 20959483 0,128,128 enhancer VISTA enhancer hs1007 110120961|GeneID:110120961,104355138|GeneID:104355138 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/3] | facial mesenchyme[3/3] VISTA enhancer hs1007 | enhancer in: forebrain[3/3] | facial mesenchyme[3/3] -chr7 20963660 20965131 enhancer 0 + 20963660 20965131 0,128,128 enhancer VISTA enhancer hs110 110120589|GeneID:110120589,104355138|GeneID:104355138 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs110 | enhancer in: forebrain[4/4] -chr7 20979931 20981581 enhancer 0 + 20979931 20981581 0,128,128 enhancer VISTA enhancer hs1148 110121006|GeneID:110121006,104355138|GeneID:104355138 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/4] VISTA enhancer hs1148 | enhancer in: limb[4/4] -chr7 21041181 21042467 enhancer 0 + 21041181 21042467 0,128,128 enhancer VISTA enhancer hs1226 110121034|GeneID:110121034 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[12/16] | hindbrain (rhombencephalon)[12/16] | midbrain (mesencephalon)[13/16] | forebrain[14/16] | eye[12/16] | cranial nerve[10/16] VISTA enhancer hs1226 | enhancer in: neural tube[12/16] | hindbrain (rhombencephalon)[12/16] | midbrain (mesencephalon)[13/16] | forebrain[14/16] | eye[12/16] | cranial nerve[10/16] -chr7 21044722 21045841 enhancer 0 + 21044722 21045841 0,128,128 enhancer VISTA enhancer hs701 110120749|GeneID:110120749 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/8] VISTA enhancer hs701 | enhancer in: midbrain (mesencephalon)[4/8] -chr7 21771751 21772384 enhancer 0 + 21771751 21772384 0,128,128 enhancer VISTA enhancer hs294 110120650|GeneID:110120650,8701|GeneID:8701 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/5] VISTA enhancer hs294 | enhancer in: neural tube[3/5] -chr7 22051743 22052939 enhancer 0 + 22051743 22052939 0,128,128 enhancer VISTA enhancer hs807 110120775|GeneID:110120775 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/9] VISTA enhancer hs807 | enhancer in: forebrain[8/9] -chr7 22583120 22583585 CAGE_cluster 0 + 22583120 22583585 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254689|GeneID:108254689 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr7 22583145 22583720 enhancer 0 + 22583145 22583720 0,128,128 enhancer amplified fragment containing most of the chr7:22622740-22623204 (GRCh37) CAGE region 108254689|GeneID:108254689 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr7:22622740-22623204 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr7 25493987 25497261 enhancer 0 + 25493987 25497261 0,128,128 enhancer VISTA enhancer hs1677 110121185|GeneID:110121185 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[3/6] VISTA enhancer hs1677 | enhancer in: neural tube[6/6] | hindbrain (rhombencephalon)[6/6] | midbrain (mesencephalon)[3/6] -chr7 25655416 25657996 enhancer 0 + 25655416 25657996 0,128,128 enhancer VISTA enhancer hs1600 110121156|GeneID:110121156 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] | limb[3/5] | branchial arch[4/5] | nose[4/5] | facial mesenchyme[4/5] VISTA enhancer hs1600 | enhancer in: forebrain[4/5] | limb[3/5] | branchial arch[4/5] | nose[4/5] | facial mesenchyme[4/5] -chr7 25752282 25754662 enhancer 0 + 25752282 25754662 0,128,128 enhancer VISTA enhancer hs1325 110121058|GeneID:110121058 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[5/5] VISTA enhancer hs1325 | enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[5/5] | forebrain[5/5] -chr7 25879379 25882921 enhancer 0 + 25879379 25882921 0,128,128 enhancer VISTA enhancer hs1465 110121115|GeneID:110121115 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[9/9] | limb[9/9] VISTA enhancer hs1465 | enhancer in: somite[9/9] | limb[9/9] -chr7 26485041 26486016 enhancer 0 + 26485041 26486016 0,128,128 enhancer VISTA enhancer hs769 110120765|GeneID:110120765 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] VISTA enhancer hs769 | enhancer in: neural tube[5/7] -chr7 26689077 26690183 enhancer 0 + 26689077 26690183 0,128,128 enhancer VISTA enhancer hs296 110120651|GeneID:110120651 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] VISTA enhancer hs296 | enhancer in: hindbrain (rhombencephalon)[4/5] -chr7 27163061 27169241 mitotic 0 + 27163061 27169241 160,82,45 recombination_feature NUP98-HOXA9 recombination region recombines with the NUP98 intron 12 (HOXA9) recombination sub-region of the nucleoporin 98kDa recombination region 107197952|GeneID:107197952 8563754|PMID:8563754 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:8563754] NUP98-HOXA9 recombination region recombines with the NUP98 intron 12 (HOXA9) recombination sub-region of the nucleoporin 98kDa recombination region -chr7 27183028 27185218 mitotic 0 + 27183028 27185218 160,82,45 recombination_feature NUP98-HOXA11 recombination region recombines with the NUP98 intron 12 (HOXA11 intron) recombination sub-region within the nucleoporin 98kDa recombination region 107126281|GeneID:107126281 11830496|PMID:11830496,19338047|PMID:19338047 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11830496, PMID:19338047] NUP98-HOXA11 recombination region recombines with the NUP98 intron 12 (HOXA11 intron) recombination sub-region within the nucleoporin 98kDa recombination region -chr7 27198442 27202743 mitotic 0 + 27198442 27202743 160,82,45 recombination_feature NUP98-HOXA13 recombination region recombines with sequences near or within NUP98 intron 12 of the nucleoporin 98kDa recombination region, but the exact location has not been determined 107126288|GeneID:107126288 11830496|PMID:11830496 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11830496] NUP98-HOXA13 recombination region recombines with sequences near or within NUP98 intron 12 of the nucleoporin 98kDa recombination region, but the exact location has not been determined -chr7 27248648 27249872 enhancer 0 + 27248648 27249872 0,128,128 enhancer VISTA enhancer hs629 110120719|GeneID:110120719 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/8] VISTA enhancer hs629 | enhancer in: dorsal root ganglion[4/8] -chr7 28075283 28078152 enhancer 0 + 28075283 28078152 0,128,128 enhancer VISTA enhancer hs1430 110121099|GeneID:110121099 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[11/12] VISTA enhancer hs1430 | enhancer in: limb[11/12] -chr7 28591043 28595265 enhancer 0 + 28591043 28595265 0,128,128 enhancer VISTA enhancer hs1604 110121158|GeneID:110121158,9586|GeneID:9586 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/10] | branchial arch[10/10] | nose[10/10] | genital tubercle[9/10] | facial mesenchyme[10/10] VISTA enhancer hs1604 | enhancer in: limb[10/10] | branchial arch[10/10] | nose[10/10] | genital tubercle[9/10] | facial mesenchyme[10/10] -chr7 31362299 31363402 enhancer 0 + 31362299 31363402 0,128,128 enhancer VISTA enhancer hs297 110120652|GeneID:110120652 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: melanocytes[4/5] VISTA enhancer hs297 | enhancer in: melanocytes[4/5] -chr7 34058349 34060399 enhancer 0 + 34058349 34060399 0,128,128 enhancer VISTA enhancer hs1336 110121066|GeneID:110121066,168667|GeneID:168667 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/6] | forebrain[6/6] VISTA enhancer hs1336 | enhancer in: neural tube[4/6] | forebrain[6/6] -chr7 35228901 35229768 enhancer 0 + 35228901 35229768 0,128,128 enhancer VISTA enhancer hs466 110120686|GeneID:110120686 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[3/4] VISTA enhancer hs466 | enhancer in: facial mesenchyme[3/4] -chr7 35373114 35376739 enhancer 0 + 35373114 35376739 0,128,128 enhancer VISTA enhancer hs1659 110121180|GeneID:110121180 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[9/9] VISTA enhancer hs1659 | enhancer in: heart[9/9] -chr7 35415189 35416608 enhancer 0 + 35415189 35416608 0,128,128 enhancer VISTA enhancer hs461 110120684|GeneID:110120684 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[9/9] VISTA enhancer hs461 | enhancer in: eye[9/9] -chr7 35418940 35419912 enhancer 0 + 35418940 35419912 0,128,128 enhancer VISTA enhancer hs472 110120687|GeneID:110120687 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] | eye[6/6] | heart[6/6] VISTA enhancer hs472 | enhancer in: hindbrain (rhombencephalon)[5/6] | eye[6/6] | heart[6/6] -chr7 35465573 35466732 enhancer 0 + 35465573 35466732 0,128,128 enhancer VISTA enhancer hs463 110120685|GeneID:110120685 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/6] VISTA enhancer hs463 | enhancer in: heart[5/6] -chr7 37078247 37078572 rep_origin: hors8 amplicon 0 - 37078247 37078572 0,0,0 origin_of_replication hors8 amplicon; detected by quantitative PCR of lambda exonuclease-treated nascent strands; allows replication of a plasmid 107063542|GeneID:107063542,9844|GeneID:9844 16823771|PMID:16823771 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:16823771] hors8 amplicon; detected by quantitative PCR of lambda exonuclease-treated nascent strands; allows replication of a plasmid -chr7 37078270 37078459 protein_bind: X-ray repair complementing defective repair in Chinese hamster cells 5 0 - 37078270 37078459 192,0,0 protein_binding_site 186 bp probe similar to core monkey ors8 sequence 107063542|GeneID:107063542,9844|GeneID:9844 19638425|PMID:19638425 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19638425] recruits topoisomerase (DNA) II beta 186 bp probe similar to core monkey ors8 sequence | recruits topoisomerase (DNA) II beta | X-ray repair complementing defective repair in Chinese hamster cells 5 -chr7 38291924 38291929 TRGV11 leader sequence 0 - 38291924 38291929 192,0,192 sequence_feature TRGV11 leader sequence 6985|GeneID:6985 TRGV11 leader sequence -chr7 38292035 38292078 TRGV11 leader sequence 0 - 38292035 38292078 192,0,192 sequence_feature TRGV11 leader sequence 6985|GeneID:6985 TRGV11 leader sequence -chr7 38296068 38296079 TRGVB leader sequence 0 - 38296068 38296079 192,0,192 sequence_feature TRGVB leader sequence 6987|GeneID:6987 TRGVB leader sequence -chr7 38296190 38296233 TRGVB leader sequence 0 - 38296190 38296233 192,0,192 sequence_feature TRGVB leader sequence 6987|GeneID:6987 TRGVB leader sequence -chr7 38299809 38300129 TRGV10 leader sequence 0 - 38299809 38300129 192,0,192 sequence_feature TRGV10 leader sequence 6984|GeneID:6984 TRGV10 leader sequence -chr7 38300240 38300280 TRGV10 leader sequence 0 - 38300240 38300280 192,0,192 sequence_feature TRGV10 leader sequence 6984|GeneID:6984 TRGV10 leader sequence -chr7 38317322 38317336 TRGV9 leader sequence 0 - 38317322 38317336 192,0,192 sequence_feature TRGV9 leader sequence 6983|GeneID:6983 TRGV9 leader sequence -chr7 38317346 38317492 TRGV9 leader sequence 0 - 38317346 38317492 192,0,192 sequence_feature TRGV9 leader sequence 6983|GeneID:6983 TRGV9 leader sequence -chr7 38322730 38322741 TRGVA leader sequence 0 - 38322730 38322741 192,0,192 sequence_feature TRGVA leader sequence 6986|GeneID:6986 TRGVA leader sequence -chr7 38322820 38322863 TRGVA leader sequence 0 - 38322820 38322863 192,0,192 sequence_feature TRGVA leader sequence 6986|GeneID:6986 TRGVA leader sequence -chr7 38330642 38330653 TRGV8 leader sequence 0 - 38330642 38330653 192,0,192 sequence_feature TRGV8 leader sequence 6982|GeneID:6982 TRGV8 leader sequence -chr7 38330778 38330821 TRGV8 leader sequence 0 - 38330778 38330821 192,0,192 sequence_feature TRGV8 leader sequence 6982|GeneID:6982 TRGV8 leader sequence -chr7 38335339 38335350 TRGV7 leader sequence 0 - 38335339 38335350 192,0,192 sequence_feature TRGV7 leader sequence 6981|GeneID:6981 TRGV7 leader sequence -chr7 38335471 38335514 TRGV7 leader sequence 0 - 38335471 38335514 192,0,192 sequence_feature TRGV7 leader sequence 6981|GeneID:6981 TRGV7 leader sequence -chr7 38340998 38341009 TRGV6 leader sequence 0 - 38340998 38341009 192,0,192 sequence_feature TRGV6 leader sequence 6980|GeneID:6980 TRGV6 leader sequence -chr7 38341128 38341171 TRGV6 leader sequence 0 - 38341128 38341171 192,0,192 sequence_feature TRGV6 leader sequence 6980|GeneID:6980 TRGV6 leader sequence -chr7 38345329 38345342 TRGV5P leader sequence 0 - 38345329 38345342 192,0,192 sequence_feature TRGV5P leader sequence 6979|GeneID:6979 TRGV5P leader sequence -chr7 38345456 38345499 TRGV5P leader sequence 0 - 38345456 38345499 192,0,192 sequence_feature TRGV5P leader sequence 6979|GeneID:6979 TRGV5P leader sequence -chr7 38349654 38349665 TRGV5 leader sequence 0 - 38349654 38349665 192,0,192 sequence_feature TRGV5 leader sequence 6978|GeneID:6978 TRGV5 leader sequence -chr7 38349781 38349824 TRGV5 leader sequence 0 - 38349781 38349824 192,0,192 sequence_feature TRGV5 leader sequence 6978|GeneID:6978 TRGV5 leader sequence -chr7 38354014 38354025 TRGV4 leader sequence 0 - 38354014 38354025 192,0,192 sequence_feature TRGV4 leader sequence 6977|GeneID:6977 TRGV4 leader sequence -chr7 38354140 38354183 TRGV4 leader sequence 0 - 38354140 38354183 192,0,192 sequence_feature TRGV4 leader sequence 6977|GeneID:6977 TRGV4 leader sequence -chr7 38358811 38358822 TRGV3 leader sequence 0 - 38358811 38358822 192,0,192 sequence_feature TRGV3 leader sequence 6976|GeneID:6976 TRGV3 leader sequence -chr7 38358936 38358979 TRGV3 leader sequence 0 - 38358936 38358979 192,0,192 sequence_feature TRGV3 leader sequence 6976|GeneID:6976 TRGV3 leader sequence -chr7 38363163 38363174 TRGV2 leader sequence 0 - 38363163 38363174 192,0,192 sequence_feature TRGV2 leader sequence 6974|GeneID:6974 TRGV2 leader sequence -chr7 38363285 38363328 TRGV2 leader sequence 0 - 38363285 38363328 192,0,192 sequence_feature TRGV2 leader sequence 6974|GeneID:6974 TRGV2 leader sequence -chr7 38367882 38367893 TRGV1 leader sequence 0 - 38367882 38367893 192,0,192 sequence_feature TRGV1 leader sequence 6973|GeneID:6973 TRGV1 leader sequence -chr7 38368012 38368055 TRGV1 leader sequence 0 - 38368012 38368055 192,0,192 sequence_feature TRGV1 leader sequence 6973|GeneID:6973 TRGV1 leader sequence -chr7 42146002 42147909 enhancer 0 + 42146002 42147909 0,128,128 enhancer VISTA enhancer hs1586 110121152|GeneID:110121152 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/3] VISTA enhancer hs1586 | enhancer in: limb[3/3] -chr7 42152128 42154039 enhancer 0 + 42152128 42154039 0,128,128 enhancer VISTA enhancer hs111 110120590|GeneID:110120590 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs111 | enhancer in: forebrain[4/4] -chr7 42213231 42214961 enhancer 0 + 42213231 42214961 0,128,128 enhancer VISTA enhancer hs1213 110121030|GeneID:110121030 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] | forebrain[3/6] VISTA enhancer hs1213 | enhancer in: hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] | forebrain[3/6] -chr7 44638025 44638536 enhancer 0 + 44638025 44638536 0,128,128 enhancer amplified fragment containing most of the FANTOM5 chr7:44677628-44678244 (GRCh37) CAGE region 108192210|GeneID:108192210,4967|GeneID:4967 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the FANTOM5 chr7:44677628-44678244 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr7 44638028 44638645 CAGE_cluster 0 + 44638028 44638645 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108192210|GeneID:108192210,4967|GeneID:4967 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr7 46515577 46516237 epigenetically_modified_region 0 + 46515577 46516237 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells 108281173|GeneID:108281173 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells -chr7 46515653 46516166 enhancer 0 + 46515653 46516166 0,128,128 enhancer amplified fragment containing most of the chr7:46555176-46555835 (GRCh37) region with regulatory potential 108281173|GeneID:108281173 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing most of the chr7:46555176-46555835 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr7 50318703 50318815 enhancer 0 + 50318703 50318815 0,128,128 enhancer 106783492|GeneID:106783492,10320|GeneID:10320 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr7 50496543 50498008 enhancer 0 + 50496543 50498008 0,128,128 enhancer VISTA enhancer hs2059 110121245|GeneID:110121245 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[8/9] VISTA enhancer hs2059 | enhancer in: heart[8/9] -chr7 55887600 55887639 tandem 0 + 55887600 55887639 0,0,192 repeat_region 109363672|GeneID:109363672,349075|GeneID:349075 repeat_region -chr7 55887601 55887637 repeat_instability_region 0 + 55887601 55887637 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat may be associated with autism spectrum disorder 109363672|GeneID:109363672,349075|GeneID:349075 25196122|PMID:25196122 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:25196122] repeat instability region; expansion of the (CGG)n trinucleotide repeat may be associated with autism spectrum disorder -chr7 69860881 69862698 enhancer 0 + 69860881 69862698 0,128,128 enhancer VISTA enhancer hs2315 110121297|GeneID:110121297,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/13] | midbrain (mesencephalon)[12/13] | forebrain[5/13] | eye[11/13] VISTA enhancer hs2315 | enhancer in: hindbrain (rhombencephalon)[4/13] | midbrain (mesencephalon)[12/13] | forebrain[5/13] | eye[11/13] -chr7 69934083 69935696 enhancer 0 + 69934083 69935696 0,128,128 enhancer VISTA enhancer hs1660 110121181|GeneID:110121181,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[5/8] VISTA enhancer hs1660 | enhancer in: ear[5/8] -chr7 70131992 70133277 enhancer 0 + 70131992 70133277 0,128,128 enhancer VISTA enhancer hs1425 110121097|GeneID:110121097,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] VISTA enhancer hs1425 | enhancer in: midbrain (mesencephalon)[4/6] -chr7 70181387 70184043 enhancer 0 + 70181387 70184043 0,128,128 enhancer VISTA enhancer hs2316 110121298|GeneID:110121298,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[3/5] VISTA enhancer hs2316 | enhancer in: eye[3/5] -chr7 70210129 70210889 enhancer 0 + 70210129 70210889 0,128,128 enhancer heart enhancer 21 108004522|GeneID:108004522,26053|GeneID:26053 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 21 | enhancer in heart -chr7 70237244 70238629 enhancer 0 + 70237244 70238629 0,128,128 enhancer VISTA enhancer hs658 110120735|GeneID:110120735,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/15] | midbrain (mesencephalon)[11/15] VISTA enhancer hs658 | enhancer in: neural tube[9/15] | midbrain (mesencephalon)[11/15] -chr7 70255470 70256881 enhancer 0 + 70255470 70256881 0,128,128 enhancer VISTA enhancer hs2317 110121299|GeneID:110121299,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[6/6] | other[3/6] VISTA enhancer hs2317 | enhancer in: eye[6/6] | other[3/6] -chr7 70266848 70269110 enhancer 0 + 70266848 70269110 0,128,128 enhancer VISTA enhancer hs2318 110121300|GeneID:110121300,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[4/4] | forebrain[4/4] VISTA enhancer hs2318 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[4/4] | forebrain[4/4] -chr7 70638136 70639345 enhancer 0 + 70638136 70639345 0,128,128 enhancer VISTA enhancer hs925 110120804|GeneID:110120804,26053|GeneID:26053 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/15] | limb[8/15] VISTA enhancer hs925 | enhancer in: neural tube[8/15] | limb[8/15] -chr7 73180552 73192461 non_allelic_homologous 0 + 73180552 73192461 160,82,45 recombination_feature sub-region SSN1-SSN3, recombines with sub-region SSN1'-SSN3' within the WBS medial block B recombination region 106029311|GeneID:106029311,100093631|GeneID:100093631 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN1-SSN3, recombines with sub-region SSN1'-SSN3' within the WBS medial block B recombination region -chr7 73190165 73191199 meiotic 0 + 73190165 73191199 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 AA genotype 106029311|GeneID:106029311,100093631|GeneID:100093631 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 AA genotype -chr7 73192461 73238787 non_allelic_homologous 0 + 73192461 73238787 160,82,45 recombination_feature sub-region SSN3-SSN6, recombines with sub-region SSN3'-SSN6' within the WBS medial block B recombination region 106029311|GeneID:106029311 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN3-SSN6, recombines with sub-region SSN3'-SSN6' within the WBS medial block B recombination region -chr7 73209765 73210989 meiotic 0 + 73209765 73210989 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 AC genotype 106029311|GeneID:106029311 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 AC genotype -chr7 73238786 73243271 non_allelic_homologous 0 + 73238786 73243271 160,82,45 recombination_feature sub-region SSN6-SSN7, recombines with sub-region SSN6'-SSN7' within the WBS medial block B recombination region 106029311|GeneID:106029311 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN6-SSN7, recombines with sub-region SSN6'-SSN7' within the WBS medial block B recombination region -chr7 73243271 73249964 non_allelic_homologous 0 + 73243271 73249964 160,82,45 recombination_feature sub-region SSN7-SSN9, recombines with sub-region SSN7'-SSN9' within the WBS medial block B recombination region 106029311|GeneID:106029311 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN7-SSN9, recombines with sub-region SSN7'-SSN9' within the WBS medial block B recombination region -chr7 73249964 73279974 non_allelic_homologous 0 + 73249964 73279974 160,82,45 recombination_feature sub-region SSN9-SSN11, recombines with sub-region SSN9'-SSN11' within the WBS medial block B recombination region 106029311|GeneID:106029311 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN9-SSN11, recombines with sub-region SSN9'-SSN11' within the WBS medial block B recombination region -chr7 74452201 74452721 enhancer 0 + 74452201 74452721 0,128,128 enhancer amplified fragment containing the chr7:73866647-73867033 (GRCh37) CAGE region 108254673|GeneID:108254673 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr7:73866647-73867033 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr7 74452316 74452703 CAGE_cluster 0 + 74452316 74452703 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254673|GeneID:108254673 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr7 74733936 74745847 non_allelic_homologous 0 + 74733936 74745847 160,82,45 recombination_feature sub-region SSN1'-SSN3', recombines with sub-region SSN1-SSN3 within the WBS centromeric block B recombination region 106029312|GeneID:106029312,2969|GeneID:2969 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN1'-SSN3', recombines with sub-region SSN1-SSN3 within the WBS centromeric block B recombination region -chr7 74743548 74744586 meiotic 0 + 74743548 74744586 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 AA genotype 106029312|GeneID:106029312,2969|GeneID:2969 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 AA genotype -chr7 74745847 74792159 non_allelic_homologous 0 + 74745847 74792159 160,82,45 recombination_feature sub-region SSN3'-SSN6', recombines with sub-region SSN3-SSN6 within the WBS centromeric block B recombination region 106029312|GeneID:106029312 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN3'-SSN6', recombines with sub-region SSN3-SSN6 within the WBS centromeric block B recombination region -chr7 74763158 74764388 meiotic 0 + 74763158 74764388 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing 106029312|GeneID:106029312 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing -chr7 74792158 74796664 non_allelic_homologous 0 + 74792158 74796664 160,82,45 recombination_feature sub-region SSN6'-SSN7', recombines with sub-region SSN6-SSN7 within the WBS centromeric block B recombination region 106029312|GeneID:106029312 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN6'-SSN7', recombines with sub-region SSN6-SSN7 within the WBS centromeric block B recombination region -chr7 74796664 74803372 non_allelic_homologous 0 + 74796664 74803372 160,82,45 recombination_feature sub-region SSN7'-SSN9', recombines with sub-region SSN7-SSN9 within the WBS centromeric block B recombination region 106029312|GeneID:106029312 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN7'-SSN9', recombines with sub-region SSN7-SSN9 within the WBS centromeric block B recombination region -chr7 74803372 74832799 non_allelic_homologous 0 + 74803372 74832799 160,82,45 recombination_feature sub-region SSN9'-SSN11', recombines with sub-region SSN9-SSN11 within the WBS centromeric block B recombination region 106029312|GeneID:106029312 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN9'-SSN11', recombines with sub-region SSN9-SSN11 within the WBS centromeric block B recombination region -chr7 74832652 74869227 non_allelic_homologous 0 + 74832652 74869227 160,82,45 recombination_feature sub-region SSN11-SSN13, recombines with sub-region SSN11'-SSN13' within the WBS telomeric block B recombination region 106029312|GeneID:106029312 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN11-SSN13, recombines with sub-region SSN11'-SSN13' within the WBS telomeric block B recombination region -chr7 74839039 74839669 meiotic 0 + 74839039 74839669 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AC genotypes 106029312|GeneID:106029312 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AC genotypes -chr7 75074865 75112687 non_allelic_homologous 0 + 75074865 75112687 160,82,45 recombination_feature sub-region SSN11'-SSN13', recombines with sub-region SSN11-SSN13 within the WBS medial block B recombination region 106029313|GeneID:106029313 12796854|PMID:12796854 EXISTENCE:restriction fragment detection evidence [ECO:0001124][PMID:12796854] sub-region SSN11'-SSN13', recombines with sub-region SSN11-SSN13 within the WBS medial block B recombination region -chr7 75104669 75105821 meiotic 0 + 75104669 75105821 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AC genotypes 106029313|GeneID:106029313,389524|GeneID:389524 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AC genotypes -chr7 75442264 75442632 non_allelic_homologous 0 + 75442264 75442632 160,82,45 recombination_feature patient 6 and 8 7q11.23 proximal NAHR recombination breakpoint sub-region, recombines with the patient 6 and 8 7q11.23 distal NAHR recombination breakpoint sub-region within the 7q11.23 distal recombination region, resulting in a deletion 108228208|GeneID:108228208 21109226|PMID:21109226 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:21109226] patient 6 and 8 7q11.23 proximal NAHR recombination breakpoint sub-region, recombines with the patient 6 and 8 7q11.23 distal NAHR recombination breakpoint sub-region within the 7q11.23 distal recombination region, resulting in a deletion -chr7 76626823 76627191 non_allelic_homologous 0 + 76626823 76627191 160,82,45 recombination_feature patient 6 and 8 7q11.23 distal NAHR recombination breakpoint sub-region, recombines with the patient 6 and 8 7q11.23 proximal NAHR recombination breakpoint sub-region within the 7q11.23 proximal recombination region, resulting in a deletion 108228209|GeneID:108228209,100133091|GeneID:100133091 21109226|PMID:21109226 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:21109226] patient 6 and 8 7q11.23 distal NAHR recombination breakpoint sub-region, recombines with the patient 6 and 8 7q11.23 proximal NAHR recombination breakpoint sub-region within the 7q11.23 proximal recombination region, resulting in a deletion -chr7 82410304 82411792 enhancer 0 + 82410304 82411792 0,128,128 enhancer VISTA enhancer hs2419 110121310|GeneID:110121310 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[12/12] | limb[11/12] | branchial arch[9/12] | eye[10/12] VISTA enhancer hs2419 | enhancer in: somite[12/12] | limb[11/12] | branchial arch[9/12] | eye[10/12] -chr7 84813317 84814830 enhancer 0 + 84813317 84814830 0,128,128 enhancer VISTA enhancer hs2328 110121304|GeneID:110121304 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: eye[5/6] | nose[5/6] VISTA enhancer hs2328 | enhancer in: eye[5/6] | nose[5/6] -chr7 87876049 87876498 rep_origin: Initiation Zone I (-235 to -683 region) 0 + 87876049 87876498 0,0,0 origin_of_replication Initiation Zone I (-235 to -683 region); multiple putative sites of rightward leading strand synthesis identified by primer extension of one-way PCR of nascent strands 107057645|GeneID:107057645 18536724|PMID:18536724 EXISTENCE:primer extension assay evidence [ECO:0001819][PMID:18536724] Initiation Zone I (-235 to -683 region); multiple putative sites of rightward leading strand synthesis identified by primer extension of one-way PCR of nascent strands -chr7 87876057 87876633 rep_origin: region spanning Prom7B and Prom8 amplicons 0 + 87876057 87876633 0,0,0 origin_of_replication region spanning Prom7B and Prom8 amplicons; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107057645|GeneID:107057645 18536724|PMID:18536724 EXISTENCE:fractionation evidence [ECO:0000100][PMID:18536724] region spanning Prom7B and Prom8 amplicons; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chr7 87876132 87877132 DNase_I_hypersensitive_site 0 + 87876132 87877132 0,128,128 region the nucleotide coordinates are approximate for this feature 107057645|GeneID:107057645 18536724|PMID:18536724 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:18536724] the nucleotide coordinates are approximate for this feature -chr7 87876861 87877192 rep_origin: Initiation Zone II (+130 to +460 region) 0 + 87876861 87877192 0,0,0 origin_of_replication Initiation Zone II (+130 to +460 region); multiple putative sites of leftward leading strand synthesis identified by primer extension of one-way PCR of nascent strands 107057645|GeneID:107057645,10926|GeneID:10926 18536724|PMID:18536724 EXISTENCE:primer extension assay evidence [ECO:0001819][PMID:18536724] Initiation Zone II (+130 to +460 region); multiple putative sites of leftward leading strand synthesis identified by primer extension of one-way PCR of nascent strands -chr7 91124579 91128765 enhancer 0 + 91124579 91128765 0,128,128 enhancer VISTA enhancer hs1627 110121165|GeneID:110121165,5218|GeneID:5218 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[20/20] | forebrain[11/20] | limb[13/20] | eye[18/20] | ear[18/20] VISTA enhancer hs1627 | enhancer in: midbrain (mesencephalon)[20/20] | forebrain[11/20] | limb[13/20] | eye[18/20] | ear[18/20] -chr7 91136066 91139139 enhancer 0 + 91136066 91139139 0,128,128 enhancer VISTA enhancer hs1628 110121166|GeneID:110121166,5218|GeneID:5218 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/8] VISTA enhancer hs1628 | enhancer in: forebrain[8/8] -chr7 91147898 91151521 enhancer 0 + 91147898 91151521 0,128,128 enhancer VISTA enhancer hs1633 110121168|GeneID:110121168,5218|GeneID:5218 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/8] VISTA enhancer hs1633 | enhancer in: forebrain[8/8] -chr7 91168555 91171397 enhancer 0 + 91168555 91171397 0,128,128 enhancer VISTA enhancer hs1631 110121167|GeneID:110121167,5218|GeneID:5218 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[10/13] VISTA enhancer hs1631 | enhancer in: somite[10/13] -chr7 91294138 91296144 enhancer 0 + 91294138 91296144 0,128,128 enhancer heart enhancer 20 108004521|GeneID:108004521 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 20 | enhancer in heart -chr7 92477412 92478192 retrotransposon:LTR17 0 + 92477412 92478192 0,0,192 mobile_genetic_element long terminal repeat of endogenous retrovirus HERV17 106707174|GeneID:106707174,57798|GeneID:57798 long terminal repeat of endogenous retrovirus HERV17 -chr7 92477835 92478168 promoter 0 + 92477835 92478168 0,128,128 promoter AvrII/XhoI fragment for -148 promoter 106707174|GeneID:106707174,57798|GeneID:57798 14613893|PMID:14613893 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14613893] minimal core promoter in trophoblast cells AvrII/XhoI fragment for -148 promoter | minimal core promoter in trophoblast cells -chr7 92477874 92478235 promoter 0 + 92477874 92478235 0,128,128 promoter LTR fragment -35 to +310 106707174|GeneID:106707174,57798|GeneID:57798 14757826|PMID:14757826,15507602|PMID:15507602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14757826, PMID:15507602] LTR fragment -35 to +310 -chr7 92478044 92478064 protein_bind: POU class 2 homeobox 1 0 + 92478044 92478064 192,0,0 protein_binding_site Octwt probe 106707174|GeneID:106707174,57798|GeneID:57798 14613893|PMID:14613893 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14613893] Octwt probe | POU class 2 homeobox 1 -chr7 92478066 92478086 protein_bind: CCAAT/enhancer binding protein (C/EBP), zeta 0 + 92478066 92478086 192,0,0 protein_binding_site CBFwt probe 106707174|GeneID:106707174,57798|GeneID:57798 14613893|PMID:14613893 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14613893] CBFwt probe | CCAAT/enhancer binding protein (C/EBP), zeta -chr7 92478071 92478100 protein_bind: peroxisome proliferator-activated receptor gamma; retinoid X receptor, alpha 0 + 92478071 92478100 192,0,0 protein_binding_site PPRE-2 probe 106707174|GeneID:106707174,57798|GeneID:57798 22573555|PMID:22573555 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22573555] promotes transcription PPRE-2 probe | promotes transcription | peroxisome proliferator-activated receptor gamma; retinoid X receptor, alpha -chr7 92478165 92478310 enhancer 0 + 92478165 92478310 0,128,128 enhancer -294 to -148 fragment 106707174|GeneID:106707174,57798|GeneID:57798 15888734|PMID:15888734 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15888734] placenta-specific enhancer -294 to -148 fragment | placenta-specific enhancer -chr7 92478193 92478220 protein_bind: GATA binding proteins 2 and 3 0 + 92478193 92478220 192,0,0 protein_binding_site GATA(STN) probe 106707174|GeneID:106707174,57798|GeneID:57798 15888734|PMID:15888734 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15888734] GATA(STN) probe | GATA binding proteins 2 and 3 -chr7 92478199 92478630 enhancer 0 + 92478199 92478630 0,128,128 enhancer 436 bp upstream regulatory element (URE) 106707174|GeneID:106707174,57798|GeneID:57798 15507602|PMID:15507602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15507602] putative tissue specific, placental enhancer 436 bp upstream regulatory element (URE) | putative tissue specific, placental enhancer -chr7 92478220 92478241 protein_bind: GCMa glial cells missing homolog 1 (Drosophila) 0 + 92478220 92478241 192,0,0 protein_binding_site pGCMA 106707174|GeneID:106707174,57798|GeneID:57798 12397062|PMID:12397062 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12397062] promotes transcription in BeWo cells pGCMA | promotes transcription in BeWo cells | GCMa glial cells missing homolog 1 (Drosophila) -chr7 92478227 92478259 enhancer 0 + 92478227 92478259 0,128,128 enhancer -67 to -35 of URE 106707174|GeneID:106707174,57798|GeneID:57798 15507602|PMID:15507602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15507602] trophoblast-specific enhancer (TSE) -67 to -35 of URE | trophoblast-specific enhancer (TSE) -chr7 92478240 92478263 protein_bind: Sp1 transcription factor 0 + 92478240 92478263 192,0,0 protein_binding_site SP1 probe 106707174|GeneID:106707174,57798|GeneID:57798 15888734|PMID:15888734 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15888734] SP1 probe | Sp1 transcription factor -chr7 92478259 92478320 retrotransposon:MLT1J2 0 + 92478259 92478320 0,0,192 mobile_genetic_element long terminal repeat of retrovirus-like MaLR element 106707174|GeneID:106707174,57798|GeneID:57798 long terminal repeat of retrovirus-like MaLR element -chr7 92478259 92478321 transcriptional_cis_regulatory_region 0 + 92478259 92478321 0,128,128 region -128 to -68 of URE 106707174|GeneID:106707174,57798|GeneID:57798 15507602|PMID:15507602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15507602] negative regulatory region -128 to -68 of URE | negative regulatory region -chr7 92478321 92478630 transcriptional_cis_regulatory_region 0 + 92478321 92478630 0,128,128 region -436 to -129 of URE 106707174|GeneID:106707174,57798|GeneID:57798 15507602|PMID:15507602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15507602] positive regulatory region -436 to -129 of URE | positive regulatory region -chr7 92478391 92478406 protein_bind: tumor necrosis factor 0 + 92478391 92478406 192,0,0 protein_binding_site kB probe 106707174|GeneID:106707174,57798|GeneID:57798 17258784|PMID:17258784 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17258784] required for cytokine-stimulated activation kB probe | required for cytokine-stimulated activation | tumor necrosis factor -chr7 92478484 92478512 protein_bind: peroxisome proliferator-activated receptor gamma; retinoid X receptor, alpha 0 + 92478484 92478512 192,0,0 protein_binding_site PPRE-1 probe 106707174|GeneID:106707174,57798|GeneID:57798 22573555|PMID:22573555 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22573555] promotes transcription PPRE-1 probe | promotes transcription | peroxisome proliferator-activated receptor gamma; retinoid X receptor, alpha -chr7 92480707 92480729 protein_bind: glial cells missing homolog 1 (Drosophila) 0 + 92480707 92480729 192,0,0 protein_binding_site dGCMA 106707174|GeneID:106707174,57798|GeneID:57798 12397062|PMID:12397062 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12397062] promotes transcription in BeWo cells dGCMA | promotes transcription in BeWo cells | glial cells missing homolog 1 (Drosophila) -chr7 94346649 94349568 enhancer 0 + 94346649 94349568 0,128,128 enhancer VISTA enhancer hs1626 110121164|GeneID:110121164,107986821|GeneID:107986821 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[6/6] | facial mesenchyme[6/6] VISTA enhancer hs1626 | enhancer in: branchial arch[6/6] | facial mesenchyme[6/6] -chr7 95607309 95611146 enhancer 0 + 95607309 95611146 0,128,128 enhancer VISTA enhancer hs1831 110121212|GeneID:110121212,107986824|GeneID:107986824 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[10/15] | other[11/15] VISTA enhancer hs1831 | enhancer in: heart[10/15] | other[11/15] -chr7 96075776 96076384 enhancer 0 + 96075776 96076384 0,128,128 enhancer VISTA enhancer hs2308 110121292|GeneID:110121292,1780|GeneID:1780 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[8/8] | genital tubercle[4/8] VISTA enhancer hs2308 | enhancer in: limb[8/8] | genital tubercle[4/8] -chr7 96096966 96098368 enhancer 0 + 96096966 96098368 0,128,128 enhancer VISTA enhancer hs2309 110121293|GeneID:110121293,1780|GeneID:1780 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/3] VISTA enhancer hs2309 | enhancer in: limb[3/3] -chr7 96136567 96137161 enhancer 0 + 96136567 96137161 0,128,128 enhancer VISTA enhancer hs2313 110121296|GeneID:110121296 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[2/2] | limb[2/2] | branchial arch[2/2] | ear[2/2] VISTA enhancer hs2313 | enhancer in: forebrain[2/2] | limb[2/2] | branchial arch[2/2] | ear[2/2] -chr7 96245534 96248789 enhancer 0 + 96245534 96248789 0,128,128 enhancer VISTA enhancer hs1642 110121172|GeneID:110121172 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | forebrain[8/8] VISTA enhancer hs1642 | enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | forebrain[8/8] -chr7 96446092 96446679 enhancer 0 + 96446092 96446679 0,128,128 enhancer VISTA enhancer hs2312 110121295|GeneID:110121295 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[3/3] VISTA enhancer hs2312 | enhancer in: branchial arch[3/3] -chr7 96495605 96496103 enhancer 0 + 96495605 96496103 0,128,128 enhancer VISTA enhancer hs2311 110121294|GeneID:110121294,105375411|GeneID:105375411 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[8/11] VISTA enhancer hs2311 | enhancer in: branchial arch[8/11] -chr7 97004269 97004991 enhancer 0 + 97004269 97004991 0,128,128 enhancer VISTA enhancer hs298 110120653|GeneID:110120653 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/6] VISTA enhancer hs298 | enhancer in: midbrain (mesencephalon)[3/6] -chr7 99763630 99763911 enhancer 0 + 99763630 99763911 0,128,128 enhancer intron 10 fragment containing CYP3A4*1G SNP (rs2242480) 110366355|GeneID:110366355 21199372|PMID:21199372,25997547|PMID:25997547 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21199372, PMID:25997547] intron 10 fragment containing CYP3A4*1G SNP (rs2242480) -chr7 99763768 99763854 conserved_region 0 + 99763768 99763854 192,0,192 sequence_feature conserved region; intron 10 110366355|GeneID:110366355 25997547|PMID:25997547 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:25997547] conserved region; intron 10 -chr7 99784131 99784546 promoter 0 + 99784131 99784546 0,128,128 promoter -362 to +53 basal promoter 110366354|GeneID:110366354 10570062|PMID:10570062 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10570062] -362 to +53 basal promoter -chr7 99784131 99785436 promoter 0 + 99784131 99785436 0,128,128 promoter -1.2 kb to +53 promoter 110366354|GeneID:110366354 10570062|PMID:10570062 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10570062] -1.2 kb to +53 promoter -chr7 99784133 99796700 promoter 0 + 99784133 99796700 0,128,128 promoter 12.5 kb construct based on reported coordinates on AF280107 (PMID:17344340) 110366354|GeneID:110366354 17344340|PMID:17344340 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17344340] drives expression of transgene in liver, small intestine, and kidney 12.5 kb construct based on reported coordinates on AF280107 (PMID:17344340) | drives expression of transgene in liver, small intestine, and kidney -chr7 99784178 99786027 promoter 0 + 99784178 99786027 0,128,128 promoter -1843 to +6 promoter fragment 110366354|GeneID:110366354 12695546|PMID:12695546 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12695546] -1843 to +6 promoter fragment -chr7 99784216 99784241 protein_bind: basic helix-loop-helix family member e40 0 + 99784216 99784241 192,0,0 protein_binding_site DEC site 110366354|GeneID:110366354 22728071|PMID:22728071 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22728071] mediates downregulation by interleukin 6 DEC site | mediates downregulation by interleukin 6 | basic helix-loop-helix family member e40 -chr7 99784254 99784312 protein_bind: YY1 transcription factor 0 + 99784254 99784312 192,0,0 protein_binding_site 57 nt element 110366354|GeneID:110366354 22292071|PMID:22292071 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22292071] 57 nt element | YY1 transcription factor -chr7 99784254 99784312 silencer 0 + 99784254 99784312 0,128,128 silencer 57 nt difference between CYP3A4 and CYP3A5 containing two E-box motifs and CCAAT box 110366354|GeneID:110366354 17548528|PMID:17548528 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17548528] negatively regulates promoter activity 57 nt difference between CYP3A4 and CYP3A5 containing two E-box motifs and CCAAT box | negatively regulates promoter activity -chr7 99784274 99784292 protein_bind: Sp1 transcription factor 0 + 99784274 99784292 192,0,0 protein_binding_site Sp1 site 110366354|GeneID:110366354 15100175|PMID:15100175 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15100175] mediates activation of promoter by xenobiotics Sp1 site | mediates activation of promoter by xenobiotics | Sp1 transcription factor -chr7 99784300 99784320 protein_bind: CCAAT/enhancer binding protein alpha and beta 0 + 99784300 99784320 192,0,0 protein_binding_site C/EBP site 110366354|GeneID:110366354 12695546|PMID:12695546,15100175|PMID:15100175 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12695546, PMID:15100175] positive regulation of promoter activity C/EBP site | positive regulation of promoter activity | CCAAT/enhancer binding protein alpha and beta -chr7 99784300 99784324 protein_bind: nuclear factor I 0 + 99784300 99784324 192,0,0 protein_binding_site -243 to -220 NFI site 110366354|GeneID:110366354 19706729|PMID:19706729 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19706729] -243 to -220 NFI site | nuclear factor I -chr7 99784329 99784360 protein_bind: vitamin D receptor; retinoid X receptor 0 + 99784329 99784360 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 11991950|PMID:11991950,15578590|PMID:15578590 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11991950, PMID:15578590] pER6 | vitamin D receptor; retinoid X receptor -chr7 99784332 99784356 enhancer 0 + 99784332 99784356 0,128,128 enhancer ER6, also known as pPXRE (xenobiotic response element) 110366354|GeneID:110366354 9727070|PMID:9727070 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9727070] functions as an enhancer when multimerized; mediates activation by Nr1i2/Pxr, glucocorticoids, and vitamin D ER6, also known as pPXRE (xenobiotic response element) | functions as an enhancer when multimerized; mediates activation by Nr1i2/Pxr, glucocorticoids, and vitamin D -chr7 99784332 99784356 protein_bind: nuclear receptor subfamily 1 group H member 3 0 + 99784332 99784356 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20171174] pER6 | nuclear receptor subfamily 1 group H member 3 -chr7 99784332 99784356 protein_bind: nuclear receptor subfamily 1 group H member 4 0 + 99784332 99784356 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20171174] pER6 | nuclear receptor subfamily 1 group H member 4 -chr7 99784332 99784356 protein_bind: nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha 0 + 99784332 99784356 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 9727070|PMID:9727070 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9727070] mediates positive regulation of promoter activity by xenobiotics pER6 | mediates positive regulation of promoter activity by xenobiotics | nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha -chr7 99784332 99784356 protein_bind: nuclear receptor subfamily 1 group I member 3; retinoid X receptor alpha 0 + 99784332 99784356 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 10037683|PMID:10037683 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10037683] mediates positive regulation of promoter activity by xenobiotics pER6 | mediates positive regulation of promoter activity by xenobiotics | nuclear receptor subfamily 1 group I member 3; retinoid X receptor alpha -chr7 99784332 99784356 protein_bind: nuclear receptor subfamily 2 group F members 1 and 2; retinoid X receptor alpha 0 + 99784332 99784356 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 15499176|PMID:15499176,20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15499176, PMID:20171174] may antagonize induction of promoter activity by Nr1i2/Pxr pER6 | may antagonize induction of promoter activity by Nr1i2/Pxr | nuclear receptor subfamily 2 group F members 1 and 2; retinoid X receptor alpha -chr7 99784332 99784356 protein_bind: thyroid hormone receptor, alpha and beta 0 + 99784332 99784356 192,0,0 protein_binding_site pER6 110366354|GeneID:110366354 20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20171174] may antagonize induction of promoter activity by Nr1i2/Pxr pER6 | may antagonize induction of promoter activity by Nr1i2/Pxr | thyroid hormone receptor, alpha and beta -chr7 99784338 99784343 protein_bind: Kruppel like factor 11 0 + 99784338 99784343 192,0,0 protein_binding_site KLF11 site A1 110366354|GeneID:110366354 25076120|PMID:25076120 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25076120] KLF11 site A1 | Kruppel like factor 11 -chr7 99784364 99784384 protein_bind: forkhead box A proteins 0 + 99784364 99784384 192,0,0 protein_binding_site HNF3 site 110366354|GeneID:110366354 15100175|PMID:15100175 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15100175] mediates activation of promoter by xenobiotics HNF3 site | mediates activation of promoter by xenobiotics | forkhead box A proteins -chr7 99784393 99784399 protein_bind: Kruppel like factor 11 0 + 99784393 99784399 192,0,0 protein_binding_site KLF11 site A2 110366354|GeneID:110366354 25076120|PMID:25076120 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25076120] KLF11 site A2 | Kruppel like factor 11 -chr7 99784394 99784421 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 99784394 99784421 192,0,0 protein_binding_site -237 to -211 DR1 110366354|GeneID:110366354 17344340|PMID:17344340 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17344340] -237 to -211 DR1 | hepatocyte nuclear factor 4 alpha -chr7 99784464 99784473 protein_bind: Kruppel like factor 11 0 + 99784464 99784473 192,0,0 protein_binding_site KLF11 site B1 110366354|GeneID:110366354 25076120|PMID:25076120 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25076120] KLF11 site B1 | Kruppel like factor 11 -chr7 99784744 99784750 protein_bind: Kruppel like factor 11 0 + 99784744 99784750 192,0,0 protein_binding_site KLF11 site C2 110366354|GeneID:110366354 25076120|PMID:25076120 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25076120] KLF11 site C2 | Kruppel like factor 11 -chr7 99787072 99787085 protein_bind: peroxisome proliferator activated receptor alpha; retinoid X receptor alpha 0 + 99787072 99787085 192,0,0 protein_binding_site DR1-A 110366354|GeneID:110366354 23295386|PMID:23295386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23295386] DR1-A | peroxisome proliferator activated receptor alpha; retinoid X receptor alpha -chr7 99787219 99787232 protein_bind: peroxisome proliferator activated receptor alpha; retinoid X receptor alpha 0 + 99787219 99787232 192,0,0 protein_binding_site DR1-B 110366354|GeneID:110366354 23295386|PMID:23295386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23295386] positive regulation of promoter activity DR1-B | positive regulation of promoter activity | peroxisome proliferator activated receptor alpha; retinoid X receptor alpha -chr7 99789865 99790149 enhancer 0 + 99789865 99790149 0,128,128 enhancer -5950 to -5663 enhancer fragment 110366354|GeneID:110366354 15778453|PMID:15778453 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15778453] CCAAT/enhancer binding protein-responsive enhancer -5950 to -5663 enhancer fragment | CCAAT/enhancer binding protein-responsive enhancer -chr7 99790207 99792006 enhancer 0 + 99790207 99792006 0,128,128 enhancer XREM (xenobiotic responsive element module), also known as DE (distal enhancer); -7.8 kb to -6.0 kb; XbaI/BglII fragment 110366354|GeneID:110366354 10570062|PMID:10570062 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10570062] XREM (xenobiotic responsive element module), also known as DE (distal enhancer); -7.8 kb to -6.0 kb; XbaI/BglII fragment -chr7 99791439 99791460 transcriptional_cis_regulatory_region 0 + 99791439 99791460 0,128,128 region dNR3 110366354|GeneID:110366354 10570062|PMID:10570062 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:10570062] contributes to enhancer activity dNR3 | contributes to enhancer activity -chr7 99791769 99791791 protein_bind: nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha 0 + 99791769 99791791 192,0,0 protein_binding_site eNR3A4 110366354|GeneID:110366354 19074998|PMID:19074998 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19074998] mediates induction by rifampicin eNR3A4 | mediates induction by rifampicin | nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha -chr7 99791841 99791859 protein_bind: nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha 0 + 99791841 99791859 192,0,0 protein_binding_site dNR2 110366354|GeneID:110366354 10570062|PMID:10570062 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10570062] promotes enhancer activity dNR2 | promotes enhancer activity | nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha -chr7 99791885 99791906 protein_bind: vitamin D receptor; retinoid X receptor 0 + 99791885 99791906 192,0,0 protein_binding_site 5' dDR3 110366354|GeneID:110366354 11991950|PMID:11991950 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11991950] mediates response to vitamin D 5' dDR3 | mediates response to vitamin D | vitamin D receptor; retinoid X receptor -chr7 99791888 99791903 enhancer 0 + 99791888 99791903 0,128,128 enhancer dDR3; dNR1 110366354|GeneID:110366354 11723248|PMID:11723248 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11723248] can function as a vitamin D-induced enhancer when multimerized dDR3; dNR1 | can function as a vitamin D-induced enhancer when multimerized -chr7 99791888 99791903 protein_bind: nuclear receptor subfamily 1 group H member 3 0 + 99791888 99791903 192,0,0 protein_binding_site dDR3/dNR1 110366354|GeneID:110366354 20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20171174] dDR3/dNR1 | nuclear receptor subfamily 1 group H member 3 -chr7 99791888 99791903 protein_bind: nuclear receptor subfamily 1 group H member 4 0 + 99791888 99791903 192,0,0 protein_binding_site dDR3/dNR1 110366354|GeneID:110366354 20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20171174] dDR3/dNR1 | nuclear receptor subfamily 1 group H member 4 -chr7 99791888 99791903 protein_bind: nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha 0 + 99791888 99791903 192,0,0 protein_binding_site dNR1 110366354|GeneID:110366354 10570062|PMID:10570062 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10570062] promotes enhancer activity dNR1 | promotes enhancer activity | nuclear receptor subfamily 1 group I member 2; retinoid X receptor alpha -chr7 99791888 99791903 protein_bind: nuclear receptor subfamily 1 group I member 3 0 + 99791888 99791903 192,0,0 protein_binding_site dNR1 110366354|GeneID:110366354 16513849|PMID:16513849 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16513849] dNR1 | nuclear receptor subfamily 1 group I member 3 -chr7 99791888 99791903 protein_bind: nuclear receptor subfamily 2 group F members 1 and 2 0 + 99791888 99791903 192,0,0 protein_binding_site dNR1 110366354|GeneID:110366354 15499176|PMID:15499176,20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15499176, PMID:20171174] dNR1 | nuclear receptor subfamily 2 group F members 1 and 2 -chr7 99791888 99791903 protein_bind: thyroid hormone receptor, alpha and beta 0 + 99791888 99791903 192,0,0 protein_binding_site dDR3/dNR1 110366354|GeneID:110366354 20171174|PMID:20171174 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20171174] dDR3/dNR1 | thyroid hormone receptor, alpha and beta -chr7 99791933 99791954 protein_bind: peroxisome proliferator activated receptor alpha; retinoid X receptor alpha 0 + 99791933 99791954 192,0,0 protein_binding_site DR1/DR2-C 110366354|GeneID:110366354 23295386|PMID:23295386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23295386] positive regulation of promoter activity DR1/DR2-C | positive regulation of promoter activity | peroxisome proliferator activated receptor alpha; retinoid X receptor alpha -chr7 99791933 99791963 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 99791933 99791963 192,0,0 protein_binding_site HNF4 alpha site 110366354|GeneID:110366354 12514743|PMID:12514743 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12514743] mediates induction by Nr1i2/Pxr HNF4 alpha site | mediates induction by Nr1i2/Pxr | hepatocyte nuclear factor 4 alpha -chr7 99792973 99792986 protein_bind: peroxisome proliferator activated receptor alpha; retinoid X receptor alpha 0 + 99792973 99792986 192,0,0 protein_binding_site DR1-D 110366354|GeneID:110366354 23295386|PMID:23295386 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23295386] positive regulation of promoter activity DR1-D | positive regulation of promoter activity | peroxisome proliferator activated receptor alpha; retinoid X receptor alpha -chr7 99793007 99794637 enhancer 0 + 99793007 99794637 0,128,128 enhancer -10.5 kb to -8.8 kb intestinal enhancer 110366354|GeneID:110366354 17344340|PMID:17344340 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17344340] -10.5 kb to -8.8 kb intestinal enhancer -chr7 99793198 99793218 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 99793198 99793218 192,0,0 protein_binding_site DR1(III) 110366354|GeneID:110366354 17344340|PMID:17344340 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17344340] positive regulation of enhancer activity DR1(III) | positive regulation of enhancer activity | hepatocyte nuclear factor 4 alpha -chr7 99793198 99793218 protein_bind: nuclear receptor subfamily 2 group F member 2 0 + 99793198 99793218 192,0,0 protein_binding_site DR1(III) 110366354|GeneID:110366354 17344340|PMID:17344340 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17344340] DR1(III) | nuclear receptor subfamily 2 group F member 2 -chr7 99794637 99795563 enhancer 0 + 99794637 99795563 0,128,128 enhancer CLEM (constitutive liver enhancer module of CYP3A4); -11.4 kb to -10.5 kb 110366354|GeneID:110366354 14742674|PMID:14742674 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:14742674] CLEM (constitutive liver enhancer module of CYP3A4); -11.4 kb to -10.5 kb -chr7 99795135 99795161 protein_bind: upstream transcription factor 1 0 + 99795135 99795161 192,0,0 protein_binding_site G:E-box 110366354|GeneID:110366354 14742674|PMID:14742674 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14742674] positive regulation of enhancer activity G:E-box | positive regulation of enhancer activity | upstream transcription factor 1 -chr7 99795186 99795212 protein_bind: Jun proto-oncogene, AP-1 transcription factor subunit 0 + 99795186 99795212 192,0,0 protein_binding_site F:CRE 110366354|GeneID:110366354 14742674|PMID:14742674 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14742674] positive regulation of enhancer activity F:CRE | positive regulation of enhancer activity | Jun proto-oncogene, AP-1 transcription factor subunit -chr7 99795316 99795342 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 99795316 99795342 192,0,0 protein_binding_site C:HNF-4 site 110366354|GeneID:110366354 14742674|PMID:14742674 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14742674] positive regulation of enhancer activity C:HNF-4 site | positive regulation of enhancer activity | hepatocyte nuclear factor 4 alpha -chr7 99795481 99795506 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 99795481 99795506 192,0,0 protein_binding_site B:HNF-1 site 110366354|GeneID:110366354 14742674|PMID:14742674 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14742674] positive regulation of enhancer activity B:HNF-1 site | positive regulation of enhancer activity | hepatocyte nuclear factor 4 alpha -chr7 99795500 99795527 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 99795500 99795527 192,0,0 protein_binding_site A:HNF-4 site 110366354|GeneID:110366354 14742674|PMID:14742674 EXISTENCE:protein binding evidence [ECO:0000024][PMID:14742674] A:HNF-4 site | hepatocyte nuclear factor 4 alpha -chr7 99795514 99795543 protein_bind: nuclear receptor subfamily 1 group I member 2 0 + 99795514 99795543 192,0,0 protein_binding_site F-ER6 110366354|GeneID:110366354 17764444|PMID:17764444 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17764444] promotes enhancer activity; antagonized by hepatocyte nuclear factor 4 alpha F-ER6 | promotes enhancer activity; antagonized by hepatocyte nuclear factor 4 alpha | nuclear receptor subfamily 1 group I member 2 -chr7 99795514 99795543 protein_bind: vitamin D receptor; retinoid X receptor alpha 0 + 99795514 99795543 192,0,0 protein_binding_site ER6 (CLEM) 110366354|GeneID:110366354 19712670|PMID:19712670 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19712670] contributes to induction by vitamin D ER6 (CLEM) | contributes to induction by vitamin D | vitamin D receptor; retinoid X receptor alpha -chr7 107946716 107948447 enhancer 0 + 107946716 107948447 0,128,128 enhancer VISTA enhancer hs2081 110121254|GeneID:110121254 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[4/9] | limb[5/9] | trigeminal V (ganglion, cranial)[6/9] | cranial nerve[5/9] VISTA enhancer hs2081 | enhancer in: dorsal root ganglion[4/9] | limb[5/9] | trigeminal V (ganglion, cranial)[6/9] | cranial nerve[5/9] -chr7 114153489 114154507 enhancer 0 + 114153489 114154507 0,128,128 enhancer VISTA enhancer hs720 110120753|GeneID:110120753,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/7] VISTA enhancer hs720 | enhancer in: midbrain (mesencephalon)[5/7] -chr7 114416791 114418592 enhancer 0 + 114416791 114418592 0,128,128 enhancer VISTA enhancer hs218 110120618|GeneID:110120618,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/7] VISTA enhancer hs218 | enhancer in: forebrain[5/7] -chr7 114502076 114503472 enhancer 0 + 114502076 114503472 0,128,128 enhancer VISTA enhancer hs999 110120822|GeneID:110120822,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] | facial mesenchyme[4/6] VISTA enhancer hs999 | enhancer in: midbrain (mesencephalon)[4/6] | facial mesenchyme[4/6] -chr7 114621017 114623034 enhancer 0 + 114621017 114623034 0,128,128 enhancer VISTA enhancer hs1080 110120983|GeneID:110120983,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[3/5] VISTA enhancer hs1080 | enhancer in: ear[3/5] -chr7 114655053 114656318 enhancer 0 + 114655053 114656318 0,128,128 enhancer VISTA enhancer hs222 110120619|GeneID:110120619,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[3/6] VISTA enhancer hs222 | enhancer in: heart[3/6] -chr7 114659655 114662023 enhancer 0 + 114659655 114662023 0,128,128 enhancer VISTA enhancer hs956 110120810|GeneID:110120810,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/7] | forebrain[6/7] VISTA enhancer hs956 | enhancer in: midbrain (mesencephalon)[3/7] | forebrain[6/7] -chr7 114686856 114689717 enhancer 0 + 114686856 114689717 0,128,128 enhancer VISTA enhancer hs966 110120813|GeneID:110120813,93986|GeneID:93986 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/11] VISTA enhancer hs966 | enhancer in: hindbrain (rhombencephalon)[6/11] -chr7 114823741 114824407 enhancer 0 + 114823741 114824407 0,128,128 enhancer VISTA enhancer hs1192 110121022|GeneID:110121022 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[3/5] VISTA enhancer hs1192 | enhancer in: hindbrain (rhombencephalon)[5/5] | midbrain (mesencephalon)[3/5] -chr7 115811476 115814742 enhancer 0 + 115811476 115814742 0,128,128 enhancer VISTA enhancer hs1798 110121207|GeneID:110121207 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/9] | hindbrain (rhombencephalon)[6/9] | midbrain (mesencephalon)[6/9] | forebrain[9/9] | eye[6/9] VISTA enhancer hs1798 | enhancer in: neural tube[6/9] | hindbrain (rhombencephalon)[6/9] | midbrain (mesencephalon)[6/9] | forebrain[9/9] | eye[6/9] -chr7 116353608 116357055 enhancer 0 + 116353608 116357055 0,128,128 enhancer VISTA enhancer hs2071 110121252|GeneID:110121252 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[6/9] VISTA enhancer hs2071 | enhancer in: other[6/9] -chr7 117715345 117716425 enhancer_blocking_element 0 + 117715345 117716425 0,128,128 insulator candidate insulator 7-1-1; CTCF association and DNase I hypersensitivity in multiple cell types 108491823|GeneID:108491823 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 7-1-1; CTCF association and DNase I hypersensitivity in multiple cell types | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr7 122327473 122331024 enhancer 0 + 122327473 122331024 0,128,128 enhancer VISTA enhancer hs1809 110121210|GeneID:110121210 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] | forebrain[9/9] VISTA enhancer hs1809 | enhancer in: neural tube[5/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] | forebrain[9/9] -chr7 127534331 127537492 enhancer 0 + 127534331 127537492 0,128,128 enhancer VISTA enhancer hs1308 110121049|GeneID:110121049 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/7] | forebrain[7/7] VISTA enhancer hs1308 | enhancer in: midbrain (mesencephalon)[7/7] | forebrain[7/7] -chr7 127618058 127623016 promoter 0 + 127618058 127623016 0,128,128 promoter -4958 to +46 promoter fragment 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10967107] -4958 to +46 promoter fragment -chr7 127619963 127619990 protein_bind: pancreatic and duodenal homeobox 1 0 + 127619963 127619990 192,0,0 protein_binding_site TAAT 3/4 probe 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10967107] TAAT 3/4 probe | pancreatic and duodenal homeobox 1 -chr7 127620014 127620061 enhancer 0 + 127620014 127620061 0,128,128 enhancer -1960 to -1909 fragment for pancreatic enhancer 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:knockout evidence [ECO:0001091][PMID:10967107] enhancer in pancreas -1960 to -1909 fragment for pancreatic enhancer | enhancer in pancreas -chr7 127620027 127620051 protein_bind: HNF1 homeobox A 0 + 127620027 127620051 192,0,0 protein_binding_site TAAT 1/2 probe 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10967107] TAAT 1/2 probe | HNF1 homeobox A -chr7 127620027 127620051 protein_bind: pancreatic and duodenal homeobox 1 0 + 127620027 127620051 192,0,0 protein_binding_site TAAT 1/2 probe 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10967107] TAAT 1/2 probe | pancreatic and duodenal homeobox 1 -chr7 127620041 127620062 protein_bind: hepatocyte nuclear factor 4 alpha 0 + 127620041 127620062 192,0,0 protein_binding_site H4 probe 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10967107] H4 probe | hepatocyte nuclear factor 4 alpha -chr7 127622220 127622267 protein_bind: paired box 4 0 + 127622220 127622267 192,0,0 protein_binding_site P4.2 probe 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10967107] P4.2 probe | paired box 4 -chr7 127622687 127622732 protein_bind: paired box 4 0 + 127622687 127622732 192,0,0 protein_binding_site P4.1 probe 108251801|GeneID:108251801 10967107|PMID:10967107 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10967107] P4.1 probe | paired box 4 -chr7 128238355 128241306 promoter 0 + 128238355 128241306 0,128,128 promoter -2.9kb/HindIII to +30 promoter fragment 106728418|GeneID:106728418 8643605|PMID:8643605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8643605] -2.9kb/HindIII to +30 promoter fragment -chr7 128238722 128238756 protein_bind: Sp1 transcription factor 0 + 128238722 128238756 192,0,0 protein_binding_site -2548 SNP probe; binding preferred on AA genotype at rs7799039 106728418|GeneID:106728418 19408304|PMID:19408304 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19408304] mediates response to insulin -2548 SNP probe; binding preferred on AA genotype at rs7799039 | mediates response to insulin | Sp1 transcription factor -chr7 128238821 128239737 retrotransposon:MER11A 0 + 128238821 128239737 0,0,192 mobile_genetic_element LTR from HERVK-related endogenous retrovirus HERVK11 106728418|GeneID:106728418 LTR from HERVK-related endogenous retrovirus HERVK11 -chr7 128239326 128239732 enhancer 0 + 128239326 128239732 0,128,128 enhancer -1951 to -1546 106728418|GeneID:106728418 9374555|PMID:9374555 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9374555] enhancer in JEG-3 and JAR choriocarcinoma cells -1951 to -1546 | enhancer in JEG-3 and JAR choriocarcinoma cells -chr7 128239326 128239732 transcriptional_cis_regulatory_region 0 + 128239326 128239732 0,128,128 region -1951 to -1546 106728418|GeneID:106728418 23718986|PMID:23718986 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:23718986] mediates response to insulin to promote transcription -1951 to -1546 | mediates response to insulin to promote transcription -chr7 128239327 128239351 protein_bind: glial cells missing homolog 1 0 + 128239327 128239351 192,0,0 protein_binding_site PLE1 106728418|GeneID:106728418 10542267|PMID:10542267 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10542267] PLE1 | glial cells missing homolog 1 -chr7 128239331 128239391 enhancer 0 + 128239331 128239391 0,128,128 enhancer 60 bp core enhancer 106728418|GeneID:106728418 9374555|PMID:9374555 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9374555] enhancer in JEG-3 and JAR choriocarcinoma cells 60 bp core enhancer | enhancer in JEG-3 and JAR choriocarcinoma cells -chr7 128239348 128239384 protein_bind: Sp1 transcription factor 0 + 128239348 128239384 192,0,0 protein_binding_site PLE2 106728418|GeneID:106728418 9374555|PMID:9374555 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9374555] PLE2 | Sp1 transcription factor -chr7 128239368 128239404 enhancer 0 + 128239368 128239404 0,128,128 enhancer PLE3 106728418|GeneID:106728418 9374555|PMID:9374555 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9374555] enhancer in JEG-3 and JAR choriocarcinoma cells PLE3 | enhancer in JEG-3 and JAR choriocarcinoma cells -chr7 128239735 128239765 protein_bind: hypoxia inducible factor 1 alpha subunit 0 + 128239735 128239765 192,0,0 protein_binding_site HRE-3 106728418|GeneID:106728418 17653093|PMID:17653093 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17653093] HRE-3 | hypoxia inducible factor 1 alpha subunit -chr7 128240635 128240665 protein_bind: hypoxia inducible factor 1 alpha subunit 0 + 128240635 128240665 192,0,0 protein_binding_site HRE-2 106728418|GeneID:106728418 17653093|PMID:17653093 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17653093] HRE-2 | hypoxia inducible factor 1 alpha subunit -chr7 128241059 128241306 promoter 0 + 128241059 128241306 0,128,128 promoter -217/KpnI to +30 promoter 106728418|GeneID:106728418 8643605|PMID:8643605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8643605] -217/KpnI to +30 promoter -chr7 128241148 128241172 protein_bind: hypoxia inducible factor 1 alpha subunit; aryl hydrocarbon receptor nuclear translocator 0 + 128241148 128241172 192,0,0 protein_binding_site HRE-1 (-116 HRE); HIF1alpha/beta site 106728418|GeneID:106728418 12084725|PMID:12084725,12215445|PMID:12215445 EXISTENCE:protein binding evidence [ECO:0000024][PMID:12084725, PMID:12215445] mediates response to hypoxia to promote transcription HRE-1 (-116 HRE); HIF1alpha/beta site | mediates response to hypoxia to promote transcription | hypoxia inducible factor 1 alpha subunit; aryl hydrocarbon receptor nuclear translocator -chr7 128241223 128241232 transcriptional_cis_regulatory_region 0 + 128241223 128241232 0,128,128 region CEBP site 106728418|GeneID:106728418,3952|GeneID:3952 8643605|PMID:8643605 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8643605] responds to Cebpa to positively regulate transcription CEBP site | responds to Cebpa to positively regulate transcription -chr7 128241247 128241252 TATA_box 0 + 128241247 128241252 0,128,128 TATA_box 106728418|GeneID:106728418,3952|GeneID:3952 8643605|PMID:8643605 COORDINATES:motif similarity evidence [ECO:0000028][PMID:8643605] TATA_box -chr7 128775779 128776347 transcriptional_cis_regulatory_region 0 + 128775779 128776347 0,128,128 region HB569 fragment in AAV vector transgene in rat or dog; includes the OPN1SW basal promoter 107980434|GeneID:107980434 16877422|PMID:16877422,18337838|PMID:18337838 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16877422, PMID:18337838] blue cone and bipolar cell expression of OPN1SW HB569 fragment in AAV vector transgene in rat or dog; includes the OPN1SW basal promoter | blue cone and bipolar cell expression of OPN1SW -chr7 128775787 128776782 transcriptional_cis_regulatory_region 0 + 128775787 128776782 0,128,128 region HB996 fragment in AAV vector transgene in rat; includes the OPN1SW basal promoter 107980434|GeneID:107980434 16877422|PMID:16877422 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16877422] blue cone and bipolar cell expression of OPN1SW HB996 fragment in AAV vector transgene in rat; includes the OPN1SW basal promoter | blue cone and bipolar cell expression of OPN1SW -chr7 128775790 128776260 transcriptional_cis_regulatory_region 0 + 128775790 128776260 0,128,128 region hB-0.47lacZ transgene in mouse; includes the OPN1SW basal promoter 107980434|GeneID:107980434 8207464|PMID:8207464 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8207464] blue cone and bipolar cell expression of OPN1SW hB-0.47lacZ transgene in mouse; includes the OPN1SW basal promoter | blue cone and bipolar cell expression of OPN1SW -chr7 128775790 128776890 transcriptional_cis_regulatory_region 0 + 128775790 128776890 0,128,128 region 1.1 kb blue opsin/lacZ transgene in mouse; includes the OPN1SW basal promoter 107980434|GeneID:107980434 8146162|PMID:8146162 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8146162] blue cone and bipolar cell expression of OPN1SW 1.1 kb blue opsin/lacZ transgene in mouse; includes the OPN1SW basal promoter | blue cone and bipolar cell expression of OPN1SW -chr7 128775790 128779590 transcriptional_cis_regulatory_region 0 + 128775790 128779590 0,128,128 region 3.8 kb blue opsin/lacZ transgene in mouse; includes the OPN1SW basal promoter 107980434|GeneID:107980434 8146162|PMID:8146162 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8146162] blue cone and bipolar cell expression of OPN1SW 3.8 kb blue opsin/lacZ transgene in mouse; includes the OPN1SW basal promoter | blue cone and bipolar cell expression of OPN1SW -chr7 128775790 128781201 transcriptional_cis_regulatory_region 0 + 128775790 128781201 0,128,128 region hB-5.4lacZ transgene in mouse; includes the OPN1SW basal promoter 107980434|GeneID:107980434 8207464|PMID:8207464 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:8207464] blue cone and bipolar cell expression of OPN1SW hB-5.4lacZ transgene in mouse; includes the OPN1SW basal promoter | blue cone and bipolar cell expression of OPN1SW -chr7 128775988 128776010 response_element 0 + 128775988 128776010 0,128,128 regulatory_region conserved RORE2 site; the orthologous mouse site is required for transgene activation in vivo and acts in synergy with retinal cone-rod homeobox factor (CRX) 107980434|GeneID:107980434 16574740|PMID:16574740 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:16574740] OPN1SW promoter activation in response to retinoid-related orphan receptor binding conserved RORE2 site; the orthologous mouse site is required for transgene activation in vivo and acts in synergy with retinal cone-rod homeobox factor (CRX) | OPN1SW promoter activation in response to retinoid-related orphan receptor binding -chr7 128776066 128776088 response_element 0 + 128776066 128776088 0,128,128 regulatory_region conserved RORE1 site; the orthologous mouse site is required for transgene activation in vivo and acts in synergy with retinal cone-rod homeobox factor (CRX) 107980434|GeneID:107980434 16574740|PMID:16574740 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:16574740] OPN1SW promoter activation in response to retinoid-related orphan receptor binding conserved RORE1 site; the orthologous mouse site is required for transgene activation in vivo and acts in synergy with retinal cone-rod homeobox factor (CRX) | OPN1SW promoter activation in response to retinoid-related orphan receptor binding -chr7 131111171 131111713 enhancer 0 + 131111171 131111713 0,128,128 enhancer amplified fragment containing the chr7:130795999-130796263 (GRCh37) CAGE region 108281155|GeneID:108281155,4289|GeneID:4289 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HeLa cells amplified fragment containing the chr7:130795999-130796263 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HeLa cells -chr7 131111239 131111504 CAGE_cluster 0 + 131111239 131111504 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281155|GeneID:108281155,4289|GeneID:4289 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr7 136057879 136060968 enhancer 0 + 136057879 136060968 0,128,128 enhancer VISTA enhancer hs2077 110121253|GeneID:110121253,105375523|GeneID:105375523 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: ear[5/9] VISTA enhancer hs2077 | enhancer in: ear[5/9] -chr7 140210787 140214447 enhancer 0 + 140210787 140214447 0,128,128 enhancer VISTA enhancer hs2082 110121255|GeneID:110121255 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[3/7] | trigeminal V (ganglion, cranial)[3/7] VISTA enhancer hs2082 | enhancer in: dorsal root ganglion[3/7] | trigeminal V (ganglion, cranial)[3/7] -chr7 142299460 142299467 misc_recomb: TRBV1 0 + 142299460 142299467 160,82,45 recombination_feature RSS_heptamer 28621|GeneID:28621 RSS_heptamer -chr7 142299467 142299490 misc_recomb: TRBV1 0 + 142299467 142299490 160,82,45 recombination_feature RSS_spacer 28621|GeneID:28621 RSS_spacer -chr7 142299490 142299499 misc_recomb: TRBV1 0 + 142299490 142299499 160,82,45 recombination_feature RSS_nonamer 28621|GeneID:28621 RSS_nonamer -chr7 142301432 142301439 misc_recomb: TRBV2 0 + 142301432 142301439 160,82,45 recombination_feature RSS_heptamer 28620|GeneID:28620 RSS_heptamer -chr7 142301439 142301462 misc_recomb: TRBV2 0 + 142301439 142301462 160,82,45 recombination_feature RSS_spacer 28620|GeneID:28620 RSS_spacer -chr7 142301462 142301471 misc_recomb: TRBV2 0 + 142301462 142301471 160,82,45 recombination_feature RSS_nonamer 28620|GeneID:28620 RSS_nonamer -chr7 142309048 142309055 misc_recomb: TRBV3-1 0 + 142309048 142309055 160,82,45 recombination_feature RSS_heptamer 28619|GeneID:28619 RSS_heptamer -chr7 142309055 142309078 misc_recomb: TRBV3-1 0 + 142309055 142309078 160,82,45 recombination_feature RSS_spacer 28619|GeneID:28619 RSS_spacer -chr7 142309078 142309087 misc_recomb: TRBV3-1 0 + 142309078 142309087 160,82,45 recombination_feature RSS_nonamer 28619|GeneID:28619 RSS_nonamer -chr7 142313666 142313673 misc_recomb: TRBV4-1 0 + 142313666 142313673 160,82,45 recombination_feature RSS_heptamer 28617|GeneID:28617 RSS_heptamer -chr7 142313673 142313696 misc_recomb: TRBV4-1 0 + 142313673 142313696 160,82,45 recombination_feature RSS_spacer 28617|GeneID:28617 RSS_spacer -chr7 142313696 142313705 misc_recomb: TRBV4-1 0 + 142313696 142313705 160,82,45 recombination_feature RSS_nonamer 28617|GeneID:28617 RSS_nonamer -chr7 142321544 142321551 misc_recomb: TRBV5-1 0 + 142321544 142321551 160,82,45 recombination_feature RSS_heptamer 28614|GeneID:28614 RSS_heptamer -chr7 142321551 142321574 misc_recomb: TRBV5-1 0 + 142321551 142321574 160,82,45 recombination_feature RSS_spacer 28614|GeneID:28614 RSS_spacer -chr7 142321574 142321583 misc_recomb: TRBV5-1 0 + 142321574 142321583 160,82,45 recombination_feature RSS_nonamer 28614|GeneID:28614 RSS_nonamer -chr7 142328786 142328793 misc_recomb: TRBV6-1 0 + 142328786 142328793 160,82,45 recombination_feature RSS_heptamer 28606|GeneID:28606 RSS_heptamer -chr7 142328793 142328816 misc_recomb: TRBV6-1 0 + 142328793 142328816 160,82,45 recombination_feature RSS_spacer 28606|GeneID:28606 RSS_spacer -chr7 142328816 142328825 misc_recomb: TRBV6-1 0 + 142328816 142328825 160,82,45 recombination_feature RSS_nonamer 28606|GeneID:28606 RSS_nonamer -chr7 142332701 142332708 misc_recomb: TRBV7-1 0 + 142332701 142332708 160,82,45 recombination_feature RSS_heptamer 28597|GeneID:28597 RSS_heptamer -chr7 142345985 142345992 misc_recomb: TRBV4-2 0 + 142345985 142345992 160,82,45 recombination_feature RSS_heptamer 28616|GeneID:28616 RSS_heptamer -chr7 142345992 142346015 misc_recomb: TRBV4-2 0 + 142345992 142346015 160,82,45 recombination_feature RSS_spacer 28616|GeneID:28616 RSS_spacer -chr7 142346015 142346024 misc_recomb: TRBV4-2 0 + 142346015 142346024 160,82,45 recombination_feature RSS_nonamer 28616|GeneID:28616 RSS_nonamer -chr7 142349664 142349671 misc_recomb: TRBV6-3 0 + 142349664 142349671 160,82,45 recombination_feature RSS_heptamer 28604|GeneID:28604 RSS_heptamer -chr7 142349671 142349694 misc_recomb: TRBV6-3 0 + 142349671 142349694 160,82,45 recombination_feature RSS_spacer 28604|GeneID:28604 RSS_spacer -chr7 142349694 142349703 misc_recomb: TRBV6-3 0 + 142349694 142349703 160,82,45 recombination_feature RSS_nonamer 28604|GeneID:28604 RSS_nonamer -chr7 142353358 142353365 misc_recomb: TRBV7-2 0 + 142353358 142353365 160,82,45 recombination_feature RSS_heptamer 28596|GeneID:28596 RSS_heptamer -chr7 142353365 142353388 misc_recomb: TRBV7-2 0 + 142353365 142353388 160,82,45 recombination_feature RSS_spacer 28596|GeneID:28596 RSS_spacer -chr7 142353388 142353397 misc_recomb: TRBV7-2 0 + 142353388 142353397 160,82,45 recombination_feature RSS_nonamer 28596|GeneID:28596 RSS_nonamer -chr7 142358917 142358924 misc_recomb: TRBV8-1 0 + 142358917 142358924 160,82,45 recombination_feature RSS_heptamer 28588|GeneID:28588 RSS_heptamer -chr7 142358924 142358947 misc_recomb: TRBV8-1 0 + 142358924 142358947 160,82,45 recombination_feature RSS_spacer 28588|GeneID:28588 RSS_spacer -chr7 142358947 142358956 misc_recomb: TRBV8-1 0 + 142358947 142358956 160,82,45 recombination_feature RSS_nonamer 28588|GeneID:28588 RSS_nonamer -chr7 142372913 142372920 misc_recomb: TRBV5-2 0 + 142372913 142372920 160,82,45 recombination_feature RSS_heptamer 28613|GeneID:28613 RSS_heptamer -chr7 142372920 142372943 misc_recomb: TRBV5-2 0 + 142372920 142372943 160,82,45 recombination_feature RSS_spacer 28613|GeneID:28613 RSS_spacer -chr7 142372943 142372952 misc_recomb: TRBV5-2 0 + 142372943 142372952 160,82,45 recombination_feature RSS_nonamer 28613|GeneID:28613 RSS_nonamer -chr7 142381261 142381268 misc_recomb: TRBV6-4 0 + 142381261 142381268 160,82,45 recombination_feature RSS_heptamer 28603|GeneID:28603 RSS_heptamer -chr7 142381268 142381291 misc_recomb: TRBV6-4 0 + 142381268 142381291 160,82,45 recombination_feature RSS_spacer 28603|GeneID:28603 RSS_spacer -chr7 142381291 142381300 misc_recomb: TRBV6-4 0 + 142381291 142381300 160,82,45 recombination_feature RSS_nonamer 28603|GeneID:28603 RSS_nonamer -chr7 142384841 142384848 misc_recomb: TRBV7-3 0 + 142384841 142384848 160,82,45 recombination_feature RSS_heptamer 28595|GeneID:28595 RSS_heptamer -chr7 142384848 142384871 misc_recomb: TRBV7-3 0 + 142384848 142384871 160,82,45 recombination_feature RSS_spacer 28595|GeneID:28595 RSS_spacer -chr7 142384871 142384880 misc_recomb: TRBV7-3 0 + 142384871 142384880 160,82,45 recombination_feature RSS_nonamer 28595|GeneID:28595 RSS_nonamer -chr7 142386647 142386654 misc_recomb: TRBV8-2 0 + 142386647 142386654 160,82,45 recombination_feature RSS_heptamer 28587|GeneID:28587 RSS_heptamer -chr7 142386654 142386677 misc_recomb: TRBV8-2 0 + 142386654 142386677 160,82,45 recombination_feature RSS_spacer 28587|GeneID:28587 RSS_spacer -chr7 142386677 142386686 misc_recomb: TRBV8-2 0 + 142386677 142386686 160,82,45 recombination_feature RSS_nonamer 28587|GeneID:28587 RSS_nonamer -chr7 142389668 142389675 misc_recomb: TRBV5-3 0 + 142389668 142389675 160,82,45 recombination_feature RSS_heptamer 28612|GeneID:28612 RSS_heptamer -chr7 142389675 142389698 misc_recomb: TRBV5-3 0 + 142389675 142389698 160,82,45 recombination_feature RSS_spacer 28612|GeneID:28612 RSS_spacer -chr7 142389698 142389707 misc_recomb: TRBV5-3 0 + 142389698 142389707 160,82,45 recombination_feature RSS_nonamer 28612|GeneID:28612 RSS_nonamer -chr7 142392412 142392419 misc_recomb: TRBV9 0 + 142392412 142392419 160,82,45 recombination_feature RSS_heptamer 28586|GeneID:28586 RSS_heptamer -chr7 142392419 142392442 misc_recomb: TRBV9 0 + 142392419 142392442 160,82,45 recombination_feature RSS_spacer 28586|GeneID:28586 RSS_spacer -chr7 142392442 142392451 misc_recomb: TRBV9 0 + 142392442 142392451 160,82,45 recombination_feature RSS_nonamer 28586|GeneID:28586 RSS_nonamer -chr7 142400377 142400384 misc_recomb: TRBV10-1 0 + 142400377 142400384 160,82,45 recombination_feature RSS_heptamer 28585|GeneID:28585 RSS_heptamer -chr7 142400384 142400407 misc_recomb: TRBV10-1 0 + 142400384 142400407 160,82,45 recombination_feature RSS_spacer 28585|GeneID:28585 RSS_spacer -chr7 142400407 142400416 misc_recomb: TRBV10-1 0 + 142400407 142400416 160,82,45 recombination_feature RSS_nonamer 28585|GeneID:28585 RSS_nonamer -chr7 142408136 142408143 misc_recomb: TRBV11-1 0 + 142408136 142408143 160,82,45 recombination_feature RSS_heptamer 6957|GeneID:6957 RSS_heptamer -chr7 142408143 142408166 misc_recomb: TRBV11-1 0 + 142408143 142408166 160,82,45 recombination_feature RSS_spacer 6957|GeneID:6957 RSS_spacer -chr7 142408166 142408175 misc_recomb: TRBV11-1 0 + 142408166 142408175 160,82,45 recombination_feature RSS_nonamer 28582|GeneID:28582 RSS_nonamer -chr7 142415666 142415673 misc_recomb: TRBV12-1 0 + 142415666 142415673 160,82,45 recombination_feature RSS_heptamer 28579|GeneID:28579 RSS_heptamer -chr7 142415673 142415696 misc_recomb: TRBV12-1 0 + 142415673 142415696 160,82,45 recombination_feature RSS_spacer 28579|GeneID:28579 RSS_spacer -chr7 142415696 142415705 misc_recomb: TRBV12-1 0 + 142415696 142415705 160,82,45 recombination_feature RSS_nonamer 28579|GeneID:28579 RSS_nonamer -chr7 142425465 142425472 misc_recomb: TRBV10-2 0 + 142425465 142425472 160,82,45 recombination_feature RSS_heptamer 28584|GeneID:28584 RSS_heptamer -chr7 142425472 142425495 misc_recomb: TRBV10-2 0 + 142425472 142425495 160,82,45 recombination_feature RSS_spacer 28584|GeneID:28584 RSS_spacer -chr7 142425495 142425504 misc_recomb: TRBV10-2 0 + 142425495 142425504 160,82,45 recombination_feature RSS_nonamer 28584|GeneID:28584 RSS_nonamer -chr7 142434394 142434401 misc_recomb: TRBV11-2 0 + 142434394 142434401 160,82,45 recombination_feature RSS_heptamer 28581|GeneID:28581 RSS_heptamer -chr7 142434401 142434424 misc_recomb: TRBV11-2 0 + 142434401 142434424 160,82,45 recombination_feature RSS_spacer 28581|GeneID:28581 RSS_spacer -chr7 142434424 142434433 misc_recomb: TRBV11-2 0 + 142434424 142434433 160,82,45 recombination_feature RSS_nonamer 28581|GeneID:28581 RSS_nonamer -chr7 142441325 142441332 misc_recomb: TRBV12-2 0 + 142441325 142441332 160,82,45 recombination_feature RSS_heptamer 28578|GeneID:28578 RSS_heptamer -chr7 142441332 142441355 misc_recomb: TRBV12-2 0 + 142441332 142441355 160,82,45 recombination_feature RSS_spacer 28578|GeneID:28578 RSS_spacer -chr7 142441355 142441364 misc_recomb: TRBV12-2 0 + 142441355 142441364 160,82,45 recombination_feature RSS_nonamer 28578|GeneID:28578 RSS_nonamer -chr7 142451448 142451455 misc_recomb: TRBV6-5 0 + 142451448 142451455 160,82,45 recombination_feature RSS_heptamer 28602|GeneID:28602 RSS_heptamer -chr7 142451455 142451478 misc_recomb: TRBV6-5 0 + 142451455 142451478 160,82,45 recombination_feature RSS_spacer 28602|GeneID:28602 RSS_spacer -chr7 142451478 142451487 misc_recomb: TRBV6-5 0 + 142451478 142451487 160,82,45 recombination_feature RSS_nonamer 28602|GeneID:28602 RSS_nonamer -chr7 142455635 142455642 misc_recomb: TRBV7-4 0 + 142455635 142455642 160,82,45 recombination_feature RSS_heptamer 28594|GeneID:28594 RSS_heptamer -chr7 142455642 142455665 misc_recomb: TRBV7-4 0 + 142455642 142455665 160,82,45 recombination_feature RSS_spacer 28594|GeneID:28594 RSS_spacer -chr7 142455665 142455674 misc_recomb: TRBV7-4 0 + 142455665 142455674 160,82,45 recombination_feature RSS_nonamer 28594|GeneID:28594 RSS_nonamer -chr7 142463581 142463588 misc_recomb: TRBV5-4 0 + 142463581 142463588 160,82,45 recombination_feature RSS_heptamer 28611|GeneID:28611 RSS_heptamer -chr7 142463588 142463611 misc_recomb: TRBV5-4 0 + 142463588 142463611 160,82,45 recombination_feature RSS_spacer 28611|GeneID:28611 RSS_spacer -chr7 142463611 142463620 misc_recomb: TRBV5-4 0 + 142463611 142463620 160,82,45 recombination_feature RSS_nonamer 28611|GeneID:28611 RSS_nonamer -chr7 142470013 142470020 misc_recomb: TRBV6-6 0 + 142470013 142470020 160,82,45 recombination_feature RSS_heptamer 28601|GeneID:28601 RSS_heptamer -chr7 142470020 142470043 misc_recomb: TRBV6-6 0 + 142470020 142470043 160,82,45 recombination_feature RSS_spacer 28601|GeneID:28601 RSS_spacer -chr7 142470043 142470052 misc_recomb: TRBV6-6 0 + 142470043 142470052 160,82,45 recombination_feature RSS_nonamer 28601|GeneID:28601 RSS_nonamer -chr7 142474568 142474575 misc_recomb: TRBV7-5 0 + 142474568 142474575 160,82,45 recombination_feature RSS_heptamer 28593|GeneID:28593 RSS_heptamer -chr7 142474575 142474598 misc_recomb: TRBV7-5 0 + 142474575 142474598 160,82,45 recombination_feature RSS_spacer 28593|GeneID:28593 RSS_spacer -chr7 142474598 142474607 misc_recomb: TRBV7-5 0 + 142474598 142474607 160,82,45 recombination_feature RSS_nonamer 28593|GeneID:28593 RSS_nonamer -chr7 142483019 142483026 misc_recomb: TRBV5-5 0 + 142483019 142483026 160,82,45 recombination_feature RSS_heptamer 28610|GeneID:28610 RSS_heptamer -chr7 142483026 142483049 misc_recomb: TRBV5-5 0 + 142483026 142483049 160,82,45 recombination_feature RSS_spacer 28610|GeneID:28610 RSS_spacer -chr7 142483049 142483058 misc_recomb: TRBV5-5 0 + 142483049 142483058 160,82,45 recombination_feature RSS_nonamer 28610|GeneID:28610 RSS_nonamer -chr7 142488295 142488302 misc_recomb: TRBV6-7 0 + 142488295 142488302 160,82,45 recombination_feature RSS_heptamer 28600|GeneID:28600 RSS_heptamer -chr7 142488302 142488325 misc_recomb: TRBV6-7 0 + 142488302 142488325 160,82,45 recombination_feature RSS_spacer 28600|GeneID:28600 RSS_spacer -chr7 142488325 142488334 misc_recomb: TRBV6-7 0 + 142488325 142488334 160,82,45 recombination_feature RSS_nonamer 28600|GeneID:28600 RSS_nonamer -chr7 142492673 142492680 misc_recomb: TRBV7-6 0 + 142492673 142492680 160,82,45 recombination_feature RSS_heptamer 28592|GeneID:28592 RSS_heptamer -chr7 142492680 142492703 misc_recomb: TRBV7-6 0 + 142492680 142492703 160,82,45 recombination_feature RSS_spacer 28592|GeneID:28592 RSS_spacer -chr7 142492703 142492712 misc_recomb: TRBV7-6 0 + 142492703 142492712 160,82,45 recombination_feature RSS_nonamer 28592|GeneID:28592 RSS_nonamer -chr7 142500534 142500541 misc_recomb: TRBV5-6 0 + 142500534 142500541 160,82,45 recombination_feature RSS_heptamer 28609|GeneID:28609 RSS_heptamer -chr7 142500541 142500564 misc_recomb: TRBV5-6 0 + 142500541 142500564 160,82,45 recombination_feature RSS_spacer 28609|GeneID:28609 RSS_spacer -chr7 142500564 142500573 misc_recomb: TRBV5-6 0 + 142500564 142500573 160,82,45 recombination_feature RSS_nonamer 28609|GeneID:28609 RSS_nonamer -chr7 142507810 142507817 misc_recomb: TRBV6-8 0 + 142507810 142507817 160,82,45 recombination_feature RSS_heptamer 28599|GeneID:28599 RSS_heptamer -chr7 142507817 142507840 misc_recomb: TRBV6-8 0 + 142507817 142507840 160,82,45 recombination_feature RSS_spacer 28599|GeneID:28599 RSS_spacer -chr7 142507840 142507849 misc_recomb: TRBV6-8 0 + 142507840 142507849 160,82,45 recombination_feature RSS_nonamer 28599|GeneID:28599 RSS_nonamer -chr7 142512127 142512134 misc_recomb: TRBV7-7 0 + 142512127 142512134 160,82,45 recombination_feature RSS_heptamer 28591|GeneID:28591 RSS_heptamer -chr7 142512134 142512157 misc_recomb: TRBV7-7 0 + 142512134 142512157 160,82,45 recombination_feature RSS_spacer 28591|GeneID:28591 RSS_spacer -chr7 142512157 142512166 misc_recomb: TRBV7-7 0 + 142512157 142512166 160,82,45 recombination_feature RSS_nonamer 28591|GeneID:28591 RSS_nonamer -chr7 142520556 142520563 misc_recomb: TRBV5-7 0 + 142520556 142520563 160,82,45 recombination_feature RSS_heptamer 28608|GeneID:28608 RSS_heptamer -chr7 142520563 142520586 misc_recomb: TRBV5-7 0 + 142520563 142520586 160,82,45 recombination_feature RSS_spacer 28608|GeneID:28608 RSS_spacer -chr7 142520586 142520595 misc_recomb: TRBV5-7 0 + 142520586 142520595 160,82,45 recombination_feature RSS_nonamer 28608|GeneID:28608 RSS_nonamer -chr7 142529762 142529769 misc_recomb: TRBV7-9 0 + 142529762 142529769 160,82,45 recombination_feature RSS_heptamer 28589|GeneID:28589 RSS_heptamer -chr7 142529769 142529792 misc_recomb: TRBV7-9 0 + 142529769 142529792 160,82,45 recombination_feature RSS_spacer 28589|GeneID:28589 RSS_spacer -chr7 142529792 142529801 misc_recomb: TRBV7-9 0 + 142529792 142529801 160,82,45 recombination_feature RSS_nonamer 28589|GeneID:28589 RSS_nonamer -chr7 142536292 142536298 misc_recomb: TRBV13 0 + 142536292 142536298 160,82,45 recombination_feature RSS_heptamer 28574|GeneID:28574 RSS_heptamer -chr7 142536298 142536321 misc_recomb: TRBV13 0 + 142536298 142536321 160,82,45 recombination_feature RSS_spacer 28574|GeneID:28574 RSS_spacer -chr7 142536321 142536330 misc_recomb: TRBV13 0 + 142536321 142536330 160,82,45 recombination_feature RSS_nonamer 28574|GeneID:28574 RSS_nonamer -chr7 142544685 142544692 misc_recomb: TRBV10-3 0 + 142544685 142544692 160,82,45 recombination_feature RSS_heptamer 28583|GeneID:28583 RSS_heptamer -chr7 142544692 142544715 misc_recomb: TRBV10-3 0 + 142544692 142544715 160,82,45 recombination_feature RSS_spacer 28583|GeneID:28583 RSS_spacer -chr7 142544715 142544724 misc_recomb: TRBV10-3 0 + 142544715 142544724 160,82,45 recombination_feature RSS_nonamer 28583|GeneID:28583 RSS_nonamer -chr7 142555318 142555325 misc_recomb: TRBV11-3 0 + 142555318 142555325 160,82,45 recombination_feature RSS_heptamer 28580|GeneID:28580 RSS_heptamer -chr7 142555325 142555348 misc_recomb: TRBV11-3 0 + 142555325 142555348 160,82,45 recombination_feature RSS_spacer 28580|GeneID:28580 RSS_spacer -chr7 142555348 142555357 misc_recomb: TRBV11-3 0 + 142555348 142555357 160,82,45 recombination_feature RSS_nonamer 28580|GeneID:28580 RSS_nonamer -chr7 142560931 142560938 misc_recomb: TRBV12-3 0 + 142560931 142560938 160,82,45 recombination_feature RSS_heptamer 28577|GeneID:28577 RSS_heptamer -chr7 142560938 142560961 misc_recomb: TRBV12-3 0 + 142560938 142560961 160,82,45 recombination_feature RSS_spacer 28577|GeneID:28577 RSS_spacer -chr7 142560961 142560970 misc_recomb: TRBV12-3 0 + 142560961 142560970 160,82,45 recombination_feature RSS_nonamer 28577|GeneID:28577 RSS_nonamer -chr7 142564245 142564252 misc_recomb: TRBV12-4 0 + 142564245 142564252 160,82,45 recombination_feature RSS_heptamer 28576|GeneID:28576 RSS_heptamer -chr7 142564252 142564275 misc_recomb: TRBV12-4 0 + 142564252 142564275 160,82,45 recombination_feature RSS_spacer 28576|GeneID:28576 RSS_spacer -chr7 142564275 142564284 misc_recomb: TRBV12-4 0 + 142564275 142564284 160,82,45 recombination_feature RSS_nonamer 28576|GeneID:28576 RSS_nonamer -chr7 142581427 142581434 misc_recomb: TRBV12-5 0 + 142581427 142581434 160,82,45 recombination_feature RSS_heptamer 28575|GeneID:28575 RSS_heptamer -chr7 142581434 142581457 misc_recomb: TRBV12-5 0 + 142581434 142581457 160,82,45 recombination_feature RSS_spacer 28575|GeneID:28575 RSS_spacer -chr7 142581457 142581466 misc_recomb: TRBV12-5 0 + 142581457 142581466 160,82,45 recombination_feature RSS_nonamer 28575|GeneID:28575 RSS_nonamer -chr7 142588359 142588366 misc_recomb: TRBV14 0 + 142588359 142588366 160,82,45 recombination_feature RSS_heptamer 28573|GeneID:28573 RSS_heptamer -chr7 142588366 142588389 misc_recomb: TRBV14 0 + 142588366 142588389 160,82,45 recombination_feature RSS_spacer 28573|GeneID:28573 RSS_spacer -chr7 142588389 142588398 misc_recomb: TRBV14 0 + 142588389 142588398 160,82,45 recombination_feature RSS_nonamer 28573|GeneID:28573 RSS_nonamer -chr7 142593473 142593480 misc_recomb: TRBV15 0 + 142593473 142593480 160,82,45 recombination_feature RSS_heptamer 28572|GeneID:28572 RSS_heptamer -chr7 142593480 142593503 misc_recomb: TRBV15 0 + 142593480 142593503 160,82,45 recombination_feature RSS_spacer 28572|GeneID:28572 RSS_spacer -chr7 142593503 142593512 misc_recomb: TRBV15 0 + 142593503 142593512 160,82,45 recombination_feature RSS_nonamer 28572|GeneID:28572 RSS_nonamer -chr7 142598271 142598272 variation - t at this position converts a stop into tyrosine. 0 + 142598271 142598272 192,0,192 sequence_feature variation - t at this position converts a stop into tyrosine. 28571|GeneID:28571 variation - t at this position converts a stop into tyrosine. -chr7 142598469 142598476 misc_recomb: TRBV16 0 + 142598469 142598476 160,82,45 recombination_feature RSS_heptamer 28571|GeneID:28571 RSS_heptamer -chr7 142598476 142598499 misc_recomb: TRBV16 0 + 142598476 142598499 160,82,45 recombination_feature RSS_spacer 28571|GeneID:28571 RSS_spacer -chr7 142598499 142598508 misc_recomb: TRBV16 0 + 142598499 142598508 160,82,45 recombination_feature RSS_nonamer 28571|GeneID:28571 RSS_nonamer -chr7 142602360 142602367 misc_recomb: TRBV17 0 + 142602360 142602367 160,82,45 recombination_feature RSS_heptamer 28570|GeneID:28570 RSS_heptamer -chr7 142602367 142602390 misc_recomb: TRBV17 0 + 142602367 142602390 160,82,45 recombination_feature RSS_spacer 28570|GeneID:28570 RSS_spacer -chr7 142602390 142602399 misc_recomb: TRBV17 0 + 142602390 142602399 160,82,45 recombination_feature RSS_nonamer 28570|GeneID:28570 RSS_nonamer -chr7 142616415 142616422 misc_recomb: TRBV18 0 + 142616415 142616422 160,82,45 recombination_feature RSS_heptamer 28569|GeneID:28569 RSS_heptamer -chr7 142616422 142616445 misc_recomb: TRBV18 0 + 142616422 142616445 160,82,45 recombination_feature RSS_spacer 28569|GeneID:28569 RSS_spacer -chr7 142616445 142616454 misc_recomb: TRBV18 0 + 142616445 142616454 160,82,45 recombination_feature RSS_nonamer 28569|GeneID:28569 RSS_nonamer -chr7 142619532 142619539 misc_recomb: TRBV19 0 + 142619532 142619539 160,82,45 recombination_feature RSS_heptamer 28568|GeneID:28568 RSS_heptamer -chr7 142619539 142619562 misc_recomb: TRBV19 0 + 142619539 142619562 160,82,45 recombination_feature RSS_spacer 28568|GeneID:28568 RSS_spacer -chr7 142619562 142619571 misc_recomb: TRBV19 0 + 142619562 142619571 160,82,45 recombination_feature RSS_nonamer 28568|GeneID:28568 RSS_nonamer -chr7 142627399 142627406 misc_recomb: TRBV20-1 0 + 142627399 142627406 160,82,45 recombination_feature RSS_heptamer 28567|GeneID:28567 RSS_heptamer -chr7 142627406 142627429 misc_recomb: TRBV20-1 0 + 142627406 142627429 160,82,45 recombination_feature RSS_spacer 28567|GeneID:28567 RSS_spacer -chr7 142627429 142627438 misc_recomb: TRBV20-1 0 + 142627429 142627438 160,82,45 recombination_feature RSS_nonamer 28567|GeneID:28567 RSS_nonamer -chr7 142637384 142637391 misc_recomb: TRBV21-1 0 + 142637384 142637391 160,82,45 recombination_feature RSS_heptamer 6957|GeneID:6957 RSS_heptamer -chr7 142637391 142637414 misc_recomb: TRBV21-1 0 + 142637391 142637414 160,82,45 recombination_feature RSS_spacer 28566|GeneID:28566 RSS_spacer -chr7 142637414 142637423 misc_recomb: TRBV21-1 0 + 142637414 142637423 160,82,45 recombination_feature RSS_nonamer 28566|GeneID:28566 RSS_nonamer -chr7 142642196 142642203 misc_recomb: TRBV22-1 0 + 142642196 142642203 160,82,45 recombination_feature RSS_heptamer 28565|GeneID:28565 RSS_heptamer -chr7 142642203 142642226 misc_recomb: TRBV22-1 0 + 142642203 142642226 160,82,45 recombination_feature RSS_spacer 28565|GeneID:28565 RSS_spacer -chr7 142642226 142642235 misc_recomb: TRBV22-1 0 + 142642226 142642235 160,82,45 recombination_feature RSS_nonamer 28565|GeneID:28565 RSS_nonamer -chr7 142646467 142646474 misc_recomb: TRBV23-1 0 + 142646467 142646474 160,82,45 recombination_feature RSS_heptamer 6957|GeneID:6957 RSS_heptamer -chr7 142646474 142646497 misc_recomb: TRBV23-1 0 + 142646474 142646497 160,82,45 recombination_feature RSS_spacer 28564|GeneID:28564 RSS_spacer -chr7 142646497 142646506 misc_recomb: TRBV23-1 0 + 142646497 142646506 160,82,45 recombination_feature RSS_nonamer 28564|GeneID:28564 RSS_nonamer -chr7 142657213 142657220 misc_recomb: TRBV24-1 0 + 142657213 142657220 160,82,45 recombination_feature RSS_heptamer 28563|GeneID:28563 RSS_heptamer -chr7 142657220 142657243 misc_recomb: TRBV24-1 0 + 142657220 142657243 160,82,45 recombination_feature RSS_spacer 28563|GeneID:28563 RSS_spacer -chr7 142657243 142657252 misc_recomb: TRBV24-1 0 + 142657243 142657252 160,82,45 recombination_feature RSS_nonamer 28563|GeneID:28563 RSS_nonamer -chr7 142671244 142671251 misc_recomb: TRBV25-1 0 + 142671244 142671251 160,82,45 recombination_feature RSS_heptamer 28562|GeneID:28562 RSS_heptamer -chr7 142671251 142671274 misc_recomb: TRBV25-1 0 + 142671251 142671274 160,82,45 recombination_feature RSS_spacer 28562|GeneID:28562 RSS_spacer -chr7 142671274 142671283 misc_recomb: TRBV25-1 0 + 142671274 142671283 160,82,45 recombination_feature RSS_nonamer 28562|GeneID:28562 RSS_nonamer -chr7 142681869 142681876 misc_recomb: TRBVA 0 + 142681869 142681876 160,82,45 recombination_feature RSS_heptamer 28556|GeneID:28556 RSS_heptamer -chr7 142681876 142681899 misc_recomb: TRBVA 0 + 142681876 142681899 160,82,45 recombination_feature RSS_spacer 28556|GeneID:28556 RSS_spacer -chr7 142681899 142681908 misc_recomb: TRBVA 0 + 142681899 142681908 160,82,45 recombination_feature RSS_nonamer 28556|GeneID:28556 RSS_nonamer -chr7 142696183 142696190 misc_recomb: TRBV26 0 + 142696183 142696190 160,82,45 recombination_feature RSS_heptamer 28561|GeneID:28561 RSS_heptamer -chr7 142696190 142696213 misc_recomb: TRBV26 0 + 142696190 142696213 160,82,45 recombination_feature RSS_spacer 28561|GeneID:28561 RSS_spacer -chr7 142696213 142696222 misc_recomb: TRBV26 0 + 142696213 142696222 160,82,45 recombination_feature RSS_nonamer 28561|GeneID:28561 RSS_nonamer -chr7 142711924 142711931 misc_recomb: TRBVB 0 + 142711924 142711931 160,82,45 recombination_feature RSS_heptamer 28555|GeneID:28555 RSS_heptamer -chr7 142715861 142715868 misc_recomb: TRBV27 0 + 142715861 142715868 160,82,45 recombination_feature RSS_heptamer 28560|GeneID:28560 RSS_heptamer -chr7 142715868 142715891 misc_recomb: TRBV27 0 + 142715868 142715891 160,82,45 recombination_feature RSS_spacer 28560|GeneID:28560 RSS_spacer -chr7 142715891 142715900 misc_recomb: TRBV27 0 + 142715891 142715900 160,82,45 recombination_feature RSS_nonamer 28560|GeneID:28560 RSS_nonamer -chr7 142721160 142721167 misc_recomb: TRBV28 0 + 142721160 142721167 160,82,45 recombination_feature RSS_heptamer 28559|GeneID:28559 RSS_heptamer -chr7 142721167 142721190 misc_recomb: TRBV28 0 + 142721167 142721190 160,82,45 recombination_feature RSS_spacer 28559|GeneID:28559 RSS_spacer -chr7 142721190 142721199 misc_recomb: TRBV28 0 + 142721190 142721199 160,82,45 recombination_feature RSS_nonamer 28559|GeneID:28559 RSS_nonamer -chr7 142740894 142740901 misc_recomb: TRBV29-1 0 + 142740894 142740901 160,82,45 recombination_feature RSS_heptamer 28558|GeneID:28558 RSS_heptamer -chr7 142740901 142740924 misc_recomb: TRBV29-1 0 + 142740901 142740924 160,82,45 recombination_feature RSS_spacer 28558|GeneID:28558 RSS_spacer -chr7 142740924 142740933 misc_recomb: TRBV29-1 0 + 142740924 142740933 160,82,45 recombination_feature RSS_nonamer 28558|GeneID:28558 RSS_nonamer -chr7 142786184 142786193 misc_recomb: TRBD1 0 + 142786184 142786193 160,82,45 recombination_feature 5'D_nonamer 28637|GeneID:28637 5'D_nonamer -chr7 142786193 142786205 misc_recomb: TRBD1 0 + 142786193 142786205 160,82,45 recombination_feature 5'D_spacer 28637|GeneID:28637 5'D_spacer -chr7 142786205 142786212 misc_recomb: TRBD1 0 + 142786205 142786212 160,82,45 recombination_feature 5'D_heptamer 28637|GeneID:28637 5'D_heptamer -chr7 142786224 142786231 misc_recomb: TRBD1 0 + 142786224 142786231 160,82,45 recombination_feature 3'D_heptamer 28637|GeneID:28637 3'D_heptamer -chr7 142786231 142786254 misc_recomb: TRBD1 0 + 142786231 142786254 160,82,45 recombination_feature 3'D_spacer 28637|GeneID:28637 3'D_spacer -chr7 142786254 142786263 misc_recomb: TRBD1 0 + 142786254 142786263 160,82,45 recombination_feature 3'D_nonamer 28637|GeneID:28637 3'D_nonamer -chr7 142786851 142786860 misc_recomb: TRBJ1-1 0 + 142786851 142786860 160,82,45 recombination_feature J_nonamer 28635|GeneID:28635 J_nonamer -chr7 142786860 142786872 misc_recomb: TRBJ1-1 0 + 142786860 142786872 160,82,45 recombination_feature J_spacer 28635|GeneID:28635 J_spacer -chr7 142786872 142786879 misc_recomb: TRBJ1-1 0 + 142786872 142786879 160,82,45 recombination_feature J_heptamer 28635|GeneID:28635 J_heptamer -chr7 142786988 142786997 misc_recomb: TRBJ1-2 0 + 142786988 142786997 160,82,45 recombination_feature J_nonamer 28634|GeneID:28634 J_nonamer -chr7 142786997 142787009 misc_recomb: TRBJ1-2 0 + 142786997 142787009 160,82,45 recombination_feature J_spacer 28634|GeneID:28634 J_spacer -chr7 142787009 142787016 misc_recomb: TRBJ1-2 0 + 142787009 142787016 160,82,45 recombination_feature J_heptamer 28634|GeneID:28634 J_heptamer -chr7 142787601 142787610 misc_recomb: TRBJ1-3 0 + 142787601 142787610 160,82,45 recombination_feature J_nonamer 28633|GeneID:28633 J_nonamer -chr7 142787610 142787622 misc_recomb: TRBJ1-3 0 + 142787610 142787622 160,82,45 recombination_feature J_spacer 28633|GeneID:28633 J_spacer -chr7 142787622 142787629 misc_recomb: TRBJ1-3 0 + 142787622 142787629 160,82,45 recombination_feature J_heptamer 28633|GeneID:28633 J_heptamer -chr7 142788196 142788205 misc_recomb: TRBJ1-4 0 + 142788196 142788205 160,82,45 recombination_feature J_nonamer 28632|GeneID:28632 J_nonamer -chr7 142788205 142788217 misc_recomb: TRBJ1-4 0 + 142788205 142788217 160,82,45 recombination_feature J_spacer 28632|GeneID:28632 J_spacer -chr7 142788217 142788224 misc_recomb: TRBJ1-4 0 + 142788217 142788224 160,82,45 recombination_feature J_heptamer 28632|GeneID:28632 J_heptamer -chr7 142788469 142788478 misc_recomb: TRBJ1-5 0 + 142788469 142788478 160,82,45 recombination_feature J_nonamer 28631|GeneID:28631 J_nonamer -chr7 142788478 142788490 misc_recomb: TRBJ1-5 0 + 142788478 142788490 160,82,45 recombination_feature J_spacer 28631|GeneID:28631 J_spacer -chr7 142788490 142788497 misc_recomb: TRBJ1-5 0 + 142788490 142788497 160,82,45 recombination_feature J_heptamer 28631|GeneID:28631 J_heptamer -chr7 142788959 142788968 misc_recomb: TRBJ1-6 0 + 142788959 142788968 160,82,45 recombination_feature J_nonamer 28630|GeneID:28630 J_nonamer -chr7 142788968 142788980 misc_recomb: TRBJ1-6 0 + 142788968 142788980 160,82,45 recombination_feature J_spacer 28630|GeneID:28630 J_spacer -chr7 142788980 142788987 misc_recomb: TRBJ1-6 0 + 142788980 142788987 160,82,45 recombination_feature J_heptamer 28630|GeneID:28630 J_heptamer -chr7 142795676 142795685 misc_recomb: TRBD2 0 + 142795676 142795685 160,82,45 recombination_feature 5'D_nonamer 28636|GeneID:28636 5'D_nonamer -chr7 142795685 142795697 misc_recomb: TRBD2 0 + 142795685 142795697 160,82,45 recombination_feature 5'D_spacer 28636|GeneID:28636 5'D_spacer -chr7 142795697 142795704 misc_recomb: TRBD2 0 + 142795697 142795704 160,82,45 recombination_feature 5'D_heptamer 28636|GeneID:28636 5'D_heptamer -chr7 142795720 142795727 misc_recomb: TRBD2 0 + 142795720 142795727 160,82,45 recombination_feature 3'D_heptamer 28636|GeneID:28636 3'D_heptamer -chr7 142795727 142795750 misc_recomb: TRBD2 0 + 142795727 142795750 160,82,45 recombination_feature 3'D_spacer 28636|GeneID:28636 3'D_spacer -chr7 142795750 142795759 misc_recomb: TRBD2 0 + 142795750 142795759 160,82,45 recombination_feature 3'D_nonamer 28636|GeneID:28636 3'D_nonamer -chr7 142796336 142796345 misc_recomb: TRBJ2-1 0 + 142796336 142796345 160,82,45 recombination_feature J_nonamer 28629|GeneID:28629 J_nonamer -chr7 142796345 142796357 misc_recomb: TRBJ2-1 0 + 142796345 142796357 160,82,45 recombination_feature J_spacer 28629|GeneID:28629 J_spacer -chr7 142796357 142796364 misc_recomb: TRBJ2-1 0 + 142796357 142796364 160,82,45 recombination_feature J_heptamer 28629|GeneID:28629 J_heptamer -chr7 142796531 142796540 misc_recomb: TRBJ2-2 0 + 142796531 142796540 160,82,45 recombination_feature J_nonamer 28628|GeneID:28628 J_nonamer -chr7 142796540 142796552 misc_recomb: TRBJ2-2 0 + 142796540 142796552 160,82,45 recombination_feature J_spacer 28628|GeneID:28628 J_spacer -chr7 142796552 142796559 misc_recomb: TRBJ2-2 0 + 142796552 142796559 160,82,45 recombination_feature J_heptamer 28628|GeneID:28628 J_heptamer -chr7 142796689 142796696 misc_recomb: TRBJ2-2P 0 + 142796689 142796696 160,82,45 recombination_feature J_heptamer 28627|GeneID:28627 J_heptamer -chr7 142796818 142796827 misc_recomb: TRBJ2-3 0 + 142796818 142796827 160,82,45 recombination_feature J_nonamer 28626|GeneID:28626 J_nonamer -chr7 142796827 142796839 misc_recomb: TRBJ2-3 0 + 142796827 142796839 160,82,45 recombination_feature J_spacer 28626|GeneID:28626 J_spacer -chr7 142796839 142796846 misc_recomb: TRBJ2-3 0 + 142796839 142796846 160,82,45 recombination_feature J_heptamer 28626|GeneID:28626 J_heptamer -chr7 142796969 142796976 misc_recomb: TRBJ2-4 0 + 142796969 142796976 160,82,45 recombination_feature J_nonamer 28625|GeneID:28625 J_nonamer -chr7 142796976 142796990 misc_recomb: TRBJ2-4 0 + 142796976 142796990 160,82,45 recombination_feature J_spacer 28625|GeneID:28625 J_spacer -chr7 142796990 142796997 misc_recomb: TRBJ2-4 0 + 142796990 142796997 160,82,45 recombination_feature J_heptamer 28625|GeneID:28625 J_heptamer -chr7 142797090 142797099 misc_recomb: TRBJ2-5 0 + 142797090 142797099 160,82,45 recombination_feature RSS_nonamer 28624|GeneID:28624 RSS_nonamer -chr7 142797099 142797111 misc_recomb: TRBJ2-5 0 + 142797099 142797111 160,82,45 recombination_feature RSS_spacer 28624|GeneID:28624 RSS_spacer -chr7 142797111 142797118 misc_recomb: TRBJ2-5 0 + 142797111 142797118 160,82,45 recombination_feature RSS_heptamer 28624|GeneID:28624 RSS_heptamer -chr7 142797210 142797219 misc_recomb: TRBJ2-6 0 + 142797210 142797219 160,82,45 recombination_feature J_nonamer 6957|GeneID:6957 J_nonamer -chr7 142797219 142797231 misc_recomb: TRBJ2-6 0 + 142797219 142797231 160,82,45 recombination_feature J_spacer 6957|GeneID:6957 J_spacer -chr7 142797231 142797238 misc_recomb: TRBJ2-6 0 + 142797231 142797238 160,82,45 recombination_feature J_heptamer 6957|GeneID:6957 J_heptamer -chr7 142797427 142797436 misc_recomb: TRBJ2-7 0 + 142797427 142797436 160,82,45 recombination_feature J_nonamer 28622|GeneID:28622 J_nonamer -chr7 142797436 142797448 misc_recomb: TRBJ2-7 0 + 142797436 142797448 160,82,45 recombination_feature J_spacer 28622|GeneID:28622 J_spacer -chr7 142797448 142797455 misc_recomb: TRBJ2-7 0 + 142797448 142797455 160,82,45 recombination_feature J_heptamer 28622|GeneID:28622 J_heptamer -chr7 142812546 142812555 misc_recomb: TRBV30 0 - 142812546 142812555 160,82,45 recombination_feature RSS_nonamer 28557|GeneID:28557 RSS_nonamer -chr7 142812555 142812578 misc_recomb: TRBV30 0 - 142812555 142812578 160,82,45 recombination_feature RSS_spacer 28557|GeneID:28557 RSS_spacer -chr7 142812578 142812585 misc_recomb: TRBV30 0 - 142812578 142812585 160,82,45 recombination_feature RSS_heptamer 28557|GeneID:28557 RSS_heptamer -chr7 150962897 150966344 enhancer 0 + 150962897 150966344 0,128,128 enhancer VISTA enhancer hs2192 110121275|GeneID:110121275 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/5] VISTA enhancer hs2192 | enhancer in: heart[5/5] -chr7 151686255 151690588 enhancer 0 + 151686255 151690588 0,128,128 enhancer VISTA enhancer hs2193 110121276|GeneID:110121276 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[4/5] VISTA enhancer hs2193 | enhancer in: heart[4/5] -chr7 151692798 151697992 enhancer 0 + 151692798 151697992 0,128,128 enhancer VISTA enhancer hs2194 110121277|GeneID:110121277 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/8] | heart[4/8] VISTA enhancer hs2194 | enhancer in: limb[3/8] | heart[4/8] -chr7 151752946 151756627 enhancer 0 + 151752946 151756627 0,128,128 enhancer VISTA enhancer hs2199 110121278|GeneID:110121278 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[5/6] VISTA enhancer hs2199 | enhancer in: midbrain (mesencephalon)[5/6] -chr7 151756862 151760019 enhancer 0 + 151756862 151760019 0,128,128 enhancer VISTA enhancer hs2200 110121279|GeneID:110121279 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[8/12] VISTA enhancer hs2200 | enhancer in: midbrain (mesencephalon)[8/12] -chr7 155471351 155473114 enhancer 0 + 155471351 155473114 0,128,128 enhancer VISTA enhancer hs1418 110121094|GeneID:110121094 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] VISTA enhancer hs1418 | enhancer in: hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] -chr7 155754921 155756094 enhancer 0 + 155754921 155756094 0,128,128 enhancer VISTA enhancer hs1268 110121044|GeneID:110121044,155435|GeneID:155435 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/6] VISTA enhancer hs1268 | enhancer in: limb[4/6] -chr7 156052781 156055038 silencer 0 + 156052781 156055038 0,128,128 silencer 106049962|GeneID:106049962 25782671|PMID:25782671 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25782671] repressor of transcription in in vitro assay repressor of transcription in in vitro assay -chr7 156268356 156269154 enhancer 0 + 156268356 156269154 0,128,128 enhancer SBE2 106049960|GeneID:106049960 16407397|PMID:16407397 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16407397] enhancer in the ventral diencephalon SBE2 | enhancer in the ventral diencephalon -chr7 156268513 156268520 protein_bind: SRY (sex determining region Y)-box 2 0 + 156268513 156268520 192,0,0 protein_binding_site SoxB1 binding site 106049960|GeneID:106049960 22421044|PMID:22421044 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22421044] SoxB1 binding site | SRY (sex determining region Y)-box 2 -chr7 156268809 156268819 protein_bind: SIX homeobox 3 and 6 0 + 156268809 156268819 192,0,0 protein_binding_site Six binding site 106049960|GeneID:106049960 18836447|PMID:18836447 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18836447] required for enhancer activity Six binding site | required for enhancer activity | SIX homeobox 3 and 6 -chr7 156791101 156791875 conserved_region 0 + 156791101 156791875 192,0,192 sequence_feature conserved region; highly conserved ZRS region 105804841|GeneID:105804841 12837695|PMID:12837695 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:12837695] conserved region; highly conserved ZRS region -chr7 156791408 156791851 enhancer 0 + 156791408 156791851 0,128,128 enhancer region orthologous to mouse 445 bp fragment that functions as an enhancer in fore and hind limb buds 105804841|GeneID:105804841 12837695|PMID:12837695 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:12837695] region orthologous to mouse 445 bp fragment that functions as an enhancer in fore and hind limb buds -chr7 156791552 156791875 enhancer 0 + 156791552 156791875 0,128,128 enhancer region orthologous to mouse 305 bp fragment that functions as an enhancer in the posterior margin of fore and hind limbs 105804841|GeneID:105804841 12837695|PMID:12837695 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:12837695] region orthologous to mouse 305 bp fragment that functions as an enhancer in the posterior margin of fore and hind limbs -chr7 159015309 159015839 enhancer 0 + 159015309 159015839 0,128,128 enhancer amplified fragment containing most of the chr7:158808159-158808606 (GRCh37) CAGE region 108254663|GeneID:108254663,154822|GeneID:154822 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr7:158808159-158808606 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr7 159015467 159015915 CAGE_cluster 0 + 159015467 159015915 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254663|GeneID:108254663,154822|GeneID:154822 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr7 159095628 159098671 enhancer 0 + 159095628 159098671 0,128,128 enhancer VISTA enhancer hs1753 110121203|GeneID:110121203 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[14/18] VISTA enhancer hs1753 | enhancer in: heart[14/18] -chr7_KI270803v1_alt 261380 261387 misc_recomb: TRBV1 0 + 261380 261387 160,82,45 recombination_feature RSS_heptamer 28621|GeneID:28621 RSS_heptamer -chr7_KI270803v1_alt 261387 261410 misc_recomb: TRBV1 0 + 261387 261410 160,82,45 recombination_feature RSS_spacer 28621|GeneID:28621 RSS_spacer -chr7_KI270803v1_alt 261410 261419 misc_recomb: TRBV1 0 + 261410 261419 160,82,45 recombination_feature RSS_nonamer 28621|GeneID:28621 RSS_nonamer -chr7_KI270803v1_alt 263335 263342 misc_recomb: TRBV2 0 + 263335 263342 160,82,45 recombination_feature RSS_heptamer 28620|GeneID:28620 RSS_heptamer -chr7_KI270803v1_alt 263342 263365 misc_recomb: TRBV2 0 + 263342 263365 160,82,45 recombination_feature RSS_spacer 28620|GeneID:28620 RSS_spacer -chr7_KI270803v1_alt 263365 263374 misc_recomb: TRBV2 0 + 263365 263374 160,82,45 recombination_feature RSS_nonamer 28620|GeneID:28620 RSS_nonamer -chr7_KI270803v1_alt 270951 270958 misc_recomb: TRBV3-1 0 + 270951 270958 160,82,45 recombination_feature RSS_heptamer 28619|GeneID:28619 RSS_heptamer -chr7_KI270803v1_alt 270958 270981 misc_recomb: TRBV3-1 0 + 270958 270981 160,82,45 recombination_feature RSS_spacer 28619|GeneID:28619 RSS_spacer -chr7_KI270803v1_alt 270981 270990 misc_recomb: TRBV3-1 0 + 270981 270990 160,82,45 recombination_feature RSS_nonamer 28619|GeneID:28619 RSS_nonamer -chr7_KI270803v1_alt 275569 275576 misc_recomb: TRBV4-1 0 + 275569 275576 160,82,45 recombination_feature RSS_heptamer 28617|GeneID:28617 RSS_heptamer -chr7_KI270803v1_alt 275576 275599 misc_recomb: TRBV4-1 0 + 275576 275599 160,82,45 recombination_feature RSS_spacer 28617|GeneID:28617 RSS_spacer -chr7_KI270803v1_alt 275599 275608 misc_recomb: TRBV4-1 0 + 275599 275608 160,82,45 recombination_feature RSS_nonamer 28617|GeneID:28617 RSS_nonamer -chr7_KI270803v1_alt 283443 283450 misc_recomb: TRBV5-1 0 + 283443 283450 160,82,45 recombination_feature RSS_heptamer 28614|GeneID:28614 RSS_heptamer -chr7_KI270803v1_alt 283450 283473 misc_recomb: TRBV5-1 0 + 283450 283473 160,82,45 recombination_feature RSS_spacer 28614|GeneID:28614 RSS_spacer -chr7_KI270803v1_alt 283473 283482 misc_recomb: TRBV5-1 0 + 283473 283482 160,82,45 recombination_feature RSS_nonamer 28614|GeneID:28614 RSS_nonamer -chr7_KI270803v1_alt 290690 290697 misc_recomb: TRBV6-1 0 + 290690 290697 160,82,45 recombination_feature RSS_heptamer 28606|GeneID:28606 RSS_heptamer -chr7_KI270803v1_alt 290697 290720 misc_recomb: TRBV6-1 0 + 290697 290720 160,82,45 recombination_feature RSS_spacer 28606|GeneID:28606 RSS_spacer -chr7_KI270803v1_alt 290720 290729 misc_recomb: TRBV6-1 0 + 290720 290729 160,82,45 recombination_feature RSS_nonamer 28606|GeneID:28606 RSS_nonamer -chr7_KI270803v1_alt 294607 294614 misc_recomb: TRBV7-1 0 + 294607 294614 160,82,45 recombination_feature RSS_heptamer 28597|GeneID:28597 RSS_heptamer -chr7_KI270803v1_alt 307896 307903 misc_recomb: TRBV4-2 0 + 307896 307903 160,82,45 recombination_feature RSS_heptamer 28616|GeneID:28616 RSS_heptamer -chr7_KI270803v1_alt 307903 307926 misc_recomb: TRBV4-2 0 + 307903 307926 160,82,45 recombination_feature RSS_spacer 28616|GeneID:28616 RSS_spacer -chr7_KI270803v1_alt 307926 307935 misc_recomb: TRBV4-2 0 + 307926 307935 160,82,45 recombination_feature RSS_nonamer 28616|GeneID:28616 RSS_nonamer -chr7_KI270803v1_alt 311575 311582 misc_recomb: TRBV6-2 0 + 311575 311582 160,82,45 recombination_feature RSS_heptamer 28605|GeneID:28605 RSS_heptamer -chr7_KI270803v1_alt 311582 311605 misc_recomb: TRBV6-2 0 + 311582 311605 160,82,45 recombination_feature RSS_spacer 28605|GeneID:28605 RSS_spacer -chr7_KI270803v1_alt 311605 311614 misc_recomb: TRBV6-2 0 + 311605 311614 160,82,45 recombination_feature RSS_nonamer 28605|GeneID:28605 RSS_nonamer -chr7_KI270803v1_alt 321561 321568 misc_recomb: TRBV3-2 0 + 321561 321568 160,82,45 recombination_feature RSS_heptamer 28618|GeneID:28618 RSS_heptamer -chr7_KI270803v1_alt 321568 321591 misc_recomb: TRBV3-2 0 + 321568 321591 160,82,45 recombination_feature RSS_spacer 28618|GeneID:28618 RSS_spacer -chr7_KI270803v1_alt 321591 321600 misc_recomb: TRBV3-2 0 + 321591 321600 160,82,45 recombination_feature RSS_nonamer 28618|GeneID:28618 RSS_nonamer -chr7_KI270803v1_alt 325014 325021 misc_recomb: TRBV4-3 0 + 325014 325021 160,82,45 recombination_feature RSS_heptamer 28615|GeneID:28615 RSS_heptamer -chr7_KI270803v1_alt 325021 325044 misc_recomb: TRBV4-3 0 + 325021 325044 160,82,45 recombination_feature RSS_spacer 28615|GeneID:28615 RSS_spacer -chr7_KI270803v1_alt 325044 325053 misc_recomb: TRBV4-3 0 + 325044 325053 160,82,45 recombination_feature RSS_nonamer 28615|GeneID:28615 RSS_nonamer -chr7_KI270803v1_alt 333228 333235 misc_recomb: TRBV6-3 0 + 333228 333235 160,82,45 recombination_feature RSS_heptamer 28604|GeneID:28604 RSS_heptamer -chr7_KI270803v1_alt 333235 333258 misc_recomb: TRBV6-3 0 + 333235 333258 160,82,45 recombination_feature RSS_spacer 28604|GeneID:28604 RSS_spacer -chr7_KI270803v1_alt 333258 333267 misc_recomb: TRBV6-3 0 + 333258 333267 160,82,45 recombination_feature RSS_nonamer 28604|GeneID:28604 RSS_nonamer -chr7_KI270803v1_alt 336930 336937 misc_recomb: TRBV7-2 0 + 336930 336937 160,82,45 recombination_feature RSS_heptamer 28596|GeneID:28596 RSS_heptamer -chr7_KI270803v1_alt 336937 336960 misc_recomb: TRBV7-2 0 + 336937 336960 160,82,45 recombination_feature RSS_spacer 28596|GeneID:28596 RSS_spacer -chr7_KI270803v1_alt 336960 336969 misc_recomb: TRBV7-2 0 + 336960 336969 160,82,45 recombination_feature RSS_nonamer 28596|GeneID:28596 RSS_nonamer -chr7_KI270803v1_alt 342489 342496 misc_recomb: TRBV8-1 0 + 342489 342496 160,82,45 recombination_feature RSS_heptamer 28588|GeneID:28588 RSS_heptamer -chr7_KI270803v1_alt 342496 342519 misc_recomb: TRBV8-1 0 + 342496 342519 160,82,45 recombination_feature RSS_spacer 28588|GeneID:28588 RSS_spacer -chr7_KI270803v1_alt 342519 342528 misc_recomb: TRBV8-1 0 + 342519 342528 160,82,45 recombination_feature RSS_nonamer 28588|GeneID:28588 RSS_nonamer -chr7_KI270803v1_alt 356495 356502 misc_recomb: TRBV5-2 0 + 356495 356502 160,82,45 recombination_feature RSS_heptamer 28613|GeneID:28613 RSS_heptamer -chr7_KI270803v1_alt 356502 356525 misc_recomb: TRBV5-2 0 + 356502 356525 160,82,45 recombination_feature RSS_spacer 28613|GeneID:28613 RSS_spacer -chr7_KI270803v1_alt 356525 356534 misc_recomb: TRBV5-2 0 + 356525 356534 160,82,45 recombination_feature RSS_nonamer 28613|GeneID:28613 RSS_nonamer -chr7_KI270803v1_alt 364838 364845 misc_recomb: TRBV6-4 0 + 364838 364845 160,82,45 recombination_feature RSS_heptamer 28603|GeneID:28603 RSS_heptamer -chr7_KI270803v1_alt 364845 364868 misc_recomb: TRBV6-4 0 + 364845 364868 160,82,45 recombination_feature RSS_spacer 28603|GeneID:28603 RSS_spacer -chr7_KI270803v1_alt 364868 364877 misc_recomb: TRBV6-4 0 + 364868 364877 160,82,45 recombination_feature RSS_nonamer 28603|GeneID:28603 RSS_nonamer -chr7_KI270803v1_alt 368431 368438 misc_recomb: TRBV7-3 0 + 368431 368438 160,82,45 recombination_feature RSS_heptamer 28595|GeneID:28595 RSS_heptamer -chr7_KI270803v1_alt 368438 368461 misc_recomb: TRBV7-3 0 + 368438 368461 160,82,45 recombination_feature RSS_spacer 28595|GeneID:28595 RSS_spacer -chr7_KI270803v1_alt 368461 368470 misc_recomb: TRBV7-3 0 + 368461 368470 160,82,45 recombination_feature RSS_nonamer 28595|GeneID:28595 RSS_nonamer -chr7_KI270803v1_alt 370237 370244 misc_recomb: TRBV8-2 0 + 370237 370244 160,82,45 recombination_feature RSS_heptamer 28587|GeneID:28587 RSS_heptamer -chr7_KI270803v1_alt 370244 370267 misc_recomb: TRBV8-2 0 + 370244 370267 160,82,45 recombination_feature RSS_spacer 28587|GeneID:28587 RSS_spacer -chr7_KI270803v1_alt 370267 370276 misc_recomb: TRBV8-2 0 + 370267 370276 160,82,45 recombination_feature RSS_nonamer 28587|GeneID:28587 RSS_nonamer -chr7_KI270803v1_alt 373259 373266 misc_recomb: TRBV5-3 0 + 373259 373266 160,82,45 recombination_feature RSS_heptamer 28612|GeneID:28612 RSS_heptamer -chr7_KI270803v1_alt 373266 373289 misc_recomb: TRBV5-3 0 + 373266 373289 160,82,45 recombination_feature RSS_spacer 28612|GeneID:28612 RSS_spacer -chr7_KI270803v1_alt 373289 373298 misc_recomb: TRBV5-3 0 + 373289 373298 160,82,45 recombination_feature RSS_nonamer 28612|GeneID:28612 RSS_nonamer -chr7_KI270803v1_alt 376003 376010 misc_recomb: TRBV9 0 + 376003 376010 160,82,45 recombination_feature RSS_heptamer 28586|GeneID:28586 RSS_heptamer -chr7_KI270803v1_alt 376010 376033 misc_recomb: TRBV9 0 + 376010 376033 160,82,45 recombination_feature RSS_spacer 28586|GeneID:28586 RSS_spacer -chr7_KI270803v1_alt 376033 376042 misc_recomb: TRBV9 0 + 376033 376042 160,82,45 recombination_feature RSS_nonamer 28586|GeneID:28586 RSS_nonamer -chr7_KI270803v1_alt 383970 383977 misc_recomb: TRBV10-1 0 + 383970 383977 160,82,45 recombination_feature RSS_heptamer 28585|GeneID:28585 RSS_heptamer -chr7_KI270803v1_alt 383977 384000 misc_recomb: TRBV10-1 0 + 383977 384000 160,82,45 recombination_feature RSS_spacer 28585|GeneID:28585 RSS_spacer -chr7_KI270803v1_alt 384000 384009 misc_recomb: TRBV10-1 0 + 384000 384009 160,82,45 recombination_feature RSS_nonamer 28585|GeneID:28585 RSS_nonamer -chr7_KI270803v1_alt 391723 391730 misc_recomb: TRBV11-1 0 + 391723 391730 160,82,45 recombination_feature RSS_heptamer 6957|GeneID:6957 RSS_heptamer -chr7_KI270803v1_alt 391730 391753 misc_recomb: TRBV11-1 0 + 391730 391753 160,82,45 recombination_feature RSS_spacer 6957|GeneID:6957 RSS_spacer -chr7_KI270803v1_alt 391753 391762 misc_recomb: TRBV11-1 0 + 391753 391762 160,82,45 recombination_feature RSS_nonamer 28582|GeneID:28582 RSS_nonamer -chr7_KI270803v1_alt 399253 399260 misc_recomb: TRBV12-1 0 + 399253 399260 160,82,45 recombination_feature RSS_heptamer 28579|GeneID:28579 RSS_heptamer -chr7_KI270803v1_alt 399260 399283 misc_recomb: TRBV12-1 0 + 399260 399283 160,82,45 recombination_feature RSS_spacer 28579|GeneID:28579 RSS_spacer -chr7_KI270803v1_alt 399283 399292 misc_recomb: TRBV12-1 0 + 399283 399292 160,82,45 recombination_feature RSS_nonamer 28579|GeneID:28579 RSS_nonamer -chr7_KI270803v1_alt 409032 409039 misc_recomb: TRBV10-2 0 + 409032 409039 160,82,45 recombination_feature RSS_heptamer 28584|GeneID:28584 RSS_heptamer -chr7_KI270803v1_alt 409039 409062 misc_recomb: TRBV10-2 0 + 409039 409062 160,82,45 recombination_feature RSS_spacer 28584|GeneID:28584 RSS_spacer -chr7_KI270803v1_alt 409062 409071 misc_recomb: TRBV10-2 0 + 409062 409071 160,82,45 recombination_feature RSS_nonamer 28584|GeneID:28584 RSS_nonamer -chr7_KI270803v1_alt 417973 417980 misc_recomb: TRBV11-2 0 + 417973 417980 160,82,45 recombination_feature RSS_heptamer 28581|GeneID:28581 RSS_heptamer -chr7_KI270803v1_alt 417980 418003 misc_recomb: TRBV11-2 0 + 417980 418003 160,82,45 recombination_feature RSS_spacer 28581|GeneID:28581 RSS_spacer -chr7_KI270803v1_alt 418003 418012 misc_recomb: TRBV11-2 0 + 418003 418012 160,82,45 recombination_feature RSS_nonamer 28581|GeneID:28581 RSS_nonamer -chr7_KI270803v1_alt 424905 424912 misc_recomb: TRBV12-2 0 + 424905 424912 160,82,45 recombination_feature RSS_heptamer 28578|GeneID:28578 RSS_heptamer -chr7_KI270803v1_alt 424912 424935 misc_recomb: TRBV12-2 0 + 424912 424935 160,82,45 recombination_feature RSS_spacer 28578|GeneID:28578 RSS_spacer -chr7_KI270803v1_alt 424935 424944 misc_recomb: TRBV12-2 0 + 424935 424944 160,82,45 recombination_feature RSS_nonamer 28578|GeneID:28578 RSS_nonamer -chr7_KI270803v1_alt 435028 435035 misc_recomb: TRBV6-5 0 + 435028 435035 160,82,45 recombination_feature RSS_heptamer 28602|GeneID:28602 RSS_heptamer -chr7_KI270803v1_alt 435035 435058 misc_recomb: TRBV6-5 0 + 435035 435058 160,82,45 recombination_feature RSS_spacer 28602|GeneID:28602 RSS_spacer -chr7_KI270803v1_alt 435058 435067 misc_recomb: TRBV6-5 0 + 435058 435067 160,82,45 recombination_feature RSS_nonamer 28602|GeneID:28602 RSS_nonamer -chr7_KI270803v1_alt 439214 439221 misc_recomb: TRBV7-4 0 + 439214 439221 160,82,45 recombination_feature RSS_heptamer 28594|GeneID:28594 RSS_heptamer -chr7_KI270803v1_alt 439221 439244 misc_recomb: TRBV7-4 0 + 439221 439244 160,82,45 recombination_feature RSS_spacer 28594|GeneID:28594 RSS_spacer -chr7_KI270803v1_alt 439244 439253 misc_recomb: TRBV7-4 0 + 439244 439253 160,82,45 recombination_feature RSS_nonamer 28594|GeneID:28594 RSS_nonamer -chr7_KI270803v1_alt 447163 447170 misc_recomb: TRBV5-4 0 + 447163 447170 160,82,45 recombination_feature RSS_heptamer 28611|GeneID:28611 RSS_heptamer -chr7_KI270803v1_alt 447170 447193 misc_recomb: TRBV5-4 0 + 447170 447193 160,82,45 recombination_feature RSS_spacer 28611|GeneID:28611 RSS_spacer -chr7_KI270803v1_alt 447193 447202 misc_recomb: TRBV5-4 0 + 447193 447202 160,82,45 recombination_feature RSS_nonamer 28611|GeneID:28611 RSS_nonamer -chr7_KI270803v1_alt 453612 453619 misc_recomb: TRBV6-6 0 + 453612 453619 160,82,45 recombination_feature RSS_heptamer 28601|GeneID:28601 RSS_heptamer -chr7_KI270803v1_alt 453619 453642 misc_recomb: TRBV6-6 0 + 453619 453642 160,82,45 recombination_feature RSS_spacer 28601|GeneID:28601 RSS_spacer -chr7_KI270803v1_alt 453642 453651 misc_recomb: TRBV6-6 0 + 453642 453651 160,82,45 recombination_feature RSS_nonamer 28601|GeneID:28601 RSS_nonamer -chr7_KI270803v1_alt 458166 458173 misc_recomb: TRBV7-5 0 + 458166 458173 160,82,45 recombination_feature RSS_heptamer 28593|GeneID:28593 RSS_heptamer -chr7_KI270803v1_alt 458173 458196 misc_recomb: TRBV7-5 0 + 458173 458196 160,82,45 recombination_feature RSS_spacer 28593|GeneID:28593 RSS_spacer -chr7_KI270803v1_alt 458196 458205 misc_recomb: TRBV7-5 0 + 458196 458205 160,82,45 recombination_feature RSS_nonamer 28593|GeneID:28593 RSS_nonamer -chr7_KI270803v1_alt 466615 466622 misc_recomb: TRBV5-5 0 + 466615 466622 160,82,45 recombination_feature RSS_heptamer 28610|GeneID:28610 RSS_heptamer -chr7_KI270803v1_alt 466622 466645 misc_recomb: TRBV5-5 0 + 466622 466645 160,82,45 recombination_feature RSS_spacer 28610|GeneID:28610 RSS_spacer -chr7_KI270803v1_alt 466645 466654 misc_recomb: TRBV5-5 0 + 466645 466654 160,82,45 recombination_feature RSS_nonamer 28610|GeneID:28610 RSS_nonamer -chr7_KI270803v1_alt 471891 471898 misc_recomb: TRBV6-7 0 + 471891 471898 160,82,45 recombination_feature RSS_heptamer 28600|GeneID:28600 RSS_heptamer -chr7_KI270803v1_alt 471898 471921 misc_recomb: TRBV6-7 0 + 471898 471921 160,82,45 recombination_feature RSS_spacer 28600|GeneID:28600 RSS_spacer -chr7_KI270803v1_alt 471921 471930 misc_recomb: TRBV6-7 0 + 471921 471930 160,82,45 recombination_feature RSS_nonamer 28600|GeneID:28600 RSS_nonamer -chr7_KI270803v1_alt 476265 476272 misc_recomb: TRBV7-6 0 + 476265 476272 160,82,45 recombination_feature RSS_heptamer 28592|GeneID:28592 RSS_heptamer -chr7_KI270803v1_alt 476272 476295 misc_recomb: TRBV7-6 0 + 476272 476295 160,82,45 recombination_feature RSS_spacer 28592|GeneID:28592 RSS_spacer -chr7_KI270803v1_alt 476295 476304 misc_recomb: TRBV7-6 0 + 476295 476304 160,82,45 recombination_feature RSS_nonamer 28592|GeneID:28592 RSS_nonamer -chr7_KI270803v1_alt 484131 484138 misc_recomb: TRBV5-6 0 + 484131 484138 160,82,45 recombination_feature RSS_heptamer 28609|GeneID:28609 RSS_heptamer -chr7_KI270803v1_alt 484138 484161 misc_recomb: TRBV5-6 0 + 484138 484161 160,82,45 recombination_feature RSS_spacer 28609|GeneID:28609 RSS_spacer -chr7_KI270803v1_alt 484161 484170 misc_recomb: TRBV5-6 0 + 484161 484170 160,82,45 recombination_feature RSS_nonamer 28609|GeneID:28609 RSS_nonamer -chr7_KI270803v1_alt 491406 491413 misc_recomb: TRBV6-8 0 + 491406 491413 160,82,45 recombination_feature RSS_heptamer 28599|GeneID:28599 RSS_heptamer -chr7_KI270803v1_alt 491413 491436 misc_recomb: TRBV6-8 0 + 491413 491436 160,82,45 recombination_feature RSS_spacer 28599|GeneID:28599 RSS_spacer -chr7_KI270803v1_alt 491436 491445 misc_recomb: TRBV6-8 0 + 491436 491445 160,82,45 recombination_feature RSS_nonamer 28599|GeneID:28599 RSS_nonamer -chr7_KI270803v1_alt 495723 495730 misc_recomb: TRBV7-7 0 + 495723 495730 160,82,45 recombination_feature RSS_heptamer 28591|GeneID:28591 RSS_heptamer -chr7_KI270803v1_alt 495730 495753 misc_recomb: TRBV7-7 0 + 495730 495753 160,82,45 recombination_feature RSS_spacer 28591|GeneID:28591 RSS_spacer -chr7_KI270803v1_alt 495753 495762 misc_recomb: TRBV7-7 0 + 495753 495762 160,82,45 recombination_feature RSS_nonamer 28591|GeneID:28591 RSS_nonamer -chr7_KI270803v1_alt 504150 504157 misc_recomb: TRBV5-7 0 + 504150 504157 160,82,45 recombination_feature RSS_heptamer 28608|GeneID:28608 RSS_heptamer -chr7_KI270803v1_alt 504157 504180 misc_recomb: TRBV5-7 0 + 504157 504180 160,82,45 recombination_feature RSS_spacer 28608|GeneID:28608 RSS_spacer -chr7_KI270803v1_alt 504180 504189 misc_recomb: TRBV5-7 0 + 504180 504189 160,82,45 recombination_feature RSS_nonamer 28608|GeneID:28608 RSS_nonamer -chr7_KI270803v1_alt 511422 511429 misc_recomb: TRBV6-9 0 + 511422 511429 160,82,45 recombination_feature RSS_heptamer 28598|GeneID:28598 RSS_heptamer -chr7_KI270803v1_alt 511429 511452 misc_recomb: TRBV6-9 0 + 511429 511452 160,82,45 recombination_feature RSS_spacer 28598|GeneID:28598 RSS_spacer -chr7_KI270803v1_alt 511452 511461 misc_recomb: TRBV6-9 0 + 511452 511461 160,82,45 recombination_feature RSS_nonamer 28598|GeneID:28598 RSS_nonamer -chr7_KI270803v1_alt 516088 516095 misc_recomb: TRBV7-8 0 + 516088 516095 160,82,45 recombination_feature RSS_heptamer 28590|GeneID:28590 RSS_heptamer -chr7_KI270803v1_alt 516095 516118 misc_recomb: TRBV7-8 0 + 516095 516118 160,82,45 recombination_feature RSS_spacer 28590|GeneID:28590 RSS_spacer -chr7_KI270803v1_alt 516118 516127 misc_recomb: TRBV7-8 0 + 516118 516127 160,82,45 recombination_feature RSS_nonamer 28590|GeneID:28590 RSS_nonamer -chr7_KI270803v1_alt 524288 524295 misc_recomb: TRBV5-8 0 + 524288 524295 160,82,45 recombination_feature RSS_heptamer 28607|GeneID:28607 RSS_heptamer -chr7_KI270803v1_alt 524295 524318 misc_recomb: TRBV5-8 0 + 524295 524318 160,82,45 recombination_feature RSS_spacer 28607|GeneID:28607 RSS_spacer -chr7_KI270803v1_alt 524318 524327 misc_recomb: TRBV5-8 0 + 524318 524327 160,82,45 recombination_feature RSS_nonamer 28607|GeneID:28607 RSS_nonamer -chr7_KI270803v1_alt 533495 533502 misc_recomb: TRBV7-9 0 + 533495 533502 160,82,45 recombination_feature RSS_heptamer 28589|GeneID:28589 RSS_heptamer -chr7_KI270803v1_alt 533502 533525 misc_recomb: TRBV7-9 0 + 533502 533525 160,82,45 recombination_feature RSS_spacer 28589|GeneID:28589 RSS_spacer -chr7_KI270803v1_alt 533525 533534 misc_recomb: TRBV7-9 0 + 533525 533534 160,82,45 recombination_feature RSS_nonamer 28589|GeneID:28589 RSS_nonamer -chr7_KI270803v1_alt 540023 540029 misc_recomb: TRBV13 0 + 540023 540029 160,82,45 recombination_feature RSS_heptamer 28574|GeneID:28574 RSS_heptamer -chr7_KI270803v1_alt 540029 540052 misc_recomb: TRBV13 0 + 540029 540052 160,82,45 recombination_feature RSS_spacer 28574|GeneID:28574 RSS_spacer -chr7_KI270803v1_alt 540052 540061 misc_recomb: TRBV13 0 + 540052 540061 160,82,45 recombination_feature RSS_nonamer 28574|GeneID:28574 RSS_nonamer -chr7_KI270803v1_alt 548396 548403 misc_recomb: TRBV10-3 0 + 548396 548403 160,82,45 recombination_feature RSS_heptamer 28583|GeneID:28583 RSS_heptamer -chr7_KI270803v1_alt 548403 548426 misc_recomb: TRBV10-3 0 + 548403 548426 160,82,45 recombination_feature RSS_spacer 28583|GeneID:28583 RSS_spacer -chr7_KI270803v1_alt 548426 548435 misc_recomb: TRBV10-3 0 + 548426 548435 160,82,45 recombination_feature RSS_nonamer 28583|GeneID:28583 RSS_nonamer -chr7_KI270803v1_alt 559027 559034 misc_recomb: TRBV11-3 0 + 559027 559034 160,82,45 recombination_feature RSS_heptamer 28580|GeneID:28580 RSS_heptamer -chr7_KI270803v1_alt 559034 559057 misc_recomb: TRBV11-3 0 + 559034 559057 160,82,45 recombination_feature RSS_spacer 28580|GeneID:28580 RSS_spacer -chr7_KI270803v1_alt 559057 559066 misc_recomb: TRBV11-3 0 + 559057 559066 160,82,45 recombination_feature RSS_nonamer 28580|GeneID:28580 RSS_nonamer -chr7_KI270803v1_alt 564623 564630 misc_recomb: TRBV12-3 0 + 564623 564630 160,82,45 recombination_feature RSS_heptamer 28577|GeneID:28577 RSS_heptamer -chr7_KI270803v1_alt 564630 564653 misc_recomb: TRBV12-3 0 + 564630 564653 160,82,45 recombination_feature RSS_spacer 28577|GeneID:28577 RSS_spacer -chr7_KI270803v1_alt 564653 564662 misc_recomb: TRBV12-3 0 + 564653 564662 160,82,45 recombination_feature RSS_nonamer 28577|GeneID:28577 RSS_nonamer -chr7_KI270803v1_alt 567934 567941 misc_recomb: TRBV12-4 0 + 567934 567941 160,82,45 recombination_feature RSS_heptamer 28576|GeneID:28576 RSS_heptamer -chr7_KI270803v1_alt 567941 567964 misc_recomb: TRBV12-4 0 + 567941 567964 160,82,45 recombination_feature RSS_spacer 28576|GeneID:28576 RSS_spacer -chr7_KI270803v1_alt 567964 567973 misc_recomb: TRBV12-4 0 + 567964 567973 160,82,45 recombination_feature RSS_nonamer 28576|GeneID:28576 RSS_nonamer -chr7_KI270803v1_alt 585145 585152 misc_recomb: TRBV12-5 0 + 585145 585152 160,82,45 recombination_feature RSS_heptamer 28575|GeneID:28575 RSS_heptamer -chr7_KI270803v1_alt 585152 585175 misc_recomb: TRBV12-5 0 + 585152 585175 160,82,45 recombination_feature RSS_spacer 28575|GeneID:28575 RSS_spacer -chr7_KI270803v1_alt 585175 585184 misc_recomb: TRBV12-5 0 + 585175 585184 160,82,45 recombination_feature RSS_nonamer 28575|GeneID:28575 RSS_nonamer -chr7_KI270803v1_alt 592075 592082 misc_recomb: TRBV14 0 + 592075 592082 160,82,45 recombination_feature RSS_heptamer 28573|GeneID:28573 RSS_heptamer -chr7_KI270803v1_alt 592082 592105 misc_recomb: TRBV14 0 + 592082 592105 160,82,45 recombination_feature RSS_spacer 28573|GeneID:28573 RSS_spacer -chr7_KI270803v1_alt 592105 592114 misc_recomb: TRBV14 0 + 592105 592114 160,82,45 recombination_feature RSS_nonamer 28573|GeneID:28573 RSS_nonamer -chr7_KI270803v1_alt 597189 597196 misc_recomb: TRBV15 0 + 597189 597196 160,82,45 recombination_feature RSS_heptamer 28572|GeneID:28572 RSS_heptamer -chr7_KI270803v1_alt 597196 597219 misc_recomb: TRBV15 0 + 597196 597219 160,82,45 recombination_feature RSS_spacer 28572|GeneID:28572 RSS_spacer -chr7_KI270803v1_alt 597219 597228 misc_recomb: TRBV15 0 + 597219 597228 160,82,45 recombination_feature RSS_nonamer 28572|GeneID:28572 RSS_nonamer -chr7_KI270803v1_alt 601987 601988 variation - t at this position converts a stop into tyrosine. 0 + 601987 601988 192,0,192 sequence_feature variation - t at this position converts a stop into tyrosine. 28571|GeneID:28571 variation - t at this position converts a stop into tyrosine. -chr7_KI270803v1_alt 602185 602192 misc_recomb: TRBV16 0 + 602185 602192 160,82,45 recombination_feature RSS_heptamer 28571|GeneID:28571 RSS_heptamer -chr7_KI270803v1_alt 602192 602215 misc_recomb: TRBV16 0 + 602192 602215 160,82,45 recombination_feature RSS_spacer 28571|GeneID:28571 RSS_spacer -chr7_KI270803v1_alt 602215 602224 misc_recomb: TRBV16 0 + 602215 602224 160,82,45 recombination_feature RSS_nonamer 28571|GeneID:28571 RSS_nonamer -chr7_KI270803v1_alt 606074 606081 misc_recomb: TRBV17 0 + 606074 606081 160,82,45 recombination_feature RSS_heptamer 28570|GeneID:28570 RSS_heptamer -chr7_KI270803v1_alt 606081 606104 misc_recomb: TRBV17 0 + 606081 606104 160,82,45 recombination_feature RSS_spacer 28570|GeneID:28570 RSS_spacer -chr7_KI270803v1_alt 606104 606113 misc_recomb: TRBV17 0 + 606104 606113 160,82,45 recombination_feature RSS_nonamer 28570|GeneID:28570 RSS_nonamer -chr7_KI270803v1_alt 620078 620085 misc_recomb: TRBV18 0 + 620078 620085 160,82,45 recombination_feature RSS_heptamer 28569|GeneID:28569 RSS_heptamer -chr7_KI270803v1_alt 620085 620108 misc_recomb: TRBV18 0 + 620085 620108 160,82,45 recombination_feature RSS_spacer 28569|GeneID:28569 RSS_spacer -chr7_KI270803v1_alt 620108 620117 misc_recomb: TRBV18 0 + 620108 620117 160,82,45 recombination_feature RSS_nonamer 28569|GeneID:28569 RSS_nonamer -chr7_KI270803v1_alt 623195 623202 misc_recomb: TRBV19 0 + 623195 623202 160,82,45 recombination_feature RSS_heptamer 28568|GeneID:28568 RSS_heptamer -chr7_KI270803v1_alt 623202 623225 misc_recomb: TRBV19 0 + 623202 623225 160,82,45 recombination_feature RSS_spacer 28568|GeneID:28568 RSS_spacer -chr7_KI270803v1_alt 623225 623234 misc_recomb: TRBV19 0 + 623225 623234 160,82,45 recombination_feature RSS_nonamer 28568|GeneID:28568 RSS_nonamer -chr7_KI270803v1_alt 631061 631068 misc_recomb: TRBV20-1 0 + 631061 631068 160,82,45 recombination_feature RSS_heptamer 28567|GeneID:28567 RSS_heptamer -chr7_KI270803v1_alt 631068 631091 misc_recomb: TRBV20-1 0 + 631068 631091 160,82,45 recombination_feature RSS_spacer 28567|GeneID:28567 RSS_spacer -chr7_KI270803v1_alt 631091 631100 misc_recomb: TRBV20-1 0 + 631091 631100 160,82,45 recombination_feature RSS_nonamer 28567|GeneID:28567 RSS_nonamer -chr7_KI270803v1_alt 641032 641039 misc_recomb: TRBV21-1 0 + 641032 641039 160,82,45 recombination_feature RSS_heptamer 6957|GeneID:6957 RSS_heptamer -chr7_KI270803v1_alt 641039 641062 misc_recomb: TRBV21-1 0 + 641039 641062 160,82,45 recombination_feature RSS_spacer 28566|GeneID:28566 RSS_spacer -chr7_KI270803v1_alt 641062 641071 misc_recomb: TRBV21-1 0 + 641062 641071 160,82,45 recombination_feature RSS_nonamer 28566|GeneID:28566 RSS_nonamer -chr7_KI270803v1_alt 645844 645851 misc_recomb: TRBV22-1 0 + 645844 645851 160,82,45 recombination_feature RSS_heptamer 28565|GeneID:28565 RSS_heptamer -chr7_KI270803v1_alt 645851 645874 misc_recomb: TRBV22-1 0 + 645851 645874 160,82,45 recombination_feature RSS_spacer 28565|GeneID:28565 RSS_spacer -chr7_KI270803v1_alt 645874 645883 misc_recomb: TRBV22-1 0 + 645874 645883 160,82,45 recombination_feature RSS_nonamer 28565|GeneID:28565 RSS_nonamer -chr7_KI270803v1_alt 650109 650116 misc_recomb: TRBV23-1 0 + 650109 650116 160,82,45 recombination_feature RSS_heptamer 6957|GeneID:6957 RSS_heptamer -chr7_KI270803v1_alt 650116 650139 misc_recomb: TRBV23-1 0 + 650116 650139 160,82,45 recombination_feature RSS_spacer 28564|GeneID:28564 RSS_spacer -chr7_KI270803v1_alt 650139 650148 misc_recomb: TRBV23-1 0 + 650139 650148 160,82,45 recombination_feature RSS_nonamer 28564|GeneID:28564 RSS_nonamer -chr7_KI270803v1_alt 659430 659437 misc_recomb: TRBV24-1 0 + 659430 659437 160,82,45 recombination_feature RSS_heptamer 28563|GeneID:28563 RSS_heptamer -chr7_KI270803v1_alt 659437 659460 misc_recomb: TRBV24-1 0 + 659437 659460 160,82,45 recombination_feature RSS_spacer 28563|GeneID:28563 RSS_spacer -chr7_KI270803v1_alt 659460 659469 misc_recomb: TRBV24-1 0 + 659460 659469 160,82,45 recombination_feature RSS_nonamer 28563|GeneID:28563 RSS_nonamer -chr7_KI270803v1_alt 673797 673804 misc_recomb: TRBV25-1 0 + 673797 673804 160,82,45 recombination_feature RSS_heptamer 28562|GeneID:28562 RSS_heptamer -chr7_KI270803v1_alt 673804 673827 misc_recomb: TRBV25-1 0 + 673804 673827 160,82,45 recombination_feature RSS_spacer 28562|GeneID:28562 RSS_spacer -chr7_KI270803v1_alt 673827 673836 misc_recomb: TRBV25-1 0 + 673827 673836 160,82,45 recombination_feature RSS_nonamer 28562|GeneID:28562 RSS_nonamer -chr7_KI270803v1_alt 684410 684417 misc_recomb: TRBVA 0 + 684410 684417 160,82,45 recombination_feature RSS_heptamer 28556|GeneID:28556 RSS_heptamer -chr7_KI270803v1_alt 684417 684440 misc_recomb: TRBVA 0 + 684417 684440 160,82,45 recombination_feature RSS_spacer 28556|GeneID:28556 RSS_spacer -chr7_KI270803v1_alt 684440 684449 misc_recomb: TRBVA 0 + 684440 684449 160,82,45 recombination_feature RSS_nonamer 28556|GeneID:28556 RSS_nonamer -chr7_KI270803v1_alt 698733 698740 misc_recomb: TRBV26 0 + 698733 698740 160,82,45 recombination_feature RSS_heptamer 28561|GeneID:28561 RSS_heptamer -chr7_KI270803v1_alt 698740 698763 misc_recomb: TRBV26 0 + 698740 698763 160,82,45 recombination_feature RSS_spacer 28561|GeneID:28561 RSS_spacer -chr7_KI270803v1_alt 698763 698772 misc_recomb: TRBV26 0 + 698763 698772 160,82,45 recombination_feature RSS_nonamer 28561|GeneID:28561 RSS_nonamer -chr7_KI270803v1_alt 714505 714512 misc_recomb: TRBVB 0 + 714505 714512 160,82,45 recombination_feature RSS_heptamer 28555|GeneID:28555 RSS_heptamer -chr7_KI270803v1_alt 718443 718450 misc_recomb: TRBV27 0 + 718443 718450 160,82,45 recombination_feature RSS_heptamer 28560|GeneID:28560 RSS_heptamer -chr7_KI270803v1_alt 718450 718473 misc_recomb: TRBV27 0 + 718450 718473 160,82,45 recombination_feature RSS_spacer 28560|GeneID:28560 RSS_spacer -chr7_KI270803v1_alt 718473 718482 misc_recomb: TRBV27 0 + 718473 718482 160,82,45 recombination_feature RSS_nonamer 28560|GeneID:28560 RSS_nonamer -chr7_KI270803v1_alt 723742 723749 misc_recomb: TRBV28 0 + 723742 723749 160,82,45 recombination_feature RSS_heptamer 28559|GeneID:28559 RSS_heptamer -chr7_KI270803v1_alt 723749 723772 misc_recomb: TRBV28 0 + 723749 723772 160,82,45 recombination_feature RSS_spacer 28559|GeneID:28559 RSS_spacer -chr7_KI270803v1_alt 723772 723781 misc_recomb: TRBV28 0 + 723772 723781 160,82,45 recombination_feature RSS_nonamer 28559|GeneID:28559 RSS_nonamer -chr7_KI270803v1_alt 743487 743494 misc_recomb: TRBV29-1 0 + 743487 743494 160,82,45 recombination_feature RSS_heptamer 28558|GeneID:28558 RSS_heptamer -chr7_KI270803v1_alt 743494 743517 misc_recomb: TRBV29-1 0 + 743494 743517 160,82,45 recombination_feature RSS_spacer 28558|GeneID:28558 RSS_spacer -chr7_KI270803v1_alt 743517 743526 misc_recomb: TRBV29-1 0 + 743517 743526 160,82,45 recombination_feature RSS_nonamer 28558|GeneID:28558 RSS_nonamer -chr7_KI270803v1_alt 809157 809166 misc_recomb: TRBD1 0 + 809157 809166 160,82,45 recombination_feature 5'D_nonamer 28637|GeneID:28637 5'D_nonamer -chr7_KI270803v1_alt 809166 809178 misc_recomb: TRBD1 0 + 809166 809178 160,82,45 recombination_feature 5'D_spacer 28637|GeneID:28637 5'D_spacer -chr7_KI270803v1_alt 809178 809185 misc_recomb: TRBD1 0 + 809178 809185 160,82,45 recombination_feature 5'D_heptamer 28637|GeneID:28637 5'D_heptamer -chr7_KI270803v1_alt 809197 809204 misc_recomb: TRBD1 0 + 809197 809204 160,82,45 recombination_feature 3'D_heptamer 28637|GeneID:28637 3'D_heptamer -chr7_KI270803v1_alt 809204 809227 misc_recomb: TRBD1 0 + 809204 809227 160,82,45 recombination_feature 3'D_spacer 28637|GeneID:28637 3'D_spacer -chr7_KI270803v1_alt 809227 809236 misc_recomb: TRBD1 0 + 809227 809236 160,82,45 recombination_feature 3'D_nonamer 28637|GeneID:28637 3'D_nonamer -chr7_KI270803v1_alt 809824 809833 misc_recomb: TRBJ1-1 0 + 809824 809833 160,82,45 recombination_feature J_nonamer 28635|GeneID:28635 J_nonamer -chr7_KI270803v1_alt 809833 809845 misc_recomb: TRBJ1-1 0 + 809833 809845 160,82,45 recombination_feature J_spacer 28635|GeneID:28635 J_spacer -chr7_KI270803v1_alt 809845 809852 misc_recomb: TRBJ1-1 0 + 809845 809852 160,82,45 recombination_feature J_heptamer 28635|GeneID:28635 J_heptamer -chr7_KI270803v1_alt 809961 809970 misc_recomb: TRBJ1-2 0 + 809961 809970 160,82,45 recombination_feature J_nonamer 28634|GeneID:28634 J_nonamer -chr7_KI270803v1_alt 809970 809982 misc_recomb: TRBJ1-2 0 + 809970 809982 160,82,45 recombination_feature J_spacer 28634|GeneID:28634 J_spacer -chr7_KI270803v1_alt 809982 809989 misc_recomb: TRBJ1-2 0 + 809982 809989 160,82,45 recombination_feature J_heptamer 28634|GeneID:28634 J_heptamer -chr7_KI270803v1_alt 810574 810583 misc_recomb: TRBJ1-3 0 + 810574 810583 160,82,45 recombination_feature J_nonamer 28633|GeneID:28633 J_nonamer -chr7_KI270803v1_alt 810583 810595 misc_recomb: TRBJ1-3 0 + 810583 810595 160,82,45 recombination_feature J_spacer 28633|GeneID:28633 J_spacer -chr7_KI270803v1_alt 810595 810602 misc_recomb: TRBJ1-3 0 + 810595 810602 160,82,45 recombination_feature J_heptamer 28633|GeneID:28633 J_heptamer -chr7_KI270803v1_alt 811169 811178 misc_recomb: TRBJ1-4 0 + 811169 811178 160,82,45 recombination_feature J_nonamer 28632|GeneID:28632 J_nonamer -chr7_KI270803v1_alt 811178 811190 misc_recomb: TRBJ1-4 0 + 811178 811190 160,82,45 recombination_feature J_spacer 28632|GeneID:28632 J_spacer -chr7_KI270803v1_alt 811190 811197 misc_recomb: TRBJ1-4 0 + 811190 811197 160,82,45 recombination_feature J_heptamer 28632|GeneID:28632 J_heptamer -chr7_KI270803v1_alt 811442 811451 misc_recomb: TRBJ1-5 0 + 811442 811451 160,82,45 recombination_feature J_nonamer 28631|GeneID:28631 J_nonamer -chr7_KI270803v1_alt 811451 811463 misc_recomb: TRBJ1-5 0 + 811451 811463 160,82,45 recombination_feature J_spacer 28631|GeneID:28631 J_spacer -chr7_KI270803v1_alt 811463 811470 misc_recomb: TRBJ1-5 0 + 811463 811470 160,82,45 recombination_feature J_heptamer 28631|GeneID:28631 J_heptamer -chr7_KI270803v1_alt 811932 811941 misc_recomb: TRBJ1-6 0 + 811932 811941 160,82,45 recombination_feature J_nonamer 28630|GeneID:28630 J_nonamer -chr7_KI270803v1_alt 811941 811953 misc_recomb: TRBJ1-6 0 + 811941 811953 160,82,45 recombination_feature J_spacer 28630|GeneID:28630 J_spacer -chr7_KI270803v1_alt 811953 811960 misc_recomb: TRBJ1-6 0 + 811953 811960 160,82,45 recombination_feature J_heptamer 28630|GeneID:28630 J_heptamer -chr7_KI270803v1_alt 818649 818658 misc_recomb: TRBD2 0 + 818649 818658 160,82,45 recombination_feature 5'D_nonamer 28636|GeneID:28636 5'D_nonamer -chr7_KI270803v1_alt 818658 818670 misc_recomb: TRBD2 0 + 818658 818670 160,82,45 recombination_feature 5'D_spacer 28636|GeneID:28636 5'D_spacer -chr7_KI270803v1_alt 818670 818677 misc_recomb: TRBD2 0 + 818670 818677 160,82,45 recombination_feature 5'D_heptamer 28636|GeneID:28636 5'D_heptamer -chr7_KI270803v1_alt 818693 818700 misc_recomb: TRBD2 0 + 818693 818700 160,82,45 recombination_feature 3'D_heptamer 28636|GeneID:28636 3'D_heptamer -chr7_KI270803v1_alt 818700 818723 misc_recomb: TRBD2 0 + 818700 818723 160,82,45 recombination_feature 3'D_spacer 28636|GeneID:28636 3'D_spacer -chr7_KI270803v1_alt 818723 818732 misc_recomb: TRBD2 0 + 818723 818732 160,82,45 recombination_feature 3'D_nonamer 28636|GeneID:28636 3'D_nonamer -chr7_KI270803v1_alt 819309 819318 misc_recomb: TRBJ2-1 0 + 819309 819318 160,82,45 recombination_feature J_nonamer 28629|GeneID:28629 J_nonamer -chr7_KI270803v1_alt 819318 819330 misc_recomb: TRBJ2-1 0 + 819318 819330 160,82,45 recombination_feature J_spacer 28629|GeneID:28629 J_spacer -chr7_KI270803v1_alt 819330 819337 misc_recomb: TRBJ2-1 0 + 819330 819337 160,82,45 recombination_feature J_heptamer 28629|GeneID:28629 J_heptamer -chr7_KI270803v1_alt 819504 819513 misc_recomb: TRBJ2-2 0 + 819504 819513 160,82,45 recombination_feature J_nonamer 28628|GeneID:28628 J_nonamer -chr7_KI270803v1_alt 819513 819525 misc_recomb: TRBJ2-2 0 + 819513 819525 160,82,45 recombination_feature J_spacer 28628|GeneID:28628 J_spacer -chr7_KI270803v1_alt 819525 819532 misc_recomb: TRBJ2-2 0 + 819525 819532 160,82,45 recombination_feature J_heptamer 28628|GeneID:28628 J_heptamer -chr7_KI270803v1_alt 819662 819669 misc_recomb: TRBJ2-2P 0 + 819662 819669 160,82,45 recombination_feature J_heptamer 28627|GeneID:28627 J_heptamer -chr7_KI270803v1_alt 819791 819800 misc_recomb: TRBJ2-3 0 + 819791 819800 160,82,45 recombination_feature J_nonamer 28626|GeneID:28626 J_nonamer -chr7_KI270803v1_alt 819800 819812 misc_recomb: TRBJ2-3 0 + 819800 819812 160,82,45 recombination_feature J_spacer 28626|GeneID:28626 J_spacer -chr7_KI270803v1_alt 819812 819819 misc_recomb: TRBJ2-3 0 + 819812 819819 160,82,45 recombination_feature J_heptamer 28626|GeneID:28626 J_heptamer -chr7_KI270803v1_alt 819942 819949 misc_recomb: TRBJ2-4 0 + 819942 819949 160,82,45 recombination_feature J_nonamer 28625|GeneID:28625 J_nonamer -chr7_KI270803v1_alt 819949 819963 misc_recomb: TRBJ2-4 0 + 819949 819963 160,82,45 recombination_feature J_spacer 28625|GeneID:28625 J_spacer -chr7_KI270803v1_alt 819963 819970 misc_recomb: TRBJ2-4 0 + 819963 819970 160,82,45 recombination_feature J_heptamer 28625|GeneID:28625 J_heptamer -chr7_KI270803v1_alt 820063 820072 misc_recomb: TRBJ2-5 0 + 820063 820072 160,82,45 recombination_feature RSS_nonamer 28624|GeneID:28624 RSS_nonamer -chr7_KI270803v1_alt 820072 820084 misc_recomb: TRBJ2-5 0 + 820072 820084 160,82,45 recombination_feature RSS_spacer 28624|GeneID:28624 RSS_spacer -chr7_KI270803v1_alt 820084 820091 misc_recomb: TRBJ2-5 0 + 820084 820091 160,82,45 recombination_feature RSS_heptamer 28624|GeneID:28624 RSS_heptamer -chr7_KI270803v1_alt 820183 820192 misc_recomb: TRBJ2-6 0 + 820183 820192 160,82,45 recombination_feature J_nonamer 6957|GeneID:6957 J_nonamer -chr7_KI270803v1_alt 820192 820204 misc_recomb: TRBJ2-6 0 + 820192 820204 160,82,45 recombination_feature J_spacer 6957|GeneID:6957 J_spacer -chr7_KI270803v1_alt 820204 820211 misc_recomb: TRBJ2-6 0 + 820204 820211 160,82,45 recombination_feature J_heptamer 6957|GeneID:6957 J_heptamer -chr7_KI270803v1_alt 820400 820409 misc_recomb: TRBJ2-7 0 + 820400 820409 160,82,45 recombination_feature J_nonamer 28622|GeneID:28622 J_nonamer -chr7_KI270803v1_alt 820409 820421 misc_recomb: TRBJ2-7 0 + 820409 820421 160,82,45 recombination_feature J_spacer 28622|GeneID:28622 J_spacer -chr7_KI270803v1_alt 820421 820428 misc_recomb: TRBJ2-7 0 + 820421 820428 160,82,45 recombination_feature J_heptamer 28622|GeneID:28622 J_heptamer -chr7_KI270803v1_alt 835519 835528 misc_recomb: TRBV30 0 - 835519 835528 160,82,45 recombination_feature RSS_nonamer 28557|GeneID:28557 RSS_nonamer -chr7_KI270803v1_alt 835528 835551 misc_recomb: TRBV30 0 - 835528 835551 160,82,45 recombination_feature RSS_spacer 28557|GeneID:28557 RSS_spacer -chr7_KI270803v1_alt 835551 835558 misc_recomb: TRBV30 0 - 835551 835558 160,82,45 recombination_feature RSS_heptamer 28557|GeneID:28557 RSS_heptamer -chr7_KI270809v1_alt 113658 114026 non_allelic_homologous 0 + 113658 114026 160,82,45 recombination_feature patient 6 and 8 7q11.23 distal NAHR recombination breakpoint sub-region, recombines with the patient 6 and 8 7q11.23 proximal NAHR recombination breakpoint sub-region within the 7q11.23 proximal recombination region, resulting in a deletion 108228209|GeneID:108228209,100133091|GeneID:100133091 21109226|PMID:21109226 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:21109226] patient 6 and 8 7q11.23 distal NAHR recombination breakpoint sub-region, recombines with the patient 6 and 8 7q11.23 proximal NAHR recombination breakpoint sub-region within the 7q11.23 proximal recombination region, resulting in a deletion -chr8 1701247 1701406 enhancer 0 + 1701247 1701406 0,128,128 enhancer 106783493|GeneID:106783493,9228|GeneID:9228 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr8 4209391 4215703 meiotic 0 + 4209391 4215703 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107522030|GeneID:107522030 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr8 4211447 4215703 meiotic 0 + 4211447 4215703 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107522030|GeneID:107522030 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr8 4212546 4214864 meiotic 0 + 4212546 4214864 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107522030|GeneID:107522030 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr8 4212937 4215537 meiotic 0 + 4212937 4215537 160,82,45 recombination_feature Crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A >> PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles. 107522030|GeneID:107522030 20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382] Crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A >> PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles. -chr8 4213775 4213788 nucleotide_motif 0 + 4213775 4213788 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522030|GeneID:107522030 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 4215293 4215306 nucleotide_motif 0 + 4215293 4215306 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522030|GeneID:107522030 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 10715575 10716781 enhancer 0 + 10715575 10716781 0,128,128 enhancer amplified fragment containing the chr8:10573085-10574291 (GRCh37) conserved CAGE region with expression in endothelial cells, salivary gland, pineal gland and aorta 108348019|GeneID:108348019 24670763|PMID:24670763 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:24670763] drives transgene expression in the vasculature, dorsal vein and dorsal aorta amplified fragment containing the chr8:10573085-10574291 (GRCh37) conserved CAGE region with expression in endothelial cells, salivary gland, pineal gland and aorta | drives transgene expression in the vasculature, dorsal vein and dorsal aorta -chr8 11699805 11703497 enhancer 0 + 11699805 11703497 0,128,128 enhancer VISTA enhancer hs2204 110121280|GeneID:110121280,2626|GeneID:2626 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/14] VISTA enhancer hs2204 | enhancer in: heart[5/14] -chr8 11739274 11744047 enhancer 0 + 11739274 11744047 0,128,128 enhancer VISTA enhancer hs2205 110121281|GeneID:110121281,2626|GeneID:2626 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/7] VISTA enhancer hs2205 | enhancer in: heart[6/7] -chr8 11746672 11747186 enhancer 0 + 11746672 11747186 0,128,128 enhancer VISTA enhancer hs508 110120689|GeneID:110120689,2626|GeneID:2626 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/13] VISTA enhancer hs508 | enhancer in: heart[6/13] -chr8 21987876 21988944 enhancer 0 + 21987876 21988944 0,128,128 enhancer VISTA enhancer hs783 110120770|GeneID:110120770,23039|GeneID:23039 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[4/14] VISTA enhancer hs783 | enhancer in: limb[4/14] -chr8 22043577 22044815 enhancer 0 + 22043577 22044815 0,128,128 enhancer VISTA enhancer hs782 110120769|GeneID:110120769,8822|GeneID:8822 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[10/13] | midbrain (mesencephalon)[10/13] | forebrain[9/13] | tail[6/13] VISTA enhancer hs782 | enhancer in: hindbrain (rhombencephalon)[10/13] | midbrain (mesencephalon)[10/13] | forebrain[9/13] | tail[6/13] -chr8 22049914 22050771 enhancer 0 + 22049914 22050771 0,128,128 enhancer VISTA enhancer hs781 110120768|GeneID:110120768,2039|GeneID:2039 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[10/12] VISTA enhancer hs781 | enhancer in: forebrain[10/12] -chr8 27872518 27873047 enhancer 0 + 27872518 27873047 0,128,128 enhancer amplified fragment containing the chr8:27730121-27730534 (GRCh37) CAGE region 108254664|GeneID:108254664 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing the chr8:27730121-27730534 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr8 27872603 27873017 CAGE_cluster 0 + 27872603 27873017 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254664|GeneID:108254664 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 27894922 27895834 enhancer 0 + 27894922 27895834 0,128,128 enhancer VISTA enhancer hs1741 110121196|GeneID:110121196 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/6] | limb[6/6] | eye[5/6] | nose[5/6] | facial mesenchyme[5/6] VISTA enhancer hs1741 | enhancer in: hindbrain (rhombencephalon)[4/6] | limb[6/6] | eye[5/6] | nose[5/6] | facial mesenchyme[5/6] -chr8 28513349 28514343 enhancer 0 + 28513349 28514343 0,128,128 enhancer VISTA enhancer hs1329 110121062|GeneID:110121062,7976|GeneID:7976 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] | hindbrain (rhombencephalon)[4/7] | midbrain (mesencephalon)[4/7] | forebrain[4/7] VISTA enhancer hs1329 | enhancer in: neural tube[4/7] | hindbrain (rhombencephalon)[4/7] | midbrain (mesencephalon)[4/7] | forebrain[4/7] -chr8 30277525 30281393 enhancer 0 + 30277525 30281393 0,128,128 enhancer VISTA enhancer hs1962 110121233|GeneID:110121233 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[15/17] | melanocytes[7/17] VISTA enhancer hs1962 | enhancer in: heart[15/17] | melanocytes[7/17] -chr8 30412189 30412630 enhancer 0 + 30412189 30412630 0,128,128 enhancer heart enhancer 24 108004525|GeneID:108004525,11030|GeneID:11030 20075146|PMID:20075146 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20075146] enhancer in heart heart enhancer 24 | enhancer in heart -chr8 34033684 34035220 enhancer 0 + 34033684 34035220 0,128,128 enhancer VISTA enhancer hs1715 110121192|GeneID:110121192,105379364|GeneID:105379364 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/6] | dorsal root ganglion[6/6] | trigeminal V (ganglion, cranial)[6/6] | cranial nerve[6/6] VISTA enhancer hs1715 | enhancer in: neural tube[4/6] | dorsal root ganglion[6/6] | trigeminal V (ganglion, cranial)[6/6] | cranial nerve[6/6] -chr8 37100332 37101205 enhancer 0 + 37100332 37101205 0,128,128 enhancer VISTA enhancer hs631 110120721|GeneID:110120721 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] | cranial nerve[7/7] VISTA enhancer hs631 | enhancer in: forebrain[6/7] | cranial nerve[7/7] -chr8 37111043 37111708 enhancer 0 + 37111043 37111708 0,128,128 enhancer amplified fragment containing the chr8:36968600-36968994 (GRCh37) region with regulatory potential 108281187|GeneID:108281187 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing the chr8:36968600-36968994 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr8 37111081 37111476 epigenetically_modified_region 0 + 37111081 37111476 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells 108281187|GeneID:108281187 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications and no CAGE data in HeLa cells -chr8 37392075 37393664 enhancer 0 + 37392075 37393664 0,128,128 enhancer VISTA enhancer hs302 110120654|GeneID:110120654 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[8/11] VISTA enhancer hs302 | enhancer in: limb[8/11] -chr8 37637790 37638686 enhancer 0 + 37637790 37638686 0,128,128 enhancer VISTA enhancer hs834 110120781|GeneID:110120781 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/7] | other[6/7] VISTA enhancer hs834 | enhancer in: limb[6/7] | other[6/7] -chr8 37825571 37827829 enhancer 0 + 37825571 37827829 0,128,128 enhancer VISTA enhancer hs1665 110121182|GeneID:110121182,25960|GeneID:25960 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[5/7] | blood vessels[7/7] VISTA enhancer hs1665 | enhancer in: heart[5/7] | blood vessels[7/7] -chr8 38150924 38152240 promoter 0 + 38150924 38152240 0,128,128 promoter 1.3 kb HindIII fragment 108863620|GeneID:108863620 7547998|PMID:7547998 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:7547998] cyclic AMP responsive promoter 1.3 kb HindIII fragment | cyclic AMP responsive promoter -chr8 38150976 38150981 TATA_box 0 + 38150976 38150981 0,128,128 TATA_box 108863620|GeneID:108863620 16901925|PMID:16901925 COORDINATES:motif similarity evidence [ECO:0000028][PMID:16901925] TATA_box -chr8 38150980 38150999 protein_bind: nuclear receptor subfamily 2 group F member 1 0 + 38150980 38150999 192,0,0 protein_binding_site COUP-TF site; -42 to -24 108863620|GeneID:108863620 16901925|PMID:16901925 EXISTENCE:protein binding evidence [ECO:0000024][PMID:16901925] COUP-TF site; -42 to -24 | nuclear receptor subfamily 2 group F member 1 -chr8 38150984 38150999 protein_bind: nuclear receptor subfamily 0 group B member 1 0 + 38150984 38150999 192,0,0 protein_binding_site DAX1 site; binding may be influenced by polymorphism at SNP rs16887226 (PMID:16901925) 108863620|GeneID:108863620 9384387|PMID:9384387,16901925|PMID:16901925 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9384387, PMID:16901925] represses promoter activity DAX1 site; binding may be influenced by polymorphism at SNP rs16887226 (PMID:16901925) | represses promoter activity | nuclear receptor subfamily 0 group B member 1 -chr8 38150988 38151013 protein_bind: CCAAT/enhancer binding proteins alpha and beta 0 + 38150988 38151013 192,0,0 protein_binding_site CEBP site; -55 to -31 108863620|GeneID:108863620 10473624|PMID:10473624 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10473624] CEBP site; -55 to -31 | CCAAT/enhancer binding proteins alpha and beta -chr8 38150989 38150999 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 38150989 38150999 192,0,0 protein_binding_site SF1 site; -42 to -35 108863620|GeneID:108863620 9188726|PMID:9188726,16901925|PMID:16901925 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9188726, PMID:16901925] positive regulation of promoter activity SF1 site; -42 to -35 | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr8 38151021 38151045 protein_bind: YY1 transcription factor; cAMP responsive element modulator 0 + 38151021 38151045 192,0,0 protein_binding_site -78CRE 108863620|GeneID:108863620 11145563|PMID:11145563,22253417|PMID:22253417 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11145563, PMID:22253417] mediates response to angiotensin II -78CRE | mediates response to angiotensin II | YY1 transcription factor; cAMP responsive element modulator -chr8 38151021 38151047 protein_bind: sterol regulatory element binding transcription factor 1 0 + 38151021 38151047 192,0,0 protein_binding_site SREBP-1a site; -90 to -65 108863620|GeneID:108863620 11145563|PMID:11145563 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11145563] SREBP-1a site; -90 to -65 | sterol regulatory element binding transcription factor 1 -chr8 38151041 38151069 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 38151041 38151069 192,0,0 protein_binding_site SF1 proximal site; -105 to -95 108863620|GeneID:108863620 9188726|PMID:9188726 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9188726] important for induction by angiotensin II and cyclic AMP SF1 proximal site; -105 to -95 | important for induction by angiotensin II and cyclic AMP | nuclear receptor subfamily 5 group A member 1 -chr8 38151045 38151069 protein_bind: nuclear receptor subfamily 5 group A member 2 0 + 38151045 38151069 192,0,0 protein_binding_site LRH-1 site; -111 to -87 108863620|GeneID:108863620 15181096|PMID:15181096 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15181096] positive regulation of promoter activity; antagonized by Nr0b1/Dax1 LRH-1 site; -111 to -87 | positive regulation of promoter activity; antagonized by Nr0b1/Dax1 | nuclear receptor subfamily 5 group A member 2 -chr8 38151061 38151084 protein_bind: CCAAT/enhancer binding proteins alpha and beta; cAMP responsive element binding protein 1 0 + 38151061 38151084 192,0,0 protein_binding_site CEBP site; -140 to -118 108863620|GeneID:108863620 10473624|PMID:10473624,18583320|PMID:18583320 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10473624, PMID:18583320] mediates induction by prostaglandin E2 CEBP site; -140 to -118 | mediates induction by prostaglandin E2 | CCAAT/enhancer binding proteins alpha and beta; cAMP responsive element binding protein 1 -chr8 38151438 38151471 enhancer 0 + 38151438 38151471 0,128,128 enhancer Pax6 binding motif; methylation-sensitive 108863620|GeneID:108863620 21971485|PMID:21971485 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:21971485] mediates positive regulation of promoter by Pax6 Pax6 binding motif; methylation-sensitive | mediates positive regulation of promoter by Pax6 -chr8 38151851 38151881 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 38151851 38151881 192,0,0 protein_binding_site SF1 distal site 108863620|GeneID:108863620 8703908|PMID:8703908 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8703908] SF1 distal site | nuclear receptor subfamily 5 group A member 1 -chr8 38153987 38154013 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 38153987 38154013 192,0,0 protein_binding_site SF1 site; -3056 to -3031 108863620|GeneID:108863620 20601698|PMID:20601698 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20601698] SF1 site; -3056 to -3031 | nuclear receptor subfamily 5 group A member 1 -chr8 38154143 38154161 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 38154143 38154161 192,0,0 protein_binding_site SF1 site; -3204 to -3187 108863620|GeneID:108863620 20601698|PMID:20601698 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20601698] positive regulation of promoter activity SF1 site; -3204 to -3187 | positive regulation of promoter activity | nuclear receptor subfamily 5 group A member 1 -chr8 38154319 38154354 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 38154319 38154354 192,0,0 protein_binding_site SF1 site; -3397 to -3363 108863620|GeneID:108863620 20601698|PMID:20601698 EXISTENCE:protein binding evidence [ECO:0000024][PMID:20601698] SF1 site; -3397 to -3363 | nuclear receptor subfamily 5 group A member 1 -chr8 38331585 38347431 mitotic 0 + 38331585 38347431 160,82,45 recombination_feature NUP98-NSD3 recombination region recombines with the NUP98 (NSD3) recombination sub-region within the nucleoporin 98kDa recombination region 107133509|GeneID:107133509 11986249|PMID:11986249 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11986249] NUP98-NSD3 recombination region recombines with the NUP98 (NSD3) recombination sub-region within the nucleoporin 98kDa recombination region -chr8 47960159 47960186 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 1 0 - 47960159 47960186 192,0,0 protein_binding_site D-ETS probe 106903146|GeneID:106903146 26365772|PMID:26365772 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26365772] D-ETS probe | v-ets avian erythroblastosis virus E26 oncogene homolog 1 -chr8 47960159 47960186 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 2 0 - 47960159 47960186 192,0,0 protein_binding_site D-ETS probe 106903146|GeneID:106903146 26365772|PMID:26365772 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26365772] D-ETS probe | v-ets avian erythroblastosis virus E26 oncogene homolog 2 -chr8 47960251 47960788 rep_origin: UPR amplicon 0 - 47960251 47960788 0,0,0 origin_of_replication UPR amplicon; peak of nascent starnd synthesis determined by quantitative PCR of size fractionated nascent DNA 106903146|GeneID:106903146 11809796|PMID:11809796 EXISTENCE:fractionation evidence [ECO:0000100][PMID:11809796] UPR amplicon; peak of nascent starnd synthesis determined by quantitative PCR of size fractionated nascent DNA -chr8 47960768 47960795 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 1 0 - 47960768 47960795 192,0,0 protein_binding_site P-ETS probe 106903146|GeneID:106903146 26365772|PMID:26365772 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26365772] P-ETS probe | v-ets avian erythroblastosis virus E26 oncogene homolog 1 -chr8 47960768 47960795 protein_bind: v-ets avian erythroblastosis virus E26 oncogene homolog 2 0 - 47960768 47960795 192,0,0 protein_binding_site P-ETS probe 106903146|GeneID:106903146 26365772|PMID:26365772 EXISTENCE:protein binding evidence [ECO:0000024][PMID:26365772] P-ETS probe | v-ets avian erythroblastosis virus E26 oncogene homolog 2 -chr8 48581589 48583174 enhancer 0 + 48581589 48583174 0,128,128 enhancer VISTA enhancer hs1431 110121100|GeneID:110121100,101929268|GeneID:101929268 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[7/7] | branchial arch[7/7] | facial mesenchyme[7/7] VISTA enhancer hs1431 | enhancer in: limb[7/7] | branchial arch[7/7] | facial mesenchyme[7/7] -chr8 52254169 52255276 enhancer 0 + 52254169 52255276 0,128,128 enhancer VISTA enhancer hs698 110120748|GeneID:110120748 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] | dorsal root ganglion[7/9] | forebrain[7/9] | trigeminal V (ganglion, cranial)[6/9] VISTA enhancer hs698 | enhancer in: neural tube[7/9] | hindbrain (rhombencephalon)[7/9] | midbrain (mesencephalon)[7/9] | dorsal root ganglion[7/9] | forebrain[7/9] | trigeminal V (ganglion, cranial)[6/9] -chr8 52466946 52467528 enhancer 0 + 52466946 52467528 0,128,128 enhancer amplified fragment containing most of the chr8:53379796-53380092 (GRCh37) CAGE region 108281129|GeneID:108281129 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr8:53379796-53380092 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr8 52467235 52467532 CAGE_cluster 0 + 52467235 52467532 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281129|GeneID:108281129 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 58255650 58257562 enhancer 0 + 58255650 58257562 0,128,128 enhancer VISTA enhancer hs1364 110121079|GeneID:110121079 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/8] | nose[4/8] VISTA enhancer hs1364 | enhancer in: forebrain[6/8] | nose[4/8] -chr8 59028654 59031077 enhancer 0 + 59028654 59031077 0,128,128 enhancer VISTA enhancer hs1326 110121059|GeneID:110121059 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/8] VISTA enhancer hs1326 | enhancer in: forebrain[6/8] -chr8 61090030 61095167 meiotic 0 + 61090030 61095167 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107436008|GeneID:107436008,157807|GeneID:157807 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr8 61090341 61093689 meiotic 0 + 61090341 61093689 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107436008|GeneID:107436008,157807|GeneID:157807 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr8 61090536 61091971 meiotic 0 + 61090536 61091971 160,82,45 recombination_feature G1 sub-region meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/C genotypes 107436008|GeneID:107436008,157807|GeneID:157807 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] G1 sub-region meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/C genotypes -chr8 61090570 61091870 meiotic 0 + 61090570 61091870 160,82,45 recombination_feature hotspot G1 sub-region, crossovers mapped in sperm cells of males of European ancestry 107436008|GeneID:107436008,157807|GeneID:157807 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] hotspot G1 sub-region, crossovers mapped in sperm cells of males of European ancestry -chr8 61092804 61094247 meiotic 0 + 61092804 61094247 160,82,45 recombination_feature G2 sub-region meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107436008|GeneID:107436008,157807|GeneID:157807 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] G2 sub-region meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr8 61092909 61094110 meiotic 0 + 61092909 61094110 160,82,45 recombination_feature hotspot G2 sub-region crossovers mapped in sperm cells of males of European ancestry 107436008|GeneID:107436008,157807|GeneID:157807 18650392|PMID:18650392 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392] hotspot G2 sub-region crossovers mapped in sperm cells of males of European ancestry -chr8 61721221 61721818 enhancer 0 + 61721221 61721818 0,128,128 enhancer amplified fragment containing most of the chr8:62634023-62634407 (GRCh37) CAGE region 108281171|GeneID:108281171 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] mid-level expression transcribed enhancer in HepG2 cells amplified fragment containing most of the chr8:62634023-62634407 (GRCh37) CAGE region | mid-level expression transcribed enhancer in HepG2 cells -chr8 61721463 61721848 CAGE_cluster 0 + 61721463 61721848 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281171|GeneID:108281171 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 63651713 63653415 enhancer 0 + 63651713 63653415 0,128,128 enhancer VISTA enhancer hs1239 110121038|GeneID:110121038 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/7] VISTA enhancer hs1239 | enhancer in: neural tube[5/7] -chr8 68973431 68976574 retrotransposon:HERVH-int 0 + 68973431 68976574 0,0,192 mobile_genetic_element direction; forward 108004543|GeneID:108004543 direction; forward -chr8 68975787 68975895 non_allelic_homologous 0 + 68975787 68975895 160,82,45 recombination_feature patient 1 8q13.2 NAHR recombination breakpoint sub-region, recombines with the patient 1 8q13.3 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 distal HERV-mediated recombination region, resulting in a deletion 108004543|GeneID:108004543 20979191|PMID:20979191 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20979191] patient 1 8q13.2 NAHR recombination breakpoint sub-region, recombines with the patient 1 8q13.3 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 distal HERV-mediated recombination region, resulting in a deletion -chr8 68976007 68976096 non_allelic_homologous 0 + 68976007 68976096 160,82,45 recombination_feature case 1 and 2 8q13.2 NAHR recombination breakpoint sub-region, recombines with the case 1 and 2 8q13.3 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 distal HERV-mediated recombination region, resulting in a deletion 108004543|GeneID:108004543 25135225|PMID:25135225 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25135225] case 1 and 2 8q13.2 NAHR recombination breakpoint sub-region, recombines with the case 1 and 2 8q13.3 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 distal HERV-mediated recombination region, resulting in a deletion -chr8 71675389 71678328 retrotransposon:HERVH-int 0 + 71675389 71678328 0,0,192 mobile_genetic_element direction; forward 108004544|GeneID:108004544 direction; forward -chr8 71677526 71677634 non_allelic_homologous 0 + 71677526 71677634 160,82,45 recombination_feature patient 1 8q13.3 NAHR recombination breakpoint sub-region, recombines with the patient 1 8q13.2 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 proximal HERV-mediated recombination region, resulting in a deletion 108004544|GeneID:108004544 20979191|PMID:20979191 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20979191] patient 1 8q13.3 NAHR recombination breakpoint sub-region, recombines with the patient 1 8q13.2 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 proximal HERV-mediated recombination region, resulting in a deletion -chr8 71677746 71677835 non_allelic_homologous 0 + 71677746 71677835 160,82,45 recombination_feature case 1 and 2 8q13.3 NAHR recombination breakpoint sub-region, recombines with the case 1 and 2 8q13.2 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 proximal HERV-mediated recombination region, resulting in a deletion 108004544|GeneID:108004544 25135225|PMID:25135225 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25135225] case 1 and 2 8q13.3 NAHR recombination breakpoint sub-region, recombines with the case 1 and 2 8q13.2 NAHR recombination breakpoint sub-region within the 8q13.2-q13.3 proximal HERV-mediated recombination region, resulting in a deletion -chr8 76047781 76049479 enhancer 0 + 76047781 76049479 0,128,128 enhancer VISTA enhancer hs891 110120797|GeneID:110120797 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/8] VISTA enhancer hs891 | enhancer in: neural tube[6/8] -chr8 76685771 76688410 enhancer 0 + 76685771 76688410 0,128,128 enhancer VISTA enhancer hs1318 110121054|GeneID:110121054,79776|GeneID:79776 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/6] | forebrain[4/6] VISTA enhancer hs1318 | enhancer in: midbrain (mesencephalon)[4/6] | forebrain[4/6] -chr8 76778446 76779543 enhancer 0 + 76778446 76779543 0,128,128 enhancer VISTA enhancer hs774 110120766|GeneID:110120766,79776|GeneID:79776 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/5] VISTA enhancer hs774 | enhancer in: limb[5/5] -chr8 76839316 76842107 enhancer 0 + 76839316 76842107 0,128,128 enhancer VISTA enhancer hs1681 110121186|GeneID:110121186,79776|GeneID:79776 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/5] | limb[4/5] | branchial arch[5/5] | trigeminal V (ganglion, cranial)[5/5] | genital tubercle[4/5] | tail[4/5] VISTA enhancer hs1681 | enhancer in: dorsal root ganglion[5/5] | limb[4/5] | branchial arch[5/5] | trigeminal V (ganglion, cranial)[5/5] | genital tubercle[4/5] | tail[4/5] -chr8 77130334 77131965 enhancer 0 + 77130334 77131965 0,128,128 enhancer VISTA enhancer hs742 110120756|GeneID:110120756 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/8] | forebrain[7/8] | eye[6/8] VISTA enhancer hs742 | enhancer in: hindbrain (rhombencephalon)[7/8] | forebrain[7/8] | eye[6/8] -chr8 77457981 77460182 enhancer 0 + 77457981 77460182 0,128,128 enhancer VISTA enhancer hs1422 110121096|GeneID:110121096,102724874|GeneID:102724874 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[13/14] VISTA enhancer hs1422 | enhancer in: limb[13/14] -chr8 79962125 79964511 enhancer 0 + 79962125 79964511 0,128,128 enhancer VISTA enhancer hs1305 110121048|GeneID:110121048 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | cranial nerve[5/8] VISTA enhancer hs1305 | enhancer in: neural tube[8/8] | hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | cranial nerve[5/8] -chr8 83537509 83537901 rep_origin: site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA 0 - 83537509 83537901 0,0,0 origin_of_replication site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA; promotes replication of a plasmid 107228383|GeneID:107228383 9356241|PMID:9356241 EXISTENCE:fractionation evidence [ECO:0000100][PMID:9356241] site of nascent strand synthesis determined by PCR of size-fractionated nascent DNA; promotes replication of a plasmid -chr8 91597043 91601193 enhancer 0 + 91597043 91601193 0,128,128 enhancer VISTA enhancer hs1601 110121157|GeneID:110121157 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: nose[7/9] VISTA enhancer hs1601 | enhancer in: nose[7/9] -chr8 91812530 91814390 enhancer 0 + 91812530 91814390 0,128,128 enhancer VISTA enhancer hs669 110120738|GeneID:110120738 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/6] VISTA enhancer hs669 | enhancer in: midbrain (mesencephalon)[6/6] -chr8 92018139 92021117 enhancer 0 + 92018139 92021117 0,128,128 enhancer VISTA enhancer hs1658 110121179|GeneID:110121179 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[6/10] | branchial arch[6/10] | heart[9/10] VISTA enhancer hs1658 | enhancer in: somite[6/10] | branchial arch[6/10] | heart[9/10] -chr8 92058468 92061167 enhancer 0 + 92058468 92061167 0,128,128 enhancer VISTA enhancer hs1599 110121155|GeneID:110121155 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/7] | limb[3/7] | branchial arch[5/7] | facial mesenchyme[5/7] VISTA enhancer hs1599 | enhancer in: forebrain[5/7] | limb[3/7] | branchial arch[5/7] | facial mesenchyme[5/7] -chr8 93287984 93291860 meiotic 0 + 93287984 93291860 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107457586|GeneID:107457586 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr8 93289190 93292948 meiotic 0 + 93289190 93292948 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107457586|GeneID:107457586 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr8 93289364 93291939 meiotic 0 + 93289364 93291939 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107457586|GeneID:107457586 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr8 93289834 93291234 meiotic 0 + 93289834 93291234 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles. 107457586|GeneID:107457586 18650392|PMID:18650392,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392, PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles. -chr8 93290524 93290537 nucleotide_motif 0 + 93290524 93290537 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107457586|GeneID:107457586 18650392|PMID:18650392,19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:18650392, PMID:19165926] nucleotide motif; similarity, but not exact identity (7/8 nucleotides), to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot -chr8 93290880 93290893 nucleotide_motif 0 + 93290880 93290893 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107457586|GeneID:107457586 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 98416252 98417204 enhancer 0 + 98416252 98417204 0,128,128 enhancer VISTA enhancer hs908 110120800|GeneID:110120800 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/6] | midbrain (mesencephalon)[4/6] | dorsal root ganglion[5/6] | trigeminal V (ganglion, cranial)[5/6] VISTA enhancer hs908 | enhancer in: neural tube[5/6] | midbrain (mesencephalon)[4/6] | dorsal root ganglion[5/6] | trigeminal V (ganglion, cranial)[5/6] -chr8 99668180 99669581 enhancer 0 + 99668180 99669581 0,128,128 enhancer VISTA enhancer hs909 110120801|GeneID:110120801,157680|GeneID:157680 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/10] | other[8/10] VISTA enhancer hs909 | enhancer in: dorsal root ganglion[5/10] | other[8/10] -chr8 100415609 100416115 enhancer 0 + 100415609 100416115 0,128,128 enhancer amplified fragment containing the chr8:101427912-101428321 (GRCh37) CAGE region 108254662|GeneID:108254662 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing the chr8:101427912-101428321 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr8 100415683 100416093 CAGE_cluster 0 + 100415683 100416093 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254662|GeneID:108254662 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 105321301 105322631 enhancer 0 + 105321301 105322631 0,128,128 enhancer VISTA enhancer hs195 110120608|GeneID:110120608,23414|GeneID:23414 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[7/10] VISTA enhancer hs195 | enhancer in: midbrain (mesencephalon)[7/10] -chr8 105590636 105595180 enhancer 0 + 105590636 105595180 0,128,128 enhancer VISTA enhancer hs1800 110121208|GeneID:110121208,23414|GeneID:23414 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[9/10] | dorsal root ganglion[6/10] | trigeminal V (ganglion, cranial)[8/10] | cranial nerve[8/10] VISTA enhancer hs1800 | enhancer in: midbrain (mesencephalon)[9/10] | dorsal root ganglion[6/10] | trigeminal V (ganglion, cranial)[8/10] | cranial nerve[8/10] -chr8 115418466 115420299 enhancer 0 + 115418466 115420299 0,128,128 enhancer VISTA enhancer hs919 110120802|GeneID:110120802 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[10/10] VISTA enhancer hs919 | enhancer in: limb[10/10] -chr8 117861936 117863051 enhancer_blocking_element 0 + 117861936 117863051 0,128,128 insulator candidate insulator 8-1-1; CTCF association and DNase I hypersensitivity in multiple cell types 108491824|GeneID:108491824 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 8-1-1; CTCF association and DNase I hypersensitivity in multiple cell types | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr8 119051343 119051943 enhancer 0 + 119051343 119051943 0,128,128 enhancer amplified fragment containing the chr8:120063756-120064086 (GRCh37) CAGE region 108281119|GeneID:108281119,10584|GeneID:10584 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr8:120063756-120064086 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr8 119051516 119051847 CAGE_cluster 0 + 119051516 119051847 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281119|GeneID:108281119,10584|GeneID:10584 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 121064413 121065899 enhancer 0 + 121064413 121065899 0,128,128 enhancer VISTA enhancer hs1482 110121123|GeneID:110121123 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[3/5] VISTA enhancer hs1482 | enhancer in: limb[3/5] -chr8 127205853 127206507 CAGE_cluster 0 + 127205853 127206507 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108228207|GeneID:108228207 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 127206098 127206690 enhancer 0 + 127206098 127206690 0,128,128 enhancer amplified fragment containing most of the chr8:128218099-128218752 (GRCh37) CAGE region 108228207|GeneID:108228207 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr8:128218099-128218752 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr8 127210244 127211258 enhancer 0 + 127210244 127211258 0,128,128 enhancer amplified fragment containing the chr8:128222490-128223503 (GRCh37) CAGE-defined region 108353813|GeneID:108353813 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in B cells amplified fragment containing the chr8:128222490-128223503 (GRCh37) CAGE-defined region | transcribed enhancer in B cells -chr8 127733743 127733954 rep_origin: HindIII/PstI fragment in pmyc(H-P) construct 0 + 127733743 127733954 0,0,0 origin_of_replication HindIII/PstI fragment in pmyc(H-P) construct; allows replication of a plasmid 106867047|GeneID:106867047 1324192|PMID:1324192,2216716|PMID:2216716,3053161|PMID:3053161 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:3053161, PMID:2216716, PMID:1324192] HindIII/PstI fragment in pmyc(H-P) construct; allows replication of a plasmid -chr8 127733743 127734673 rep_origin: pNeo.Myc5'-930 fragment 0 + 127733743 127734673 0,0,0 origin_of_replication pNeo.Myc5'-930 fragment; allows replication of a plasmid; contains multiple putative sites of leading strand initiation 106867047|GeneID:106867047 7626216|PMID:7626216 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:7626216] pNeo.Myc5'-930 fragment; allows replication of a plasmid; contains multiple putative sites of leading strand initiation -chr8 127733743 127736141 rep_origin: 2.4 kb HindIII/XhoI fragment 0 + 127733743 127736141 0,0,0 origin_of_replication 2.4 kb HindIII/XhoI fragment; contains multiple putative sites of leading strand initiation; allows replication of a plasmid and can function in an ectopic context (PMID:10409757) 106867047|GeneID:106867047 7799437|PMID:7799437,10409757|PMID:10409757 EXISTENCE:electron microscopy evidence [ECO:0005033][PMID:7799437] 2.4 kb HindIII/XhoI fragment; contains multiple putative sites of leading strand initiation; allows replication of a plasmid and can function in an ectopic context (PMID:10409757) -chr8 127733825 127733985 rep_origin: A amplicon 0 + 127733825 127733985 0,0,0 origin_of_replication A amplicon; peak of labeled nascent strand synthesis detected in competitive PCR assay 106867047|GeneID:106867047 9809750|PMID:9809750 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:9809750] A amplicon; peak of labeled nascent strand synthesis detected in competitive PCR assay -chr8 127733877 127733899 protein_bind: RNA binding motif, single stranded interacting protein 1 0 + 127733877 127733899 192,0,0 protein_binding_site 106867047|GeneID:106867047 7838710|PMID:7838710,8134115|PMID:8134115 EXISTENCE:protein binding evidence [ECO:0000024][PMID:8134115, PMID:7838710] protein_binding_site | RNA binding motif, single stranded interacting protein 1 -chr8 127733877 127733899 protein_bind: v-myc avian myelocytomatosis viral oncogene homolog 0 + 127733877 127733899 192,0,0 protein_binding_site 106867047|GeneID:106867047 1324192|PMID:1324192,2686984|PMID:2686984 EXISTENCE:protein binding evidence [ECO:0000024][PMID:2686984, PMID:1324192] protein_binding_site | v-myc avian myelocytomatosis viral oncogene homolog -chr8 127733877 127733899 rep_origin: 135-155 fragment 0 + 127733877 127733899 0,0,0 origin_of_replication 135-155 fragment; allows replication of a plasmid 106867047|GeneID:106867047 2686984|PMID:2686984 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:2686984] 135-155 fragment; allows replication of a plasmid -chr8 127734012 127734413 DNase_I_hypersensitive_site 0 + 127734012 127734413 0,128,128 region DHI; the nucleotide coordinates are approximate for this feature 106867047|GeneID:106867047 6327064|PMID:6327064 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:6327064] DHI; the nucleotide coordinates are approximate for this feature -chr8 127734420 127734444 protein_bind: purine-rich element binding protein A 0 + 127734420 127734444 192,0,0 protein_binding_site MF0677; preference for single-stranded sequence; methylation sensitive 106867047|GeneID:106867047 1448097|PMID:1448097,1545807|PMID:1545807 EXISTENCE:protein binding evidence [ECO:0000024][PMID:1545807, PMID:1448097] MF0677; preference for single-stranded sequence; methylation sensitive | purine-rich element binding protein A -chr8 127734478 127734580 protein_bind: D-tyrosyl-tRNA deacylase 1 0 + 127734478 127734580 192,0,0 protein_binding_site DUE (DNA unwinding element) 106867047|GeneID:106867047 15653697|PMID:15653697 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15653697] required for loading of replication factors DUE (DNA unwinding element) | required for loading of replication factors | D-tyrosyl-tRNA deacylase 1 -chr8 127734482 127734883 DNase_I_hypersensitive_site 0 + 127734482 127734883 0,128,128 region DHII1; the nucleotide coordinates are approximate for this feature 106867047|GeneID:106867047 6327064|PMID:6327064 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:6327064] DHII1; the nucleotide coordinates are approximate for this feature -chr8 127734489 127734571 replication_regulatory_region 0 + 127734489 127734571 0,128,128 region DUE (DNA unwinding element); found to be important in DNA replication by competitive PCR assay of size-fractionated nascent strands 106867047|GeneID:106867047 12589000|PMID:12589000 EXISTENCE:fractionation evidence [ECO:0000100][PMID:12589000] important for loading of replication factors and initation of replication DUE (DNA unwinding element); found to be important in DNA replication by competitive PCR assay of size-fractionated nascent strands | important for loading of replication factors and initation of replication -chr8 127734723 127734940 rep_origin: D amplicon 0 + 127734723 127734940 0,0,0 origin_of_replication D amplicon; peak of labeled nascent strand synthesis in competitive PCR assay 106867047|GeneID:106867047 9809750|PMID:9809750 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:9809750] D amplicon; peak of labeled nascent strand synthesis in competitive PCR assay -chr8 127735107 127736141 rep_origin: pNeo.Myc3'-1030 fragment 0 + 127735107 127736141 0,0,0 origin_of_replication pNeo.Myc3'-1030 fragment; allows replication of a plasmid 106867047|GeneID:106867047 7626216|PMID:7626216 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:7626216] pNeo.Myc3'-1030 fragment; allows replication of a plasmid -chr8 127735122 127735523 DNase_I_hypersensitive_site 0 + 127735122 127735523 0,128,128 region DHII2; the nucleotide coordinates are approximate for this feature 106867047|GeneID:106867047 6327064|PMID:6327064 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:6327064] DHII2; the nucleotide coordinates are approximate for this feature -chr8 127735462 127735866 rep_origin: 11 amplicon 0 + 127735462 127735866 0,0,0 origin_of_replication 11 amplicon; peak of nascent strand synthesis detected after lambda exonuclease treatment and competitive PCR assay 106867047|GeneID:106867047 10861842|PMID:10861842 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:10861842] 11 amplicon; peak of nascent strand synthesis detected after lambda exonuclease treatment and competitive PCR assay -chr8 127735740 127736141 DNase_I_hypersensitive_site 0 + 127735740 127736141 0,128,128 region DHIII1; the nucleotide coordinates are approximate for this feature 106867047|GeneID:106867047 6327064|PMID:6327064 EXISTENCE:in vivo cleavage assay evidence [ECO:0001075][PMID:6327064] DHIII1; the nucleotide coordinates are approximate for this feature -chr8 127809527 127810112 enhancer 0 + 127809527 127810112 0,128,128 enhancer amplified fragment containing the chr8:128822019-128822203 (GRCh37) CAGE region 108254690|GeneID:108254690,5820|GeneID:5820 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr8:128822019-128822203 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr8 127809772 127809957 CAGE_cluster 0 + 127809772 127809957 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254690|GeneID:108254690,5820|GeneID:5820 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr8 128975558 128976335 enhancer 0 + 128975558 128976335 0,128,128 enhancer VISTA enhancer hs1877 110121217|GeneID:110121217 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/9] | midbrain (mesencephalon)[5/9] | forebrain[5/9] | limb[5/9] | branchial arch[5/9] | eye[6/9] | nose[5/9] VISTA enhancer hs1877 | enhancer in: hindbrain (rhombencephalon)[5/9] | midbrain (mesencephalon)[5/9] | forebrain[5/9] | limb[5/9] | branchial arch[5/9] | eye[6/9] | nose[5/9] -chr8 129631843 129635071 enhancer 0 + 129631843 129635071 0,128,128 enhancer VISTA enhancer hs1709 110121191|GeneID:110121191 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: melanocytes[4/7] VISTA enhancer hs1709 | enhancer in: melanocytes[4/7] -chr8 136509070 136512623 meiotic 0 + 136509070 136512623 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107403242|GeneID:107403242,107986980|GeneID:107986980 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr8 136510637 136513131 meiotic 0 + 136510637 136513131 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107403242|GeneID:107403242,107986980|GeneID:107986980 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr8 136510742 136515366 meiotic 0 + 136510742 136515366 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107403242|GeneID:107403242,107986980|GeneID:107986980 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr8 136511255 136512655 meiotic 0 + 136511255 136512655 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles 107403242|GeneID:107403242,107986980|GeneID:107986980 18650392|PMID:18650392,20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:18650392, PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles -chr8 141411246 141416252 enhancer 0 + 141411246 141416252 0,128,128 enhancer VISTA enhancer hs1882 110121218|GeneID:110121218,11156|GeneID:11156 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: blood vessels[8/8] VISTA enhancer hs1882 | enhancer in: blood vessels[8/8] -chr8 142874233 142878451 meiotic 0 + 142874233 142878451 160,82,45 recombination_feature this region was shown to have an elevation in recombination frequency within the YRI population as shown in HapMap data 106799833|GeneID:106799833 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was shown to have an elevation in recombination frequency within the YRI population as shown in HapMap data -chr8 142875438 142875460 non_allelic_homologous 0 + 142875438 142875460 160,82,45 recombination_feature sub-region a (patient 1 from PMID:26066897), recombines with sub-region a' within the CYP11B2 recombination region 106799833|GeneID:106799833 26066897|PMID:26066897 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26066897] sub-region a (patient 1 from PMID:26066897), recombines with sub-region a' within the CYP11B2 recombination region -chr8 142875529 142875548 non_allelic_homologous 0 + 142875529 142875548 160,82,45 recombination_feature sub-region b (patients 2 and 3 from PMID:26066897), recombines with sub-region b' within the CYP11B2 recombination region 106799833|GeneID:106799833 26066897|PMID:26066897 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26066897] sub-region b (patients 2 and 3 from PMID:26066897), recombines with sub-region b' within the CYP11B2 recombination region -chr8 142875815 142875818 non_allelic_homologous 0 + 142875815 142875818 160,82,45 recombination_feature sub-region c, recombines with sub-region c' within the CYP11B2 recombination region 106799833|GeneID:106799833 11443188|PMID:11443188 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11443188] sub-region c, recombines with sub-region c' within the CYP11B2 recombination region -chr8 142876645 142876737 non_allelic_homologous 0 + 142876645 142876737 160,82,45 recombination_feature sub-region d (kindred 5 from PMID:7614815, kindred 10 from PMID:9851772), recombines with sub-region d' within the CYP11B2 recombination region 106799833|GeneID:106799833 7614815|PMID:7614815,9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772, PMID:7614815] sub-region d (kindred 5 from PMID:7614815, kindred 10 from PMID:9851772), recombines with sub-region d' within the CYP11B2 recombination region -chr8 142876738 142876874 non_allelic_homologous 0 + 142876738 142876874 160,82,45 recombination_feature sub-region e (kindred 4 from PMID:7614815, kindred 9 from PMID:9851772), recombines with sub-region e' within the CYP11B2 recombination region 106799833|GeneID:106799833 7614815|PMID:7614815,9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772, PMID:7614815] sub-region e (kindred 4 from PMID:7614815, kindred 9 from PMID:9851772), recombines with sub-region e' within the CYP11B2 recombination region -chr8 142876921 142876960 non_allelic_homologous 0 + 142876921 142876960 160,82,45 recombination_feature sub-region f (kindreds 1, 4, and 5 from PMID:9851772), recombines with sub-region f' within the CYP11B2 recombination region 106799833|GeneID:106799833 9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772] sub-region f (kindreds 1, 4, and 5 from PMID:9851772), recombines with sub-region f' within the CYP11B2 recombination region -chr8 142876958 142876974 nucleotide_motif 0 + 142876958 142876974 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799833|GeneID:106799833 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8 142877012 142877099 non_allelic_homologous 0 + 142877012 142877099 160,82,45 recombination_feature sub-region g (kindreds 1, 2, and 3 from PMID:7614815, kindreds 3, 6, 7, and 8 from PMID:9851772), recombines with sub-region g' within the CYP11B2 recombination region 106799833|GeneID:106799833 7614815|PMID:7614815,9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772, PMID:7614815] sub-region g (kindreds 1, 2, and 3 from PMID:7614815, kindreds 3, 6, 7, and 8 from PMID:9851772), recombines with sub-region g' within the CYP11B2 recombination region -chr8 142877177 142877495 non_allelic_homologous 0 + 142877177 142877495 160,82,45 recombination_feature sub-region h, recombines with sub-region h' within the CYP11B2 recombination region 106799833|GeneID:106799833 20808686|PMID:20808686 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20808686] sub-region h, recombines with sub-region h' within the CYP11B2 recombination region -chr8 142877289 142877302 nucleotide_motif 0 + 142877289 142877302 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106799833|GeneID:106799833 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 142877460 142877476 nucleotide_motif 0 + 142877460 142877476 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799833|GeneID:106799833 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8 142877494 142877496 non_allelic_homologous 0 + 142877494 142877496 160,82,45 recombination_feature sub-region i, recombines with sub-region i' within the CYP11B2 recombination region 106799833|GeneID:106799833 20634641|PMID:20634641 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20634641] sub-region i, recombines with sub-region i' within the CYP11B2 recombination region -chr8 142877571 142879022 non_allelic_homologous 0 + 142877571 142879022 160,82,45 recombination_feature sub-region j (kindred 2 from PMID:9851772), recombines with sub-region j' within the CYP11B2 recombination region 106799833|GeneID:106799833 9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772] sub-region j (kindred 2 from PMID:9851772), recombines with sub-region j' within the CYP11B2 recombination region -chr8 142903457 142917720 meiotic 0 + 142903457 142917720 160,82,45 recombination_feature this region was shown to have an elevation in recombination frequency within the YRI population as shown in HapMap data 106799834|GeneID:106799834 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was shown to have an elevation in recombination frequency within the YRI population as shown in HapMap data -chr8 142904461 142904477 nucleotide_motif 0 + 142904461 142904477 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8 142910676 142910692 nucleotide_motif 0 + 142910676 142910692 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8 142912216 142918174 meiotic 0 + 142912216 142918174 160,82,45 recombination_feature this region was shown to have an elevation in recombination frequency within the CEU population as shown in HapMap data 106799834|GeneID:106799834 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was shown to have an elevation in recombination frequency within the CEU population as shown in HapMap data -chr8 142912540 142913586 meiotic 0 + 142912540 142913586 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 106799834|GeneID:106799834 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr8 142913011 142913033 non_allelic_homologous 0 + 142913011 142913033 160,82,45 recombination_feature sub-region a' (patient 1 from PMID:26066897), recombines with sub-region a within the CYP11B1 recombination region 106799834|GeneID:106799834 26066897|PMID:26066897 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26066897] sub-region a' (patient 1 from PMID:26066897), recombines with sub-region a within the CYP11B1 recombination region -chr8 142913102 142913121 non_allelic_homologous 0 + 142913102 142913121 160,82,45 recombination_feature sub-region b' (patients 2 and 3 from PMID:26066897), recombines with sub-region b within the CYP11B1 recombination 106799834|GeneID:106799834 26066897|PMID:26066897 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26066897] sub-region b' (patients 2 and 3 from PMID:26066897), recombines with sub-region b within the CYP11B1 recombination -chr8 142913388 142913391 non_allelic_homologous 0 + 142913388 142913391 160,82,45 recombination_feature sub-region c', recombines with sub-region c within the CYP11B1 recombination region 106799834|GeneID:106799834 11443188|PMID:11443188 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11443188] sub-region c', recombines with sub-region c within the CYP11B1 recombination region -chr8 142913644 142913657 nucleotide_motif 0 + 142913644 142913657 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 142914668 142914760 non_allelic_homologous 0 + 142914668 142914760 160,82,45 recombination_feature sub-region d' (kindred 5 from PMID:7614815, kindred 10 from PMID:9851772), recombines with sub-region d within the CYP11B1 recombination region 106799834|GeneID:106799834 7614815|PMID:7614815,9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772, PMID:7614815] sub-region d' (kindred 5 from PMID:7614815, kindred 10 from PMID:9851772), recombines with sub-region d within the CYP11B1 recombination region -chr8 142914761 142914897 non_allelic_homologous 0 + 142914761 142914897 160,82,45 recombination_feature sub-region e' (kindred 4 from PMID:7614815, kindred 9 from PMID:9851772), recombines with sub-region e within the CYP11B1 recombination region 106799834|GeneID:106799834 7614815|PMID:7614815,9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772, PMID:7614815] sub-region e' (kindred 4 from PMID:7614815, kindred 9 from PMID:9851772), recombines with sub-region e within the CYP11B1 recombination region -chr8 142914944 142914983 non_allelic_homologous 0 + 142914944 142914983 160,82,45 recombination_feature sub-region f' (kindreds 1, 4, and 5 from PMID:9851772), recombines with sub-region f within the CYP11B1 recombination region 106799834|GeneID:106799834 9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772] sub-region f' (kindreds 1, 4, and 5 from PMID:9851772), recombines with sub-region f within the CYP11B1 recombination region -chr8 142915035 142915122 non_allelic_homologous 0 + 142915035 142915122 160,82,45 recombination_feature sub-region g' (kindreds 1, 2, and 3 from PMID:7614815, kindreds 3, 6, 7, and 8 from PMID:9851772), recombines with sub-region g within the CYP11B1 recombination region 106799834|GeneID:106799834 7614815|PMID:7614815,9851772|PMID:9851772 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9851772, PMID:7614815] sub-region g' (kindreds 1, 2, and 3 from PMID:7614815, kindreds 3, 6, 7, and 8 from PMID:9851772), recombines with sub-region g within the CYP11B1 recombination region -chr8 142915200 142915517 non_allelic_homologous 0 + 142915200 142915517 160,82,45 recombination_feature sub-region h', recombines with sub-region h within the CYP11B1 recombination region 106799834|GeneID:106799834 20808686|PMID:20808686 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20808686] sub-region h', recombines with sub-region h within the CYP11B1 recombination region -chr8 142915312 142915325 nucleotide_motif 0 + 142915312 142915325 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 142915483 142915499 nucleotide_motif 0 + 142915483 142915499 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8 142915517 142915519 non_allelic_homologous 0 + 142915517 142915519 160,82,45 recombination_feature sub-region i', recombines with sub-region i within the CYP11B1 recombination region 106799834|GeneID:106799834 20808686|PMID:20808686 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20808686] sub-region i', recombines with sub-region i within the CYP11B1 recombination region -chr8 142915595 142917042 non_allelic_homologous 0 + 142915595 142917042 160,82,45 recombination_feature sub-region j' (kindred 2 from PMID:9851772), recombines with sub-region j within the CYP11B1 recombination region 106799834|GeneID:106799834 9851772|PMID:9851772,20634641|PMID:20634641 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20634641] sub-region j' (kindred 2 from PMID:9851772), recombines with sub-region j within the CYP11B1 recombination region -chr8 142916462 142916475 nucleotide_motif 0 + 142916462 142916475 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr8 142916512 142916528 nucleotide_motif 0 + 142916512 142916528 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8 142917578 142917594 nucleotide_motif 0 + 142917578 142917594 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106799834|GeneID:106799834 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr8_KI270900v1_alt 310514 310673 enhancer 0 + 310514 310673 0,128,128 enhancer 106783493|GeneID:106783493,9228|GeneID:9228 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr8_KI270926v1_alt 113909 114068 enhancer 0 + 113909 114068 0,128,128 enhancer 106783493|GeneID:106783493,9228|GeneID:9228 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr9 159656 160780 enhancer 0 + 159656 160780 0,128,128 enhancer VISTA enhancer hs628 110120718|GeneID:110120718 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/10] VISTA enhancer hs628 | enhancer in: hindbrain (rhombencephalon)[8/10] -chr9 973434 975288 enhancer 0 + 973434 975288 0,128,128 enhancer VISTA enhancer hs112 110120591|GeneID:110120591 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/7] VISTA enhancer hs112 | enhancer in: forebrain[7/7] -chr9 2240935 2242833 enhancer 0 + 2240935 2242833 0,128,128 enhancer VISTA enhancer hs1743 110121197|GeneID:110121197 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[4/4] | forebrain[4/4] | trigeminal V (ganglion, cranial)[4/4] | cranial nerve[4/4] VISTA enhancer hs1743 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[4/4] | midbrain (mesencephalon)[4/4] | forebrain[4/4] | trigeminal V (ganglion, cranial)[4/4] | cranial nerve[4/4] -chr9 3401030 3402562 enhancer 0 + 3401030 3402562 0,128,128 enhancer VISTA enhancer hs1350 110121072|GeneID:110121072 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | forebrain[6/8] VISTA enhancer hs1350 | enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | forebrain[6/8] -chr9 4174766 4175327 enhancer 0 + 4174766 4175327 0,128,128 enhancer amplified fragment containing the chr9:4174938-4175110 (GRCh37) CAGE region 108281132|GeneID:108281132 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr9:4174938-4175110 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr9 4174937 4175110 CAGE_cluster 0 + 4174937 4175110 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281132|GeneID:108281132 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr9 5230695 5231041 retrotransposon:LTR22B1 0 + 5230695 5231041 0,0,192 mobile_genetic_element 107882132|GeneID:107882132 mobile_genetic_element -chr9 5230695 5231513 promoter 0 + 5230695 5231513 0,128,128 promoter -719/AflII to +95 fragment 107882132|GeneID:107882132 12606452|PMID:12606452 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:12606452] promoter in JEG-3 placental cells -719/AflII to +95 fragment | promoter in JEG-3 placental cells -chr9 7757657 7764350 meiotic 0 + 7757657 7764350 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107522029|GeneID:107522029 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr9 7757879 7761079 meiotic 0 + 7757879 7761079 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles 107522029|GeneID:107522029 20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with PRDM9 A/A > PRDM9 A/N, where N is a non-PRDM9 A allele. Low recombination frequencies are observed with some PRDM9 alleles -chr9 7757891 7764365 meiotic 0 + 7757891 7764365 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107522029|GeneID:107522029 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr9 7758010 7758026 nucleotide_motif 0 + 7758010 7758026 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522029|GeneID:107522029 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 7758376 7758392 nucleotide_motif 0 + 7758376 7758392 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522029|GeneID:107522029 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 7758404 7758420 nucleotide_motif 0 + 7758404 7758420 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522029|GeneID:107522029 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 7758584 7758597 nucleotide_motif 0 + 7758584 7758597 192,0,192 sequence_feature nucleotide motif; similarity but not exact identity (7/8 nucleotides) to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522029|GeneID:107522029 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity but not exact identity (7/8 nucleotides) to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 7758684 7760647 meiotic 0 + 7758684 7760647 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 107522029|GeneID:107522029 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr9 7760415 7760436 nucleotide_motif 0 + 7760415 7760436 192,0,192 sequence_feature nucleotide motif; similarity but not exact identity (7/8 nucleotides) to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522029|GeneID:107522029 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity but not exact identity (7/8 nucleotides) to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 7760916 7760929 nucleotide_motif 0 + 7760916 7760929 192,0,192 sequence_feature nucleotide motif; similarity but not exact identity (7/8 nucleotides) to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107522029|GeneID:107522029 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity but not exact identity (7/8 nucleotides) to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 7762148 7762164 nucleotide_motif 0 + 7762148 7762164 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107522029|GeneID:107522029 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 8095552 8096166 enhancer 0 + 8095552 8096166 0,128,128 enhancer VISTA enhancer hs304 110120655|GeneID:110120655 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/6] | forebrain[5/6] VISTA enhancer hs304 | enhancer in: midbrain (mesencephalon)[3/6] | forebrain[5/6] -chr9 13750115 13751399 enhancer 0 + 13750115 13751399 0,128,128 enhancer VISTA enhancer hs852 110120788|GeneID:110120788 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/6] | facial mesenchyme[3/6] VISTA enhancer hs852 | enhancer in: forebrain[4/6] | facial mesenchyme[3/6] -chr9 13939547 13940364 enhancer 0 + 13939547 13940364 0,128,128 enhancer VISTA enhancer hs305 110120656|GeneID:110120656,100113404|GeneID:100113404 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/7] VISTA enhancer hs305 | enhancer in: limb[5/7] -chr9 16710537 16711186 enhancer 0 + 16710537 16711186 0,128,128 enhancer VISTA enhancer hs307 110120657|GeneID:110120657 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[13/15] VISTA enhancer hs307 | enhancer in: hindbrain (rhombencephalon)[13/15] -chr9 17322201 17324373 enhancer 0 + 17322201 17324373 0,128,128 enhancer VISTA enhancer hs529 110120694|GeneID:110120694,54875|GeneID:54875 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/8] VISTA enhancer hs529 | enhancer in: hindbrain (rhombencephalon)[5/8] -chr9 23004730 23005790 enhancer 0 + 23004730 23005790 0,128,128 enhancer VISTA enhancer hs643 110120727|GeneID:110120727 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[9/12] | forebrain[10/12] VISTA enhancer hs643 | enhancer in: hindbrain (rhombencephalon)[9/12] | forebrain[10/12] -chr9 23496286 23497396 enhancer 0 + 23496286 23497396 0,128,128 enhancer VISTA enhancer hs309 110120658|GeneID:110120658 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: cranial nerve[5/9] VISTA enhancer hs309 | enhancer in: cranial nerve[5/9] -chr9 27573484 27573546 tandem 0 + 27573484 27573546 0,0,192 repeat_region 109504728|GeneID:109504728 repeat_region -chr9 27573528 27573546 repeat_instability_region 0 + 27573528 27573546 192,0,192 sequence_feature repeat instability region; expansion of the (GGGGCC)n hexanucleotide repeat (GGCCCC relative to the plus strand of the reference genome) is associated with frontotemporal lobar degeneration with amyotrophic lateral sclerosis (ALS/FTLD) 109504728|GeneID:109504728 21944778|PMID:21944778,21944779|PMID:21944779 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:21944779, PMID:21944778] repeat instability region; expansion of the (GGGGCC)n hexanucleotide repeat (GGCCCC relative to the plus strand of the reference genome) is associated with frontotemporal lobar degeneration with amyotrophic lateral sclerosis (ALS/FTLD) -chr9 33618508 33618515 misc_recomb: TRBV20OR9-2 0 + 33618508 33618515 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33618515 33618538 misc_recomb: TRBV20OR9-2 0 + 33618515 33618538 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33618538 33618547 misc_recomb: TRBV20OR9-2 0 + 33618538 33618547 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33629588 33629595 misc_recomb: TRBV21OR9-2 0 + 33629588 33629595 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33629595 33629618 misc_recomb: TRBV21OR9-2 0 + 33629595 33629618 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33629618 33629626 misc_recomb: TRBV21OR9-2 0 + 33629618 33629626 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33634302 33634309 misc_recomb: TRBV22OR9-2 0 + 33634302 33634309 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33634309 33634332 misc_recomb: TRBV22OR9-2 0 + 33634309 33634332 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33634332 33634341 misc_recomb: TRBV22OR9-2 0 + 33634332 33634341 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33638508 33638515 misc_recomb: TRBV23OR9-2 0 + 33638508 33638515 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33638515 33638538 misc_recomb: TRBV23OR9-2 0 + 33638515 33638538 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33638538 33638547 misc_recomb: TRBV23OR9-2 0 + 33638538 33638547 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33649613 33649620 misc_recomb: TRBV24OR9-2 0 + 33649613 33649620 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33649620 33649643 misc_recomb: TRBV24OR9-2 0 + 33649620 33649643 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33649643 33649652 misc_recomb: TRBV24OR9-2 0 + 33649643 33649652 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33662664 33662671 misc_recomb: TRBV25OR9-2 0 + 33662664 33662671 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33662671 33662694 misc_recomb: TRBV25OR9-2 0 + 33662671 33662694 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33662694 33662703 misc_recomb: TRBV25OR9-2 0 + 33662694 33662703 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33696061 33696068 misc_recomb: TRBV26OR9-2 0 + 33696061 33696068 160,82,45 recombination_feature RSS heptamer RSS heptamer -chr9 33696068 33696091 misc_recomb: TRBV26OR9-2 0 + 33696068 33696091 160,82,45 recombination_feature RSS spacer RSS spacer -chr9 33696091 33696100 misc_recomb: TRBV26OR9-2 0 + 33696091 33696100 160,82,45 recombination_feature RSS nonamer RSS nonamer -chr9 33786828 33786835 misc_recomb: TRBV29OR9-2 0 + 33786828 33786835 160,82,45 recombination_feature RSS heptamer 5646|GeneID:5646 RSS heptamer -chr9 33786845 33786858 misc_recomb: TRBV29OR9-2 0 + 33786845 33786858 160,82,45 recombination_feature RSS spacer 5646|GeneID:5646 RSS spacer -chr9 33786858 33786867 misc_recomb: TRBV29OR9-2 0 + 33786858 33786867 160,82,45 recombination_feature RSS nonamer 5646|GeneID:5646 RSS nonamer -chr9 36916754 36917203 enhancer 0 + 36916754 36917203 0,128,128 enhancer 450 bp enhancer fragment 108254684|GeneID:108254684 17671180|PMID:17671180 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17671180] 450 bp enhancer fragment -chr9 37034033 37034154 silencer 0 + 37034033 37034154 0,128,128 silencer +326 to +451 108254682|GeneID:108254682 11223243|PMID:11223243 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11223243] orientation-independent negative regulation of transcription when located downstream of promoter +326 to +451 | orientation-independent negative regulation of transcription when located downstream of promoter -chr9 37034413 37034852 promoter 0 + 37034413 37034852 0,128,128 promoter -374 to +67; region inferred as core active promoter 108254682|GeneID:108254682 11223243|PMID:11223243 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:11223243] -374 to +67; region inferred as core active promoter -chr9 37213354 37214554 enhancer 0 + 37213354 37214554 0,128,128 enhancer chr9 POU3F2 HCT in ZCCHC7 intron 108169209|GeneID:108169209,84186|GeneID:84186 20363979|PMID:20363979 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:20363979] HCT enhancer chr9 POU3F2 HCT in ZCCHC7 intron | HCT enhancer -chr9 37214127 37214309 conserved_region 0 + 37214127 37214309 192,0,192 sequence_feature conserved region; HCT with multiple POU3F2 binding motifs 108169209|GeneID:108169209,84186|GeneID:84186 20363979|PMID:20363979 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:20363979] conserved region; HCT with multiple POU3F2 binding motifs -chr9 37251209 37252226 enhancer 0 + 37251209 37252226 0,128,128 enhancer VISTA enhancer hs901 110120798|GeneID:110120798,84186|GeneID:84186 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] VISTA enhancer hs901 | enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] -chr9 38038697 38040102 enhancer 0 + 38038697 38040102 0,128,128 enhancer VISTA enhancer hs2062 110121248|GeneID:110121248 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: heart[6/9] VISTA enhancer hs2062 | enhancer in: heart[6/9] -chr9 38425498 38429778 enhancer 0 + 38425498 38429778 0,128,128 enhancer VISTA enhancer hs1390 110121090|GeneID:110121090,105376041|GeneID:105376041 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/6] | tail[5/6] VISTA enhancer hs1390 | enhancer in: limb[6/6] | tail[5/6] -chr9 69037275 69037304 tandem 0 + 69037275 69037304 0,0,192 repeat_region 108510657|GeneID:108510657,2395|GeneID:2395 repeat_region -chr9 69037286 69037304 repeat_instability_region 0 + 69037286 69037304 192,0,192 sequence_feature repeat instability region; expansion of the (GAA)n trinucleotide repeat region is associated with Friedreich ataxia 108510657|GeneID:108510657,2395|GeneID:2395 8596916|PMID:8596916 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:8596916] repeat instability region; expansion of the (GAA)n trinucleotide repeat region is associated with Friedreich ataxia -chr9 69477110 69483129 non-LTR retrotransposon:L1PA2 0 + 69477110 69483129 0,0,192 mobile_genetic_element direction; forward 108175349|GeneID:108175349 direction; forward -chr9 69477363 69480039 non_allelic_homologous 0 + 69477363 69480039 160,82,45 recombination_feature deletion patients 1-11 9q21.12 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-11 9q21.12 distal NAHR recombination breakpoint sub-region within the 9q21.12 distal LINE-mediated recombination region, resulting in a deletion 108175349|GeneID:108175349 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1-11 9q21.12 proximal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-11 9q21.12 distal NAHR recombination breakpoint sub-region within the 9q21.12 distal LINE-mediated recombination region, resulting in a deletion -chr9 69480220 69480770 non_allelic_homologous 0 + 69480220 69480770 160,82,45 recombination_feature duplication patients 1-2 9q21.12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patients 1-2 9q21.12 distal NAHR recombination breakpoint sub-region within the 9q21.12 distal LINE-mediated recombination region, resulting in a duplication 108175349|GeneID:108175349 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patients 1-2 9q21.12 proximal NAHR recombination breakpoint sub-region, recombines with the duplication patients 1-2 9q21.12 distal NAHR recombination breakpoint sub-region within the 9q21.12 distal LINE-mediated recombination region, resulting in a duplication -chr9 69506051 69512070 non-LTR retrotransposon:L1PA2 0 + 69506051 69512070 0,0,192 mobile_genetic_element direction; forward 108175350|GeneID:108175350 direction; forward -chr9 69506310 69508986 non_allelic_homologous 0 + 69506310 69508986 160,82,45 recombination_feature deletion patients 1-11 9q21.12 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-11 9q21.12 proximal NAHR recombination breakpoint sub-region within the 9q21.12 distal LINE-mediated recombination region, resulting in a deletion 108175350|GeneID:108175350 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] deletion patients 1-11 9q21.12 distal NAHR recombination breakpoint sub-region, recombines with the deletion patients 1-11 9q21.12 proximal NAHR recombination breakpoint sub-region within the 9q21.12 distal LINE-mediated recombination region, resulting in a deletion -chr9 69509167 69509717 non_allelic_homologous 0 + 69509167 69509717 160,82,45 recombination_feature duplication patients 1-2 9q21.12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patients 1-2 9q21.12 proximal NAHR recombination breakpoint sub-region within the 9q21.12 proximal LINE-mediated recombination region, resulting in a duplication 108175350|GeneID:108175350 25613453|PMID:25613453 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:25613453] duplication patients 1-2 9q21.12 distal NAHR recombination breakpoint sub-region, recombines with the duplication patients 1-2 9q21.12 proximal NAHR recombination breakpoint sub-region within the 9q21.12 proximal LINE-mediated recombination region, resulting in a duplication -chr9 78395962 78399187 enhancer 0 + 78395962 78399187 0,128,128 enhancer VISTA enhancer hs1530 110121133|GeneID:110121133,107987083|GeneID:107987083 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[3/3] | limb[3/3] VISTA enhancer hs1530 | enhancer in: forebrain[3/3] | limb[3/3] -chr9 78437287 78440904 enhancer 0 + 78437287 78440904 0,128,128 enhancer VISTA enhancer hs1585 110121151|GeneID:110121151,107987083|GeneID:107987083 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/4] | hindbrain (rhombencephalon)[3/4] | midbrain (mesencephalon)[3/4] | dorsal root ganglion[3/4] | forebrain[3/4] | eye[3/4] | cranial nerve[3/4] | nose[3/4] VISTA enhancer hs1585 | enhancer in: neural tube[3/4] | hindbrain (rhombencephalon)[3/4] | midbrain (mesencephalon)[3/4] | dorsal root ganglion[3/4] | forebrain[3/4] | eye[3/4] | cranial nerve[3/4] | nose[3/4] -chr9 78856830 78858198 enhancer 0 + 78856830 78858198 0,128,128 enhancer VISTA enhancer hs312 110120660|GeneID:110120660 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[10/13] | midbrain (mesencephalon)[10/13] | forebrain[10/13] | limb[7/13] VISTA enhancer hs312 | enhancer in: hindbrain (rhombencephalon)[10/13] | midbrain (mesencephalon)[10/13] | forebrain[10/13] | limb[7/13] -chr9 79208381 79209752 enhancer 0 + 79208381 79209752 0,128,128 enhancer VISTA enhancer hs765 110120764|GeneID:110120764 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/5] VISTA enhancer hs765 | enhancer in: midbrain (mesencephalon)[4/5] -chr9 79255706 79257309 enhancer 0 + 79255706 79257309 0,128,128 enhancer VISTA enhancer hs313 110120661|GeneID:110120661 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] | limb[3/4] VISTA enhancer hs313 | enhancer in: forebrain[4/4] | limb[3/4] -chr9 79395330 79396632 enhancer 0 + 79395330 79396632 0,128,128 enhancer VISTA enhancer hs1041 110120972|GeneID:110120972 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[6/7] | forebrain[7/7] VISTA enhancer hs1041 | enhancer in: neural tube[7/7] | hindbrain (rhombencephalon)[7/7] | midbrain (mesencephalon)[6/7] | forebrain[7/7] -chr9 79609169 79611842 enhancer 0 + 79609169 79611842 0,128,128 enhancer VISTA enhancer hs1078 110120981|GeneID:110120981,7091|GeneID:7091 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[7/8] | forebrain[7/8] | cranial nerve[7/8] VISTA enhancer hs1078 | enhancer in: neural tube[7/8] | hindbrain (rhombencephalon)[7/8] | midbrain (mesencephalon)[7/8] | forebrain[7/8] | cranial nerve[7/8] -chr9 79661204 79663619 enhancer 0 + 79661204 79663619 0,128,128 enhancer VISTA enhancer hs1360 110121077|GeneID:110121077,7091|GeneID:7091 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/11] | midbrain (mesencephalon)[8/11] | forebrain[5/11] VISTA enhancer hs1360 | enhancer in: hindbrain (rhombencephalon)[4/11] | midbrain (mesencephalon)[8/11] | forebrain[5/11] -chr9 79975398 79978259 enhancer 0 + 79975398 79978259 0,128,128 enhancer VISTA enhancer hs1163 110121011|GeneID:110121011,101927477|GeneID:101927477 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[6/11] | trigeminal V (ganglion, cranial)[8/11] | cranial nerve[8/11] VISTA enhancer hs1163 | enhancer in: branchial arch[6/11] | trigeminal V (ganglion, cranial)[8/11] | cranial nerve[8/11] -chr9 80066352 80067777 enhancer 0 + 80066352 80067777 0,128,128 enhancer VISTA enhancer hs1004 110120960|GeneID:110120960 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[7/10] | midbrain (mesencephalon)[8/10] | limb[4/10] | branchial arch[3/10] | nose[5/10] VISTA enhancer hs1004 | enhancer in: hindbrain (rhombencephalon)[7/10] | midbrain (mesencephalon)[8/10] | limb[4/10] | branchial arch[3/10] | nose[5/10] -chr9 80797784 80799057 enhancer 0 + 80797784 80799057 0,128,128 enhancer VISTA enhancer hs974 110120816|GeneID:110120816,107987084|GeneID:107987084 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: other[4/7] VISTA enhancer hs974 | enhancer in: other[4/7] -chr9 81112207 81113463 enhancer 0 + 81112207 81113463 0,128,128 enhancer VISTA enhancer hs240 110120622|GeneID:110120622 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/7] VISTA enhancer hs240 | enhancer in: forebrain[7/7] -chr9 81394600 81395951 enhancer 0 + 81394600 81395951 0,128,128 enhancer VISTA enhancer hs722 110120754|GeneID:110120754 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/13] | trigeminal V (ganglion, cranial)[6/13] VISTA enhancer hs722 | enhancer in: hindbrain (rhombencephalon)[6/13] | trigeminal V (ganglion, cranial)[6/13] -chr9 81552435 81553261 enhancer 0 + 81552435 81553261 0,128,128 enhancer VISTA enhancer hs1118 110120996|GeneID:110120996 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/7] | branchial arch[4/7] VISTA enhancer hs1118 | enhancer in: forebrain[6/7] | branchial arch[4/7] -chr9 81649279 81652035 enhancer 0 + 81649279 81652035 0,128,128 enhancer VISTA enhancer hs1359 110121076|GeneID:110121076 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[8/10] | hindbrain (rhombencephalon)[8/10] | midbrain (mesencephalon)[8/10] | forebrain[8/10] VISTA enhancer hs1359 | enhancer in: neural tube[8/10] | hindbrain (rhombencephalon)[8/10] | midbrain (mesencephalon)[8/10] | forebrain[8/10] -chr9 81684294 81685202 enhancer 0 + 81684294 81685202 0,128,128 enhancer VISTA enhancer hs556 110120702|GeneID:110120702 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[3/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[3/5] VISTA enhancer hs556 | enhancer in: neural tube[3/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[3/5] -chr9 82331977 82333121 enhancer 0 + 82331977 82333121 0,128,128 enhancer VISTA enhancer hs752 110120759|GeneID:110120759,105376107|GeneID:105376107 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/7] | dorsal root ganglion[4/7] | trigeminal V (ganglion, cranial)[4/7] VISTA enhancer hs752 | enhancer in: neural tube[4/7] | dorsal root ganglion[4/7] | trigeminal V (ganglion, cranial)[4/7] -chr9 82363358 82364216 enhancer 0 + 82363358 82364216 0,128,128 enhancer VISTA enhancer hs800 110120774|GeneID:110120774,105376107|GeneID:105376107 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: dorsal root ganglion[5/6] VISTA enhancer hs800 | enhancer in: dorsal root ganglion[5/6] -chr9 82894716 82895772 enhancer 0 + 82894716 82895772 0,128,128 enhancer VISTA enhancer hs618 110120717|GeneID:110120717 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/11] VISTA enhancer hs618 | enhancer in: neural tube[6/11] -chr9 84356018 84356757 epigenetically_modified_region 0 + 84356018 84356757 0,128,128 region co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells 108281174|GeneID:108281174 22955616|PMID:22955616 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:22955616] co-occurring H3K27ac and H3K4me1 histone modifications with P300 binding and no CAGE data in HeLa cells -chr9 84356049 84356640 enhancer 0 + 84356049 84356640 0,128,128 enhancer amplified fragment containing most of the chr9:86970934-86971672 (GRCh37) region with regulatory potential 108281174|GeneID:108281174 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] nontranscribed enhancer in HeLa cells amplified fragment containing most of the chr9:86970934-86971672 (GRCh37) region with regulatory potential | nontranscribed enhancer in HeLa cells -chr9 87033434 87036683 enhancer 0 + 87033434 87036683 0,128,128 enhancer VISTA enhancer hs1463 110121114|GeneID:110121114 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[6/7] VISTA enhancer hs1463 | enhancer in: limb[6/7] -chr9 89677568 89678974 enhancer 0 + 89677568 89678974 0,128,128 enhancer VISTA enhancer hs1339 110121067|GeneID:110121067,100129066|GeneID:100129066 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[6/7] | hindbrain (rhombencephalon)[6/7] | midbrain (mesencephalon)[6/7] | dorsal root ganglion[6/7] | forebrain[6/7] | limb[6/7] | nose[6/7] VISTA enhancer hs1339 | enhancer in: neural tube[6/7] | hindbrain (rhombencephalon)[6/7] | midbrain (mesencephalon)[6/7] | dorsal root ganglion[6/7] | forebrain[6/7] | limb[6/7] | nose[6/7] -chr9 94165622 94166187 enhancer 0 + 94165622 94166187 0,128,128 enhancer amplified fragment containing most of the chr9:96928143-96928630 (GRCh37) CAGE region 108228205|GeneID:108228205 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa cells amplified fragment containing most of the chr9:96928143-96928630 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa cells -chr9 94165860 94166348 CAGE_cluster 0 + 94165860 94166348 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108228205|GeneID:108228205 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr9 95495576 95497123 enhancer 0 + 95495576 95497123 0,128,128 enhancer VISTA enhancer hs1258 110121043|GeneID:110121043 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | forebrain[3/5] VISTA enhancer hs1258 | enhancer in: neural tube[4/5] | hindbrain (rhombencephalon)[4/5] | midbrain (mesencephalon)[4/5] | forebrain[3/5] -chr9 95512059 95513032 enhancer 0 + 95512059 95513032 0,128,128 enhancer VISTA enhancer hs1417 110121093|GeneID:110121093 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/8] VISTA enhancer hs1417 | enhancer in: forebrain[5/8] -chr9 97862580 97864397 enhancer 0 + 97862580 97864397 0,128,128 enhancer VISTA enhancer hs1596 110121153|GeneID:110121153 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: facial mesenchyme[3/11] VISTA enhancer hs1596 | enhancer in: facial mesenchyme[3/11] -chr9 97873935 97875680 enhancer 0 + 97873935 97875680 0,128,128 enhancer VISTA enhancer hs1597 110121154|GeneID:110121154 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs1597 | enhancer in: forebrain[4/5] -chr9 97873935 97878227 enhancer 0 + 97873935 97878227 0,128,128 enhancer VISTA enhancer hs1717 110121154|GeneID:110121154 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[11/11] VISTA enhancer hs1717 | enhancer in: forebrain[11/11] -chr9 111161069 111165765 enhancer 0 + 111161069 111165765 0,128,128 enhancer VISTA enhancer hs1447 110121106|GeneID:110121106 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: limb[5/6] VISTA enhancer hs1447 | enhancer in: limb[5/6] -chr9 113964155 113965533 enhancer 0 + 113964155 113965533 0,128,128 enhancer VISTA enhancer hs641 110120726|GeneID:110120726,114991|GeneID:114991 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/11] | limb[5/11] | other[8/11] VISTA enhancer hs641 | enhancer in: forebrain[8/11] | limb[5/11] | other[8/11] -chr9 115465566 115468054 enhancer 0 + 115465566 115468054 0,128,128 enhancer VISTA enhancer hs1625 110121163|GeneID:110121163 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/12] | branchial arch[8/12] VISTA enhancer hs1625 | enhancer in: forebrain[8/12] | branchial arch[8/12] -chr9 123775438 123777650 enhancer 0 + 123775438 123777650 0,128,128 enhancer VISTA enhancer hs314 110120662|GeneID:110120662 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/8] VISTA enhancer hs314 | enhancer in: midbrain (mesencephalon)[6/8] -chr9 124503467 124508385 enhancer 0 + 124503467 124508385 0,128,128 enhancer NotI/BamHI fragment 108491836|GeneID:108491836 18579725|PMID:18579725 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18579725] NotI/BamHI fragment -chr9 124507155 124507479 promoter 0 + 124507155 124507479 0,128,128 promoter -85 to +239 promoter 108491836|GeneID:108491836 17519303|PMID:17519303 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17519303] methylation-dependent promoter -85 to +239 promoter | methylation-dependent promoter -chr9 124507222 124507248 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 124507222 124507248 192,0,0 protein_binding_site Ad4 site 108491836|GeneID:108491836 10965053|PMID:10965053 EXISTENCE:protein binding evidence [ECO:0000024][PMID:10965053] Ad4 site | nuclear receptor subfamily 5 group A member 1 -chr9 124507349 124507494 promoter 0 + 124507349 124507494 0,128,128 promoter StuI/FspI fragment for -97 promoter 108491836|GeneID:108491836 10965053|PMID:10965053 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:10965053] StuI/FspI fragment for -97 promoter -chr9 124507465 124507491 protein_bind: upstream transcription factor 1 and 2 0 + 124507465 124507491 192,0,0 protein_binding_site E-box probe 108491836|GeneID:108491836 18165439|PMID:18165439 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18165439] positive regulation of expression in endometrial cells E-box probe | positive regulation of expression in endometrial cells | upstream transcription factor 1 and 2 -chr9 124507475 124507481 transcriptional_cis_regulatory_region 0 + 124507475 124507481 0,128,128 region E-box 108491836|GeneID:108491836 10965053|PMID:10965053 EXISTENCE:site-directed mutagenesis evidence [ECO:0005528][PMID:10965053] required for promoter activity E-box | required for promoter activity -chr9 124507494 124507517 protein_bind: SRY-box 15 0 + 124507494 124507517 192,0,0 protein_binding_site SBM site 108491836|GeneID:108491836 18579725|PMID:18579725 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18579725] positive regulation of transcription SBM site | positive regulation of transcription | SRY-box 15 -chr9 125754654 125756093 enhancer 0 + 125754654 125756093 0,128,128 enhancer VISTA enhancer hs1030 110120968|GeneID:110120968,5090|GeneID:5090 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[6/7] | midbrain (mesencephalon)[6/7] VISTA enhancer hs1030 | enhancer in: hindbrain (rhombencephalon)[6/7] | midbrain (mesencephalon)[6/7] -chr9 125758712 125760374 enhancer 0 + 125758712 125760374 0,128,128 enhancer VISTA enhancer hs818 110120779|GeneID:110120779,5090|GeneID:5090 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs818 | enhancer in: forebrain[6/6] -chr9 125760595 125763163 enhancer 0 + 125760595 125763163 0,128,128 enhancer VISTA enhancer hs1102 110120989|GeneID:110120989,5090|GeneID:5090 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: branchial arch[3/7] VISTA enhancer hs1102 | enhancer in: branchial arch[3/7] -chr9 125883182 125884818 enhancer 0 + 125883182 125884818 0,128,128 enhancer VISTA enhancer hs1017 110120963|GeneID:110120963,5090|GeneID:5090 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[7/9] VISTA enhancer hs1017 | enhancer in: forebrain[7/9] -chr9 126107166 126108655 enhancer 0 + 126107166 126108655 0,128,128 enhancer VISTA enhancer hs987 110120820|GeneID:110120820 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs987 | enhancer in: forebrain[4/5] -chr9 126157394 126158153 enhancer 0 + 126157394 126158153 0,128,128 enhancer VISTA enhancer hs1015 110120962|GeneID:110120962 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/7] VISTA enhancer hs1015 | enhancer in: midbrain (mesencephalon)[4/7] -chr9 126436120 126438460 enhancer 0 + 126436120 126438460 0,128,128 enhancer VISTA enhancer hs186 110120603|GeneID:110120603,89853|GeneID:89853 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[6/8] VISTA enhancer hs186 | enhancer in: midbrain (mesencephalon)[6/8] -chr9 127567020 127567606 enhancer 0 + 127567020 127567606 0,128,128 enhancer amplified fragment containing the chr9:130329548-130329691 (GRCh37) CAGE region 108281127|GeneID:108281127 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chr9:130329548-130329691 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chr9 127567268 127567412 CAGE_cluster 0 + 127567268 127567412 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281127|GeneID:108281127 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr9 127980005 127980137 enhancer 0 + 127980005 127980137 0,128,128 enhancer 106783495|GeneID:106783495 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chr9 130478259 130479710 enhancer 0 + 130478259 130479710 0,128,128 enhancer VISTA enhancer hs1328 110121061|GeneID:110121061,445|GeneID:445 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[3/4] | midbrain (mesencephalon)[4/4] | forebrain[3/4] | trigeminal V (ganglion, cranial)[3/4] VISTA enhancer hs1328 | enhancer in: neural tube[4/4] | hindbrain (rhombencephalon)[3/4] | midbrain (mesencephalon)[4/4] | forebrain[3/4] | trigeminal V (ganglion, cranial)[3/4] -chr9 130665167 130665841 enhancer 0 + 130665167 130665841 0,128,128 enhancer VISTA enhancer hs876 110120794|GeneID:110120794,59335|GeneID:59335 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[7/11] | hindbrain (rhombencephalon)[7/11] | midbrain (mesencephalon)[7/11] | forebrain[7/11] VISTA enhancer hs876 | enhancer in: neural tube[7/11] | hindbrain (rhombencephalon)[7/11] | midbrain (mesencephalon)[7/11] | forebrain[7/11] -chr9 130710128 130852068 mitotic 0 + 130710128 130852068 160,82,45 recombination_feature ABL minor-breakpoint recombination sub-region recombines with the BCR-ABL minor-breakpoint cluster region, producing the e1a2 transcript 107980440|GeneID:107980440 20703256|PMID:20703256 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20703256] ABL minor-breakpoint recombination sub-region recombines with the BCR-ABL minor-breakpoint cluster region, producing the e1a2 transcript -chr9 130711157 130852049 mitotic 0 + 130711157 130852049 160,82,45 recombination_feature ABL major-breakpoint recombination CML sub-region recombines with the BCR-ABL major-breakpoint cluster CML sub-region within the BCR-ABL major-breakpoint cluster region, producing the e13a2 and e14a2 transcripts 107980440|GeneID:107980440 20703256|PMID:20703256 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20703256] ABL major-breakpoint recombination CML sub-region recombines with the BCR-ABL major-breakpoint cluster CML sub-region within the BCR-ABL major-breakpoint cluster region, producing the e13a2 and e14a2 transcripts -chr9 130725543 130853044 mitotic 0 + 130725543 130853044 160,82,45 recombination_feature ABL major-breakpoint cluster ALL sub-region recombines with the BCR-ABL major-breakpoint cluster ALL sub-region within the BCR-ABL major-breakpoint cluster region, producing the e13a2 and e14a2 transcripts 107980440|GeneID:107980440,25|GeneID:25 20703256|PMID:20703256 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20703256] ABL major-breakpoint cluster ALL sub-region recombines with the BCR-ABL major-breakpoint cluster ALL sub-region within the BCR-ABL major-breakpoint cluster region, producing the e13a2 and e14a2 transcripts -chr9 130763556 130767865 meiotic 0 + 130763556 130767865 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU population 107980440|GeneID:107980440,25|GeneID:25 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU population -chr9 130763689 130767865 meiotic 0 + 130763689 130767865 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap YRI population 107980440|GeneID:107980440,25|GeneID:25 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap YRI population -chr9 130764901 130766219 meiotic 0 + 130764901 130766219 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype 107980440|GeneID:107980440,25|GeneID:25 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/C genotype -chr9 130769146 130770005 meiotic 0 + 130769146 130770005 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype 107980440|GeneID:107980440,25|GeneID:25 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A genotype -chr9 130781893 130781960 meiotic 0 + 130781893 130781960 160,82,45 recombination_feature this region was identified as a recombination hotspot within the HapMap CEU and YRI populations 107980440|GeneID:107980440,25|GeneID:25 20981099|PMID:20981099 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:20981099] this region was identified as a recombination hotspot within the HapMap CEU and YRI populations -chr9 130794312 130796731 misc_structure: region with an inverted repeat containing 243 nt of perfect identity separated by nearly 2000 nucleotides [PMID:23588714] 0 + 130794312 130796731 0,0,0 sequence_secondary_structure region with an inverted repeat containing 243 nt of perfect identity separated by nearly 2000 nucleotides [PMID:23588714] 107980440|GeneID:107980440,25|GeneID:25 23588714|PMID:23588714 region with an inverted repeat containing 243 nt of perfect identity separated by nearly 2000 nucleotides [PMID:23588714] -chr9 130809812 130833709 mitotic 0 + 130809812 130833709 160,82,45 recombination_feature ABL micro-breakpoint recombination sub-region recombines with the BCR-ABL micro-breakpoint cluster region, producing the e19a2 transcript 107980440|GeneID:107980440,25|GeneID:25 15843824|PMID:15843824 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15843824] ABL micro-breakpoint recombination sub-region recombines with the BCR-ABL micro-breakpoint cluster region, producing the e19a2 transcript -chr9 130853638 130854063 mitotic 0 + 130853638 130854063 160,82,45 recombination_feature ABL p225 breakpoint recombination sub-region, recombines with the BCR-ABL p225 breakpoint cluster region, producing the e18a2 transcript 107980440|GeneID:107980440,25|GeneID:25 17268511|PMID:17268511,26252834|PMID:26252834 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:26252834, PMID:17268511] ABL p225 breakpoint recombination sub-region, recombines with the BCR-ABL p225 breakpoint cluster region, producing the e18a2 transcript -chr9 130854139 130854140 mitotic 0 + 130854139 130854140 160,82,45 recombination_feature ABL e15a2 breakpoint recombination sub-region recombines with the BCR e15a2 breakpoint recombination sub-region within the BCR-ABL major-breakpont cluster region, producing the e15a2 transcript 107980440|GeneID:107980440,25|GeneID:25 11392325|PMID:11392325 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11392325] ABL e15a2 breakpoint recombination sub-region recombines with the BCR e15a2 breakpoint recombination sub-region within the BCR-ABL major-breakpont cluster region, producing the e15a2 transcript -chr9 131046747 131047021 enhancer_blocking_element 0 + 131046747 131047021 0,128,128 insulator candidate insulator 9-5; strong CTCF association in K562 cells 108491829|GeneID:108491829,10319|GeneID:10319 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 9-5; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr9 131057957 131058172 enhancer_blocking_element 0 + 131057957 131058172 0,128,128 insulator candidate insulator 9-2; strong CTCF association in K562 cells 108491827|GeneID:108491827,10319|GeneID:10319 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 9-2; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr9 131178346 131178596 enhancer_blocking_element 0 + 131178346 131178596 0,128,128 insulator candidate insulator 9-3; strong CTCF association in K562 cells 108491830|GeneID:108491830,8021|GeneID:8021 24098520|PMID:24098520 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24098520] blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells candidate insulator 9-3; strong CTCF association in K562 cells | blocks activity of an enhancer in a lentiviral reporter assay in K562 erythroleukemia cells -chr9 131234908 131239797 enhancer 0 + 131234908 131239797 0,128,128 enhancer VISTA enhancer hs1963 110121234|GeneID:110121234 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: somite[12/14] | branchial arch[11/14] | heart[12/14] VISTA enhancer hs1963 | enhancer in: somite[12/14] | branchial arch[11/14] | heart[12/14] -chr9 133676520 133677664 enhancer 0 + 133676520 133677664 0,128,128 enhancer amplified fragment containing the chr9:136541641-136542786 (GRCh37) CAGE-defined region 108353822|GeneID:108353822 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] transcribed enhancer in T cells amplified fragment containing the chr9:136541641-136542786 (GRCh37) CAGE-defined region | transcribed enhancer in T cells -chr9 134372643 134373270 CAGE_cluster 0 + 134372643 134373270 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108254665|GeneID:108254665,6256|GeneID:6256 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chr9 134372700 134373226 enhancer 0 + 134372700 134373226 0,128,128 enhancer amplified fragment containing most of the chr9:137264490-137265116 (GRCh37) CAGE region 108254665|GeneID:108254665,6256|GeneID:6256 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] high expression transcribed enhancer in HeLa and HepG2 cells amplified fragment containing most of the chr9:137264490-137265116 (GRCh37) CAGE region | high expression transcribed enhancer in HeLa and HepG2 cells -chr9 136250813 136252487 meiotic 0 + 136250813 136252487 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 108254693|GeneID:108254693 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr9 136251823 136251836 nucleotide_motif 0 + 136251823 136251836 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108254693|GeneID:108254693,100188917|GeneID:100188917 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 136252130 136252143 nucleotide_motif 0 + 136252130 136252143 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108254693|GeneID:108254693 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 136252417 136252430 nucleotide_motif 0 + 136252417 136252430 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108254693|GeneID:108254693 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 136253669 136253724 recombination_hotspot 0 + 136253669 136253724 160,82,45 recombination_feature EGL057 recombination breakpoint sub-region, resulting in a terminal deletion 108254693|GeneID:108254693 21729882|PMID:21729882 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:21729882] EGL057 recombination breakpoint sub-region, resulting in a terminal deletion -chr9 136253675 136253688 nucleotide_motif 0 + 136253675 136253688 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108254693|GeneID:108254693 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 136253786 136253799 nucleotide_motif 0 + 136253786 136253799 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108254693|GeneID:108254693 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 136257605 136258670 meiotic 0 + 136257605 136258670 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 108254693|GeneID:108254693 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr9 136258053 136258066 nucleotide_motif 0 + 136258053 136258066 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108254693|GeneID:108254693 19165926|PMID:19165926 COORDINATES:motif similarity evidence [ECO:0000028][PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 136258367 136258458 recombination_hotspot 0 + 136258367 136258458 160,82,45 recombination_feature EGL096 recombination proximal breakpoint sub-region, recombines with the EGL096 recombination distal breakpoint sub-region within the 9q34.3 CACNA1B recombination region, resulting in an interstitial deletion 108254693|GeneID:108254693 21729882|PMID:21729882 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:21729882] EGL096 recombination proximal breakpoint sub-region, recombines with the EGL096 recombination distal breakpoint sub-region within the 9q34.3 CACNA1B recombination region, resulting in an interstitial deletion -chr9 136568506 136573895 enhancer 0 + 136568506 136573895 0,128,128 enhancer VISTA enhancer hs2207 110121282|GeneID:110121282 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[5/6] | hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] VISTA enhancer hs2207 | enhancer in: neural tube[5/6] | hindbrain (rhombencephalon)[5/6] | midbrain (mesencephalon)[5/6] -chr9 137287225 137293334 recombination_hotspot 0 + 137287225 137293334 160,82,45 recombination_feature locus 2 recombination breakpoint sub-region, resulting in interstitial deletions 108281114|GeneID:108281114 19293338|PMID:19293338 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:19293338] locus 2 recombination breakpoint sub-region, resulting in interstitial deletions -chr9 137289045 137290293 meiotic 0 + 137289045 137290293 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 108281114|GeneID:108281114 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chr9 137289713 137289726 nucleotide_motif 0 + 137289713 137289726 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281114|GeneID:108281114 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137290055 137290068 nucleotide_motif 0 + 137290055 137290068 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281114|GeneID:108281114 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137500381 137503632 meiotic 0 + 137500381 137503632 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 108281113|GeneID:108281113 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chr9 137500787 137500800 nucleotide_motif 0 + 137500787 137500800 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137502432 137505297 recombination_hotspot 0 + 137502432 137505297 160,82,45 recombination_feature locus 1 recombination breakpoint sub-region, resulting in a terminal deletion 108281113|GeneID:108281113 19293338|PMID:19293338 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:19293338] locus 1 recombination breakpoint sub-region, resulting in a terminal deletion -chr9 137502855 137502871 nucleotide_motif 0 + 137502855 137502871 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503441 137503457 nucleotide_motif 0 + 137503441 137503457 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503460 137503476 nucleotide_motif 0 + 137503460 137503476 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503479 137503495 nucleotide_motif 0 + 137503479 137503495 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503498 137503514 nucleotide_motif 0 + 137503498 137503514 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503536 137503552 nucleotide_motif 0 + 137503536 137503552 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503571 137503587 nucleotide_motif 0 + 137503571 137503587 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503590 137503606 nucleotide_motif 0 + 137503590 137503606 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137503632 137503648 nucleotide_motif 0 + 137503632 137503648 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 108281113|GeneID:108281113 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chr9 137839730 137842401 recombination_hotspot 0 + 137839730 137842401 160,82,45 recombination_feature locus 3 recombination breakpoint sub-region, resulting in interstitial deletions 108281115|GeneID:108281115 19293338|PMID:19293338 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:19293338] locus 3 recombination breakpoint sub-region, resulting in interstitial deletions -chr9 137840955 137841757 meiotic 0 + 137840955 137841757 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype 108281115|GeneID:108281115 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/B genotype -chr9 137841138 137841151 nucleotide_motif 0 + 137841138 137841151 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841163 137841176 nucleotide_motif 0 + 137841163 137841176 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841196 137841209 nucleotide_motif 0 + 137841196 137841209 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841248 137841261 nucleotide_motif 0 + 137841248 137841261 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841300 137841313 nucleotide_motif 0 + 137841300 137841313 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841377 137841390 nucleotide_motif 0 + 137841377 137841390 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841394 137841407 nucleotide_motif 0 + 137841394 137841407 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841427 137841440 nucleotide_motif 0 + 137841427 137841440 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841479 137841492 nucleotide_motif 0 + 137841479 137841492 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841496 137841509 nucleotide_motif 0 + 137841496 137841509 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841521 137841534 nucleotide_motif 0 + 137841521 137841534 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841546 137841559 nucleotide_motif 0 + 137841546 137841559 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841571 137841584 nucleotide_motif 0 + 137841571 137841584 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841604 137841617 nucleotide_motif 0 + 137841604 137841617 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841681 137841694 nucleotide_motif 0 + 137841681 137841694 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841698 137841711 nucleotide_motif 0 + 137841698 137841711 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841723 137841736 nucleotide_motif 0 + 137841723 137841736 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 137841748 137841761 nucleotide_motif 0 + 137841748 137841761 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108281115|GeneID:108281115 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chr9 138013212 138013457 recombination_hotspot 0 + 138013212 138013457 160,82,45 recombination_feature EGL096 recombination distal breakpoint sub-region, recombines with the EGL096 recombination proximal breakpoint sub-region within the 9q34.3 QSOX2 distal recombination region, resulting in an interstitial deletion 108254695|GeneID:108254695,774|GeneID:774 21729882|PMID:21729882 EXISTENCE:DNA microarray evidence [ECO:0005524][PMID:21729882] EGL096 recombination distal breakpoint sub-region, recombines with the EGL096 recombination proximal breakpoint sub-region within the 9q34.3 QSOX2 distal recombination region, resulting in an interstitial deletion -chrM 3106 3107 preserves historical genome annotation numbering 0 + 3106 3107 192,0,192 sequence_feature preserves historical genome annotation numbering 4550|GeneID:4550 preserves historical genome annotation numbering -chrUn_GL000220v1 141823 142302 rep_origin: CHB (probe 7) 0 + 141823 142302 0,0,0 origin_of_replication CHB (probe 7); HindIII/BamHI fragment; detected by hybridization of labeled, size-fractionated nascent DNA to discrete probes 107403080|GeneID:107403080 7739533|PMID:7739533 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:7739533] major site of nascent strand synthesis CHB (probe 7); HindIII/BamHI fragment; detected by hybridization of labeled, size-fractionated nascent DNA to discrete probes | major site of nascent strand synthesis -chrUn_GL000220v1 141866 142042 rep_origin: amplicon 5 0 + 141866 142042 0,0,0 origin_of_replication amplicon 5; detected by PCR of size-fractionated nascent DNA 107403080|GeneID:107403080 16721058|PMID:16721058 EXISTENCE:fractionation evidence [ECO:0000100][PMID:16721058] minor peak of nascent strand synthesis amplicon 5; detected by PCR of size-fractionated nascent DNA | minor peak of nascent strand synthesis -chrUn_GL000220v1 143360 143390 nucleotide_motif 0 + 143360 143390 192,0,192 sequence_feature nucleotide motif; similar to yeast ARS consensus sequence (ACS) 107403080|GeneID:107403080 19633418|PMID:19633418 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:19633418] nucleotide motif; similar to yeast ARS consensus sequence (ACS) -chrUn_GL000220v1 143842 144203 rep_origin: amplicon 7 0 + 143842 144203 0,0,0 origin_of_replication amplicon 7; detected by PCR of size-fractionated nascent DNA 107403080|GeneID:107403080 16082215|PMID:16082215,16721058|PMID:16721058 EXISTENCE:fractionation evidence [ECO:0000100][PMID:16082215, PMID:16721058] peak of nascent strand synthesis in early and late S phase amplicon 7; detected by PCR of size-fractionated nascent DNA | peak of nascent strand synthesis in early and late S phase -chrUn_GL000220v1 145139 145163 protein_bind: serine/arginine-rich splicing factor 1 0 + 145139 145163 192,0,0 protein_binding_site 31 bp probe used to isolate proteins subject to MALDI-TOF analysis 107403080|GeneID:107403080 19633418|PMID:19633418 EXISTENCE:DNA affinity chromatography evidence [ECO:0001809][PMID:19633418] 31 bp probe used to isolate proteins subject to MALDI-TOF analysis | serine/arginine-rich splicing factor 1 -chrUn_GL000220v1 145144 145162 nucleotide_motif 0 + 145144 145162 192,0,192 sequence_feature nucleotide motif; similar to yeast ARS consensus sequence (ACS) 107403080|GeneID:107403080 19633418|PMID:19633418 COORDINATES:sequence similarity evidence [ECO:0000044][PMID:19633418] nucleotide motif; similar to yeast ARS consensus sequence (ACS) -chrUn_GL000220v1 145578 145591 misc_structure: intrinsic bending region 0 + 145578 145591 0,0,0 sequence_secondary_structure intrinsic bending region; MboII site marking center of DNA bending; detected by analyzing electrophoretic mobilities of restriction fragments (circular permutation analysis) 107403080|GeneID:107403080 16721058|PMID:16721058 EXISTENCE:gel electrophoresis evidence [ECO:0000337][PMID:16721058] intrinsic bending region; MboII site marking center of DNA bending; detected by analyzing electrophoretic mobilities of restriction fragments (circular permutation analysis) -chrUn_GL000220v1 145599 145928 rep_origin: amplicon 10 0 + 145599 145928 0,0,0 origin_of_replication amplicon 10; detected by PCR of size-fractionated nascent DNA 107403080|GeneID:107403080 16082215|PMID:16082215,16721058|PMID:16721058 EXISTENCE:fractionation evidence [ECO:0000100][PMID:16082215, PMID:16721058] peak of nascent strand synthesis in mid-late S phase amplicon 10; detected by PCR of size-fractionated nascent DNA | peak of nascent strand synthesis in mid-late S phase -chrUn_GL000220v1 147482 152565 rep_origin: region spanning probes Corb and Bsn 0 + 147482 152565 0,0,0 origin_of_replication region spanning probes Corb and Bsn; detected by hybridization of discrete probes to labeled nascent DNA isolated from cell-cycle synchronized cells 107403080|GeneID:107403080 9358159|PMID:9358159 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:9358159] major site of early S phase replication region spanning probes Corb and Bsn; detected by hybridization of discrete probes to labeled nascent DNA isolated from cell-cycle synchronized cells | major site of early S phase replication -chrX 437621 438172 enhancer 0 + 437621 438172 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102724521|GeneID:102724521 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-5 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrX 437621 438215 enhancer 0 + 437621 438215 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102724521|GeneID:102724521 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-5 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX 437748 437870 conserved_region 0 + 437748 437870 192,0,192 sequence_feature conserved region; CRCNE00011074 more deeply conserved sub-region 108353830|GeneID:108353830,102724521|GeneID:102724521 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011074 more deeply conserved sub-region -chrX 437910 438073 conserved_region 0 + 437910 438073 192,0,192 sequence_feature conserved region; CRCNE00011082 more deeply conserved sub-region 108353830|GeneID:108353830,102724521|GeneID:102724521 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011082 more deeply conserved sub-region -chrX 499543 499929 enhancer 0 + 499543 499929 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-3 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX 499544 499929 enhancer 0 + 499544 499929 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-3 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrX 555874 556494 enhancer 0 + 555874 556494 0,128,128 enhancer CNE-2 PCR-amplified reporter construct fragment 108353832|GeneID:108353832 19997128|PMID:19997128,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128, PMID:26631348] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE-2 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrX 555931 556231 conserved_region 0 + 555931 556231 192,0,192 sequence_feature conserved region; CRCNE00011089 more deeply conserved sub-region 108353832|GeneID:108353832 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011089 more deeply conserved sub-region -chrX 633052 636134 meiotic 0 + 633052 636134 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107652445|GeneID:107652445,6473|GeneID:6473 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 633275 636275 meiotic 0 + 633275 636275 160,82,45 recombination_feature crossovers mapped in sperm cells of males of northern European ancestry 107652445|GeneID:107652445,6473|GeneID:6473 12089524|PMID:12089524 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:12089524] crossovers mapped in sperm cells of males of northern European ancestry -chrX 634353 634370 nucleotide_motif 0 + 634353 634370 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107652445|GeneID:107652445,6473|GeneID:6473 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrX 753348 754018 enhancer 0 + 753348 754018 0,128,128 enhancer CNE4 PCR-amplified transgene fragment 108383234|GeneID:108383234 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo fin, cardiovascular system, brain, skin, muscle, notochord and ear CNE4 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo fin, cardiovascular system, brain, skin, muscle, notochord and ear -chrX 753349 754004 enhancer 0 + 753349 754004 0,128,128 enhancer CNE4 PCR-amplified reporter construct fragment 108383234|GeneID:108383234 17200153|PMID:17200153,22791839|PMID:22791839,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17200153, PMID:26631348, PMID:22791839] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE4 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrX 753628 753714 conserved_region 0 + 753628 753714 192,0,192 sequence_feature conserved region; CRCNE00011095 more deeply conserved sub-region 108383234|GeneID:108383234 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011095 more deeply conserved sub-region -chrX 753635 753735 enhancer 0 + 753635 753735 0,128,128 enhancer CRCNE00011095 PCR-amplified transgene fragment 108383234|GeneID:108383234 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo skin, with some activity in fin, muscle and heart CRCNE00011095 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo skin, with some activity in fin, muscle and heart -chrX 790088 791115 enhancer 0 + 790088 791115 0,128,128 enhancer CNE5 PCR-amplified transgene fragment 108383235|GeneID:108383235 23575226|PMID:23575226 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23575226] enhancer in mouse E11.5-E12.5 neural tissue, especially in hindbrain CNE5 PCR-amplified transgene fragment | enhancer in mouse E11.5-E12.5 neural tissue, especially in hindbrain -chrX 790089 791115 enhancer 0 + 790089 791115 0,128,128 enhancer CNE5 reporter construct fragment 108383235|GeneID:108383235 17200153|PMID:17200153,22791839|PMID:22791839,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17200153, PMID:22791839, PMID:26631348] enhancer in ovo in chicken limb buds, in day 2 and day 3 zebrafish embryo brain, skin, heart, fins, muscle, notochord and eye, and in human U2OS osteosarcoma cells CNE5 reporter construct fragment | enhancer in ovo in chicken limb buds, in day 2 and day 3 zebrafish embryo brain, skin, heart, fins, muscle, notochord and eye, and in human U2OS osteosarcoma cells -chrX 790099 790149 conserved_region 0 + 790099 790149 192,0,192 sequence_feature conserved region; CRCNE00011075 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011075 more deeply conserved sub-region -chrX 790286 790346 conserved_region 0 + 790286 790346 192,0,192 sequence_feature conserved region; CRCNE00011096 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011096 more deeply conserved sub-region -chrX 790449 790736 conserved_region 0 + 790449 790736 192,0,192 sequence_feature conserved region; CRCNE00011097 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011097 more deeply conserved sub-region -chrX 790785 790950 conserved_region 0 + 790785 790950 192,0,192 sequence_feature conserved region; CRCNE00011098 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011098 more deeply conserved sub-region -chrX 790962 791022 conserved_region 0 + 790962 791022 192,0,192 sequence_feature conserved region; CRCNE00011099 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011099 more deeply conserved sub-region -chrX 805128 805625 enhancer 0 + 805128 805625 0,128,128 enhancer CNE6 PCR-amplified transgene fragment 108383236|GeneID:108383236 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in diverse tissues in zebrafish embryos, especially heart and ear at day 2, and muscle, ear, eye and heart at day 3 CNE6 PCR-amplified transgene fragment | enhancer in diverse tissues in zebrafish embryos, especially heart and ear at day 2, and muscle, ear, eye and heart at day 3 -chrX 805373 805462 conserved_region 0 + 805373 805462 192,0,192 sequence_feature conserved region; CRCNE00011100 more deeply conserved sub-region 108383236|GeneID:108383236 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011100 more deeply conserved sub-region -chrX 819352 820259 meiotic 0 + 819352 820259 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the X chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype 108251802|GeneID:108251802 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the X chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype -chrX 819453 820444 meiotic 0 + 819453 820444 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 108251802|GeneID:108251802 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chrX 819813 819815 chromosome_breakpoint 0 + 819813 819815 160,82,45 recombination_feature distal breakpoint sub-region, recombines with the proximal breakpoint sub-region within the SHOX downstream enhancer, proximal recombination region, resulting in a recurrent 47.5 kb deletion 108251802|GeneID:108251802 22791839|PMID:22791839 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22791839] distal breakpoint sub-region, recombines with the proximal breakpoint sub-region within the SHOX downstream enhancer, proximal recombination region, resulting in a recurrent 47.5 kb deletion -chrX 819845 820500 enhancer 0 + 819845 820500 0,128,128 enhancer ECR1 PCR-amplified reporter construct fragment 108383238|GeneID:108383238 22791839|PMID:22791839 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22791839] enhancer in human U2OS osteosarcoma cells ECR1 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX 819964 820485 enhancer 0 + 819964 820485 0,128,128 enhancer CNE7 PCR-amplified transgene fragment 108383238|GeneID:108383238 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in zebrafish embryos in day 2 skin, and in day 2 and day 3 brain, fin and cardiovascular system CNE7 PCR-amplified transgene fragment | enhancer in zebrafish embryos in day 2 skin, and in day 2 and day 3 brain, fin and cardiovascular system -chrX 820048 820220 conserved_region 0 + 820048 820220 192,0,192 sequence_feature conserved region; CRCNE00011101 more deeply conserved sub-region 108383238|GeneID:108383238 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011101 more deeply conserved sub-region -chrX 820287 820397 conserved_region 0 + 820287 820397 192,0,192 sequence_feature conserved region; CRCNE00011102 more deeply conserved sub-region 108383238|GeneID:108383238 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011102 more deeply conserved sub-region -chrX 850814 851565 enhancer 0 + 850814 851565 0,128,128 enhancer CNE8 PCR-amplified transgene fragment 108410391|GeneID:108410391 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo skin, fin, central nervous system, muscle and heart CNE8 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo skin, fin, central nervous system, muscle and heart -chrX 851009 851316 conserved_region 0 + 851009 851316 192,0,192 sequence_feature conserved region; CRCNE00011103 more deeply conserved sub-region 108410391|GeneID:108410391 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011103 more deeply conserved sub-region -chrX 856167 874963 enhancer 0 + 856167 874963 0,128,128 enhancer 18796 nt extended CNE9 fragment from 19kbCNE9-betalacZ transgene 108410392|GeneID:108410392 23575226|PMID:23575226 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23575226] enhancer in mouse E13.5 embryo fore and hind limbs, mostly restricted to the zeugopodium, also weakly in hindbrain, and in E13.5-14.5 radius and ulna mesenchyme 18796 nt extended CNE9 fragment from 19kbCNE9-betalacZ transgene | enhancer in mouse E13.5 embryo fore and hind limbs, mostly restricted to the zeugopodium, also weakly in hindbrain, and in E13.5-14.5 radius and ulna mesenchyme -chrX 866904 867930 meiotic 0 + 866904 867930 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype 108251803|GeneID:108251803 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype -chrX 867246 867422 retrotransposon:L1PA3 0 + 867246 867422 0,0,192 mobile_genetic_element direction; reverse 108251803|GeneID:108251803 direction; reverse -chrX 867356 867358 chromosome_breakpoint 0 + 867356 867358 160,82,45 recombination_feature proximal breakpoint sub-region, recombines with the distal breakpoint sub-region within the SHOX downstream enhancer, distal recombination region, resulting in a recurrent 47.5 kb deletion 108251803|GeneID:108251803 22791839|PMID:22791839 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22791839] proximal breakpoint sub-region, recombines with the distal breakpoint sub-region within the SHOX downstream enhancer, distal recombination region, resulting in a recurrent 47.5 kb deletion -chrX 867378 867391 nucleotide_motif 0 + 867378 867391 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108251803|GeneID:108251803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 874004 874837 enhancer 0 + 874004 874837 0,128,128 enhancer CNE9 PCR-amplified transgene fragment 108410392|GeneID:108410392 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo eye, fin and blood CNE9 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo eye, fin and blood -chrX 874008 874833 enhancer 0 + 874008 874833 0,128,128 enhancer CNE9 fragment from short CNE9-betalacZ transgene 108410392|GeneID:108410392 23575226|PMID:23575226 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23575226] enhancer in mouse E12.5 neural tissues, including hindbrain and neural tube CNE9 fragment from short CNE9-betalacZ transgene | enhancer in mouse E12.5 neural tissues, including hindbrain and neural tube -chrX 874010 874832 enhancer 0 + 874010 874832 0,128,128 enhancer CNE9 or ECS4 reporter construct fragment 108410392|GeneID:108410392 16385461|PMID:16385461,17200153|PMID:17200153,22791839|PMID:22791839,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16385461, PMID:17200153, PMID:22791839, PMID:26631348] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE9 or ECS4 reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrX 874455 874604 conserved_region 0 + 874455 874604 192,0,192 sequence_feature conserved region; CRCNE00011104 more deeply conserved sub-region 108410392|GeneID:108410392 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011104 more deeply conserved sub-region -chrX 874654 874699 conserved_region 0 + 874654 874699 192,0,192 sequence_feature conserved region; CRCNE00011105 more deeply conserved sub-region 108410392|GeneID:108410392 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011105 more deeply conserved sub-region -chrX 6531190 6535356 meiotic 0 + 6531190 6535356 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B, and PRDM9 A/C genotypes 106029240|GeneID:106029240 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B, and PRDM9 A/C genotypes -chrX 6532436 6534033 non_allelic_homologous 0 + 6532436 6534033 160,82,45 recombination_feature sub-region a, recombines with sub-region a' within the S232-VCX2 recombination region 106029240|GeneID:106029240 15888481|PMID:15888481 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15888481] sub-region a, recombines with sub-region a' within the S232-VCX2 recombination region -chrX 6532722 6532735 nucleotide_motif 0 + 6532722 6532735 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6532764 6533784 tandem 0 + 6532764 6533784 0,0,192 repeat_region variable number tandem repeat (VNTR); RU2 (repeating unit 2) with a with a variable number of a tetranucleotide repeat (GGGA, TCCC on the complementary strand) within the repeat 106029240|GeneID:106029240 1549475|PMID:1549475 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1549475] variable number tandem repeat (VNTR); RU2 (repeating unit 2) with a with a variable number of a tetranucleotide repeat (GGGA, TCCC on the complementary strand) within the repeat -chrX 6532796 6532809 nucleotide_motif 0 + 6532796 6532809 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6532822 6532835 nucleotide_motif 0 + 6532822 6532835 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6532855 6532868 nucleotide_motif 0 + 6532855 6532868 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6532885 6532898 nucleotide_motif 0 + 6532885 6532898 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6532918 6532931 nucleotide_motif 0 + 6532918 6532931 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6532977 6532990 nucleotide_motif 0 + 6532977 6532990 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533036 6533049 nucleotide_motif 0 + 6533036 6533049 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533069 6533082 nucleotide_motif 0 + 6533069 6533082 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533099 6533112 nucleotide_motif 0 + 6533099 6533112 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533132 6533145 nucleotide_motif 0 + 6533132 6533145 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533162 6533175 nucleotide_motif 0 + 6533162 6533175 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533195 6533208 nucleotide_motif 0 + 6533195 6533208 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533228 6533241 nucleotide_motif 0 + 6533228 6533241 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533258 6533271 nucleotide_motif 0 + 6533258 6533271 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533288 6533301 nucleotide_motif 0 + 6533288 6533301 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533350 6533363 nucleotide_motif 0 + 6533350 6533363 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533379 6533392 nucleotide_motif 0 + 6533379 6533392 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533412 6533425 nucleotide_motif 0 + 6533412 6533425 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533445 6533458 nucleotide_motif 0 + 6533445 6533458 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533475 6533488 nucleotide_motif 0 + 6533475 6533488 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533508 6533521 nucleotide_motif 0 + 6533508 6533521 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533541 6533554 nucleotide_motif 0 + 6533541 6533554 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533578 6533591 nucleotide_motif 0 + 6533578 6533591 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029240|GeneID:106029240 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 6533758 6533996 tandem 0 + 6533758 6533996 0,0,192 repeat_region variable number tandem repeat (VNTR); RU1 (repeating unit 1) with a 30 nt motif, and 8 repeat units in the GRCh38 reference assembly 106029240|GeneID:106029240 1549475|PMID:1549475 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1549475] variable number tandem repeat (VNTR); RU1 (repeating unit 1) with a 30 nt motif, and 8 repeat units in the GRCh38 reference assembly -chrX 6534244 6534260 nucleotide_motif 0 + 6534244 6534260 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106029240|GeneID:106029240 nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrX 6534448 6534464 nucleotide_motif 0 + 6534448 6534464 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106029240|GeneID:106029240 nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrX 8167267 8173712 meiotic 0 + 8167267 8173712 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B, and PRDM9 A/C genotypes 106029241|GeneID:106029241,107985675|GeneID:107985675 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B, and PRDM9 A/C genotypes -chrX 8168789 8170037 non_allelic_homologous 0 + 8168789 8170037 160,82,45 recombination_feature sub-region a', recombines with sub-region a within the S232-VCX2 recombination region 106029241|GeneID:106029241,107985675|GeneID:107985675 15888481|PMID:15888481 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:15888481] sub-region a', recombines with sub-region a within the S232-VCX2 recombination region -chrX 8169075 8169088 nucleotide_motif 0 + 8169075 8169088 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169124 8170058 tandem 0 + 8169124 8170058 0,0,192 repeat_region variable number tandem repeat (VNTR); RU2 (repeating unit 2) with a variable number of a tetranucleotide repeat (GGGA, TCCC on the complementary strand) within the repeat 106029241|GeneID:106029241,107985675|GeneID:107985675 1549475|PMID:1549475 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1549475] variable number tandem repeat (VNTR); RU2 (repeating unit 2) with a variable number of a tetranucleotide repeat (GGGA, TCCC on the complementary strand) within the repeat -chrX 8169145 8169158 nucleotide_motif 0 + 8169145 8169158 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169178 8169191 nucleotide_motif 0 + 8169178 8169191 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169211 8169224 nucleotide_motif 0 + 8169211 8169224 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169244 8169257 nucleotide_motif 0 + 8169244 8169257 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169277 8169290 nucleotide_motif 0 + 8169277 8169290 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169310 8169323 nucleotide_motif 0 + 8169310 8169323 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169343 8169356 nucleotide_motif 0 + 8169343 8169356 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169376 8169389 nucleotide_motif 0 + 8169376 8169389 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169409 8169422 nucleotide_motif 0 + 8169409 8169422 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169442 8169455 nucleotide_motif 0 + 8169442 8169455 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169471 8169484 nucleotide_motif 0 + 8169471 8169484 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169504 8169517 nucleotide_motif 0 + 8169504 8169517 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169537 8169550 nucleotide_motif 0 + 8169537 8169550 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169570 8169583 nucleotide_motif 0 + 8169570 8169583 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169599 8169612 nucleotide_motif 0 + 8169599 8169612 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169632 8169645 nucleotide_motif 0 + 8169632 8169645 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169661 8169674 nucleotide_motif 0 + 8169661 8169674 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169694 8169707 nucleotide_motif 0 + 8169694 8169707 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169731 8169744 nucleotide_motif 0 + 8169731 8169744 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169764 8169777 nucleotide_motif 0 + 8169764 8169777 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169797 8169810 nucleotide_motif 0 + 8169797 8169810 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169834 8169847 nucleotide_motif 0 + 8169834 8169847 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169867 8169880 nucleotide_motif 0 + 8169867 8169880 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8169904 8169917 nucleotide_motif 0 + 8169904 8169917 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 8170082 8170142 tandem 0 + 8170082 8170142 0,0,192 repeat_region variable number tandem repeat (VNTR); RU1 (repeating unit 1) with a 30 nt repeat motif, and 2 repeats units in the GRCh38 reference assembly 106029241|GeneID:106029241,107985675|GeneID:107985675 1549475|PMID:1549475 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:1549475] variable number tandem repeat (VNTR); RU1 (repeating unit 1) with a 30 nt repeat motif, and 2 repeats units in the GRCh38 reference assembly -chrX 8170390 8170406 nucleotide_motif 0 + 8170390 8170406 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrX 8170594 8170610 nucleotide_motif 0 + 8170594 8170610 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 106029241|GeneID:106029241,107985675|GeneID:107985675 nucleotide motif; similarity, but not exact identity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrX 15674386 15674890 enhancer 0 + 15674386 15674890 0,128,128 enhancer 106799844|GeneID:106799844 17135569|PMID:17135569 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17135569] enhancer in Jurkat T cells enhancer in Jurkat T cells -chrX 24876217 24877967 enhancer 0 + 24876217 24877967 0,128,128 enhancer VISTA enhancer hs118 110120592|GeneID:110120592,5422|GeneID:5422 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[3/8] VISTA enhancer hs118 | enhancer in: midbrain (mesencephalon)[3/8] -chrX 24897264 24900155 enhancer 0 + 24897264 24900155 0,128,128 enhancer VISTA enhancer hs119 110120593|GeneID:110120593,5422|GeneID:5422 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[5/6] VISTA enhancer hs119 | enhancer in: forebrain[5/6] -chrX 24989761 24991464 enhancer 0 + 24989761 24991464 0,128,128 enhancer VISTA enhancer hs121 110120594|GeneID:110120594,5422|GeneID:5422 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs121 | enhancer in: forebrain[6/6] -chrX 24998949 25000639 enhancer 0 + 24998949 25000639 0,128,128 enhancer VISTA enhancer hs122 110120595|GeneID:110120595 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[6/6] VISTA enhancer hs122 | enhancer in: forebrain[6/6] -chrX 25000753 25002415 enhancer 0 + 25000753 25002415 0,128,128 enhancer VISTA enhancer hs145 110120597|GeneID:110120597 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: midbrain (mesencephalon)[4/9] | forebrain[8/9] | eye[4/9] VISTA enhancer hs145 | enhancer in: midbrain (mesencephalon)[4/9] | forebrain[8/9] | eye[4/9] -chrX 25013529 25013565 repeat_instability_region 0 + 25013529 25013565 192,0,192 sequence_feature repeat instability region; expansion of polyalanine repeat tract 2 can result in various intellectual disability disorders with variable clinical presentation 109610631|GeneID:109610631 11889467|PMID:11889467,11971879|PMID:11971879,12874418|PMID:12874418 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12874418, PMID:11889467, PMID:11971879] repeat instability region; expansion of polyalanine repeat tract 2 can result in various intellectual disability disorders with variable clinical presentation -chrX 25013649 25013697 repeat_instability_region 0 + 25013649 25013697 192,0,192 sequence_feature repeat instability region; expansion of polyalanine repeat tract 1 can result in various intellectual disability disorders with variable clinical presentation 109610631|GeneID:109610631 11889467|PMID:11889467,17664401|PMID:17664401 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:17664401, PMID:11889467] repeat instability region; expansion of polyalanine repeat tract 1 can result in various intellectual disability disorders with variable clinical presentation -chrX 25013653 25013697 tandem 0 + 25013653 25013697 0,0,192 repeat_region 109610631|GeneID:109610631 repeat_region -chrX 25382106 25384217 enhancer 0 + 25382106 25384217 0,128,128 enhancer VISTA enhancer hs123 110120596|GeneID:110120596 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/4] VISTA enhancer hs123 | enhancer in: forebrain[4/4] -chrX 30309363 30309683 promoter 0 + 30309363 30309683 0,128,128 promoter -290 to +30 108410393|GeneID:108410393 9232190|PMID:9232190 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9232190] core promoter -290 to +30 | core promoter -chrX 30309363 30310946 promoter 0 + 30309363 30310946 0,128,128 promoter -1550 to +30; fragment spanning EcoR1 to translation start site 108410393|GeneID:108410393 9232190|PMID:9232190 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9232190] -1550 to +30; fragment spanning EcoR1 to translation start site -chrX 30309417 30309422 TATA_box 0 + 30309417 30309422 0,128,128 TATA_box 108410393|GeneID:108410393 7677767|PMID:7677767 COORDINATES:motif similarity evidence [ECO:0000028][PMID:7677767] TATA_box -chrX 30309524 30309542 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 30309524 30309542 192,0,0 protein_binding_site SF1-RE 108410393|GeneID:108410393 7677767|PMID:7677767 EXISTENCE:protein binding evidence [ECO:0000024][PMID:7677767] positive regulation of transcription SF1-RE | positive regulation of transcription | nuclear receptor subfamily 5 group A member 1 -chrX 30310420 30310441 protein_bind: androgen receptor 0 + 30310420 30310441 192,0,0 protein_binding_site ARE 108410393|GeneID:108410393 23846226|PMID:23846226 EXISTENCE:protein binding evidence [ECO:0000024][PMID:23846226] ARE | androgen receptor -chrX 30310604 30310958 transcriptional_cis_regulatory_region 0 + 30310604 30310958 0,128,128 region -1595 to -1241 108410393|GeneID:108410393 18591936|PMID:18591936 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18591936] mediates positive regulation of transcription by EWS RNA binding protein 1 -1595 to -1241 | mediates positive regulation of transcription by EWS RNA binding protein 1 -chrX 30310757 30310860 tandem 0 + 30310757 30310860 0,0,192 repeat_region GGAA polymorphic tandem repeat region; repeat number correlates with transcriptional activity 108410393|GeneID:108410393 GGAA polymorphic tandem repeat region; repeat number correlates with transcriptional activity -chrX 30313023 30314190 enhancer 0 + 30313023 30314190 0,128,128 enhancer -4.1 kb CNE (conserved non-coding element) 108410393|GeneID:108410393 19773398|PMID:19773398 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19773398] -4.1 kb CNE (conserved non-coding element) -chrX 30313519 30313724 conserved_region 0 + 30313519 30313724 192,0,192 sequence_feature conserved region; human-mouse conserved sequence 108410393|GeneID:108410393 11923472|PMID:11923472 COORDINATES:sequence alignment evidence [ECO:0000200][PMID:11923472] conserved region; human-mouse conserved sequence -chrX 55015015 55015418 enhancer 0 + 55015015 55015418 0,128,128 enhancer pAp-I8(403)-LUC construct fragment 108511947|GeneID:108511947 9642238|PMID:9642238 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9642238] erythroid enhancer in human K562 cells pAp-I8(403)-LUC construct fragment | erythroid enhancer in human K562 cells -chrX 55015015 55015476 enhancer 0 + 55015015 55015476 0,128,128 enhancer ptk-I8(460)-LUC construct fragment 108511947|GeneID:108511947 9642238|PMID:9642238 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9642238] erythroid enhancer in human K562 and mouse MEL cells ptk-I8(460)-LUC construct fragment | erythroid enhancer in human K562 and mouse MEL cells -chrX 55015179 55015418 enhancer 0 + 55015179 55015418 0,128,128 enhancer pAp-I8(239)-LUC construct fragment; minimal active enhancer fragment containing the CAC-A, CAC-B, GATA-A and GATA-B motifs 108511947|GeneID:108511947 9642238|PMID:9642238 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9642238] erythroid enhancer in human K562 and mouse MEL cells pAp-I8(239)-LUC construct fragment; minimal active enhancer fragment containing the CAC-A, CAC-B, GATA-A and GATA-B motifs | erythroid enhancer in human K562 and mouse MEL cells -chrX 55015183 55015207 protein_bind: GATA binding protein 1 0 + 55015183 55015207 192,0,0 protein_binding_site GATA-B site 108511947|GeneID:108511947 9642238|PMID:9642238,27044088|PMID:27044088 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9642238, PMID:27044088] important for erythroid enhancer activity GATA-B site | important for erythroid enhancer activity | GATA binding protein 1 -chrX 55015219 55015243 protein_bind: GATA binding protein 1 0 + 55015219 55015243 192,0,0 protein_binding_site GATA-A site 108511947|GeneID:108511947 9642238|PMID:9642238,27044088|PMID:27044088 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9642238, PMID:27044088] GATA-A site | GATA binding protein 1 -chrX 55015236 55015257 protein_bind: Sp1 transcription factor 0 + 55015236 55015257 192,0,0 protein_binding_site CAC-B site; CACCC site B 108511947|GeneID:108511947 9642238|PMID:9642238 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9642238] important for erythroid enhancer activity CAC-B site; CACCC site B | important for erythroid enhancer activity | Sp1 transcription factor -chrX 55015298 55015312 protein_bind: Sp1 transcription factor 0 + 55015298 55015312 192,0,0 protein_binding_site CAC-A site; CACCC site A 108511947|GeneID:108511947 9642238|PMID:9642238 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9642238] important for erythroid enhancer activity CAC-A site; CACCC site A | important for erythroid enhancer activity | Sp1 transcription factor -chrX 55023756 55024736 silencer 0 + 55023756 55024736 0,128,128 silencer pAp-I3(850)-LUC construct fragment 108663984|GeneID:108663984 9642238|PMID:9642238 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9642238] erythroid silenecer in human K562 cells pAp-I3(850)-LUC construct fragment | erythroid silenecer in human K562 cells -chrX 55026000 55030982 enhancer 0 + 55026000 55030982 0,128,128 enhancer pAp-I1(4.9kb)-LUC construct fragment 108663984|GeneID:108663984 9642238|PMID:9642238 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9642238] erythroid enhancer in human K562 and mouse MEL cells pAp-I1(4.9kb)-LUC construct fragment | erythroid enhancer in human K562 and mouse MEL cells -chrX 67545316 67545419 tandem 0 + 67545316 67545419 0,0,192 repeat_region 109504725|GeneID:109504725,367|GeneID:367 repeat_region -chrX 67545317 67545383 repeat_instability_region 0 + 67545317 67545383 192,0,192 sequence_feature repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with spinal and bulbar muscular atrophy (SBMA) 109504725|GeneID:109504725,367|GeneID:367 1303283|PMID:1303283,2062380|PMID:2062380,7702080|PMID:7702080 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:2062380, PMID:7702080, PMID:1303283] repeat instability region; expansion of the (CAG)n trinucleotide repeat is associated with spinal and bulbar muscular atrophy (SBMA) -chrX 80014587 80014843 promoter 0 + 80014587 80014843 0,128,128 promoter -167 promoter in TBX22-4 construct 109286564|GeneID:109286564 25373698|PMID:25373698 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25373698] -167 promoter in TBX22-4 construct -chrX 80014671 80014701 protein_bind: ETS proto-oncogene 1, transcription factor 0 + 80014671 80014701 192,0,0 protein_binding_site oligo 1 109286564|GeneID:109286564 25373698|PMID:25373698 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25373698] positive regulation of transcription oligo 1 | positive regulation of transcription | ETS proto-oncogene 1, transcription factor -chrX 82208790 82209567 enhancer 0 + 82208790 82209567 0,128,128 enhancer VISTA enhancer hs582 110120711|GeneID:110120711 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[8/9] VISTA enhancer hs582 | enhancer in: forebrain[8/9] -chrX 82533434 82535122 enhancer 0 + 82533434 82535122 0,128,128 enhancer VISTA enhancer hs426 110120679|GeneID:110120679 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[5/5] | forebrain[5/5] VISTA enhancer hs426 | enhancer in: hindbrain (rhombencephalon)[5/5] | forebrain[5/5] -chrX 124216976 124218737 enhancer 0 + 124216976 124218737 0,128,128 enhancer VISTA enhancer hs1745 110121198|GeneID:110121198 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[7/8] | limb[7/8] | branchial arch[7/8] | cranial nerve[7/8] | nose[6/8] | facial mesenchyme[6/8] | other[7/8] | ear[8/8] VISTA enhancer hs1745 | enhancer in: hindbrain (rhombencephalon)[8/8] | midbrain (mesencephalon)[8/8] | dorsal root ganglion[7/8] | limb[7/8] | branchial arch[7/8] | cranial nerve[7/8] | nose[6/8] | facial mesenchyme[6/8] | other[7/8] | ear[8/8] -chrX 134460081 134460416 rep_origin: 335 bp fragment for promoter/exon 1 0 + 134460081 134460416 0,0,0 origin_of_replication 335 bp fragment for promoter/exon 1; confers replication ability to mouse-human fusion construct as measured by quantitative PCR of nascent strands 107032760|GeneID:107032760 12616531|PMID:12616531 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:12616531] 335 bp fragment for promoter/exon 1; confers replication ability to mouse-human fusion construct as measured by quantitative PCR of nascent strands -chrX 134460480 134460978 rep_origin: amplicons 6 and 7 0 + 134460480 134460978 0,0,0 origin_of_replication amplicons 6 and 7; peak of endogenous synthesis determined by quantitative PCR of size-fractionated nascent strands 107032760|GeneID:107032760,3251|GeneID:3251 11948690|PMID:11948690 EXISTENCE:fractionation evidence [ECO:0000100][PMID:11948690] amplicons 6 and 7; peak of endogenous synthesis determined by quantitative PCR of size-fractionated nascent strands -chrX 134463270 134465691 matrix_attachment_region 0 + 134463270 134465691 0,128,128 region HindIII/BglII fragment; binds nuclear matrix 107032760|GeneID:107032760,3251|GeneID:3251 2841570|PMID:2841570 EXISTENCE:fractionation evidence [ECO:0000100][PMID:2841570] HindIII/BglII fragment; binds nuclear matrix -chrX 134463270 134465691 rep_origin: HindIII/BglII fragment 0 + 134463270 134465691 0,0,0 origin_of_replication HindIII/BglII fragment; supports extrachromosomal replication of a plasmid in yeast cells 107032760|GeneID:107032760,3251|GeneID:3251 2841570|PMID:2841570 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:2841570] HindIII/BglII fragment; supports extrachromosomal replication of a plasmid in yeast cells -chrX 134464168 134464741 rep_origin: HPT385 fragment 0 + 134464168 134464741 0,0,0 origin_of_replication HPT385 fragment; supports extrachromosomal replication of a plasmid in yeast cells 107032760|GeneID:107032760,3251|GeneID:3251 2841570|PMID:2841570 EXISTENCE:genetic transformation evidence [ECO:0005027][PMID:2841570] HPT385 fragment; supports extrachromosomal replication of a plasmid in yeast cells -chrX 137234646 137235712 enhancer 0 + 137234646 137235712 0,128,128 enhancer VISTA enhancer hs755 110120761|GeneID:110120761 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] VISTA enhancer hs755 | enhancer in: hindbrain (rhombencephalon)[8/9] | midbrain (mesencephalon)[8/9] -chrX 140087219 140089386 enhancer 0 + 140087219 140089386 0,128,128 enhancer VISTA enhancer hs427 110120680|GeneID:110120680 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: hindbrain (rhombencephalon)[4/5] | forebrain[5/5] VISTA enhancer hs427 | enhancer in: hindbrain (rhombencephalon)[4/5] | forebrain[5/5] -chrX 140249967 140251211 enhancer 0 + 140249967 140251211 0,128,128 enhancer VISTA enhancer hs667 110120737|GeneID:110120737 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[9/11] | cranial nerve[8/11] VISTA enhancer hs667 | enhancer in: neural tube[9/11] | hindbrain (rhombencephalon)[9/11] | midbrain (mesencephalon)[9/11] | cranial nerve[8/11] -chrX 140504801 140505510 promoter 0 + 140504801 140505510 0,128,128 promoter F19R30 amplicon spanning -427 to +286 108281134|GeneID:108281134 15656994|PMID:15656994 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15656994] F19R30 amplicon spanning -427 to +286 -chrX 140505020 140505307 promoter 0 + 140505020 140505307 0,128,128 promoter F17R24 amplicon spanning -219 to +67 108281134|GeneID:108281134 15656994|PMID:15656994 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:15656994] core promoter F17R24 amplicon spanning -219 to +67 | core promoter -chrX 140505123 140505150 protein_bind: Sp1 transcription factor 0 + 140505123 140505150 192,0,0 protein_binding_site -63 SP1 site 108281134|GeneID:108281134 15656994|PMID:15656994 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15656994] positive regulation of transcription -63 SP1 site | positive regulation of transcription | Sp1 transcription factor -chrX 140505139 140505158 protein_bind: retinoid X receptor alpha 0 + 140505139 140505158 192,0,0 protein_binding_site F35R35 108281134|GeneID:108281134 18786169|PMID:18786169 EXISTENCE:protein binding evidence [ECO:0000024][PMID:18786169] F35R35 | retinoid X receptor alpha -chrX 140505139 140505170 protein_bind: Meis homeobox 1 and 2 0 + 140505139 140505170 192,0,0 protein_binding_site F31R31 108281134|GeneID:108281134 19799567|PMID:19799567 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19799567] positive regulation of transcription F31R31 | positive regulation of transcription | Meis homeobox 1 and 2 -chrX 140505139 140505170 protein_bind: PBX homeobox 1 0 + 140505139 140505170 192,0,0 protein_binding_site F31R31 108281134|GeneID:108281134 19799567|PMID:19799567 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19799567] positive regulation of transcription F31R31 | positive regulation of transcription | PBX homeobox 1 -chrX 140505139 140505170 protein_bind: upstream transcription factor 1 0 + 140505139 140505170 192,0,0 protein_binding_site -83 USF1 site 108281134|GeneID:108281134 15656994|PMID:15656994 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15656994] positive regulation of transcription -83 USF1 site | positive regulation of transcription | upstream transcription factor 1 -chrX 140505139 140505170 response_element 0 + 140505139 140505170 0,128,128 regulatory_region F31R31 108281134|GeneID:108281134 18786169|PMID:18786169 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:18786169] mediates induction by retinoid X receptor F31R31 | mediates induction by retinoid X receptor -chrX 140505178 140505380 response_element 0 + 140505178 140505380 0,128,128 regulatory_region F18R14 amplicon spanning -293 to -92 108281134|GeneID:108281134 17005281|PMID:17005281 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17005281] mediates induction by retinoid X receptor F18R14 amplicon spanning -293 to -92 | mediates induction by retinoid X receptor -chrX 140505179 140505200 protein_bind: nuclear transcription factor Y subunit alpha 0 + 140505179 140505200 192,0,0 protein_binding_site -113 NF-Y site; also known as NF-YA site N3 108281134|GeneID:108281134 15656994|PMID:15656994,17910945|PMID:17910945 EXISTENCE:protein binding evidence [ECO:0000024][PMID:15656994, PMID:17910945] positive regulation of transcription -113 NF-Y site; also known as NF-YA site N3 | positive regulation of transcription | nuclear transcription factor Y subunit alpha -chrX 140505241 140505269 protein_bind: retinoid X receptor alpha 0 + 140505241 140505269 192,0,0 protein_binding_site RXRalpha footprint B 108281134|GeneID:108281134 17005281|PMID:17005281 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17005281] RXRalpha footprint B | retinoid X receptor alpha -chrX 140505263 140505295 protein_bind: cAMP responsive element binding protein 1 0 + 140505263 140505295 192,0,0 protein_binding_site F3R3 CRE 108281134|GeneID:108281134 24257117|PMID:24257117 EXISTENCE:protein binding evidence [ECO:0000024][PMID:24257117] positive regulation of transcription F3R3 CRE | positive regulation of transcription | cAMP responsive element binding protein 1 -chrX 140505305 140505340 protein_bind: retinoid X receptor alpha 0 + 140505305 140505340 192,0,0 protein_binding_site RXRalpha footprint A 108281134|GeneID:108281134 17005281|PMID:17005281 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17005281] RXRalpha footprint A | retinoid X receptor alpha -chrX 140505313 140505341 protein_bind: nuclear transcription factor Y subunit alpha 0 + 140505313 140505341 192,0,0 protein_binding_site NF-YA site N2 108281134|GeneID:108281134 17910945|PMID:17910945 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17910945] NF-YA site N2 | nuclear transcription factor Y subunit alpha -chrX 140505394 140505424 protein_bind: nuclear transcription factor Y subunit alpha 0 + 140505394 140505424 192,0,0 protein_binding_site NF-YA site N1 108281134|GeneID:108281134 17910945|PMID:17910945 EXISTENCE:protein binding evidence [ECO:0000024][PMID:17910945] positive regulation of transcription NF-YA site N1 | positive regulation of transcription | nuclear transcription factor Y subunit alpha -chrX 140505455 140505487 protein_bind: TGFB induced factor homeobox 1 0 + 140505455 140505487 192,0,0 protein_binding_site TGIF site 108281134|GeneID:108281134 22293114|PMID:22293114 EXISTENCE:protein binding evidence [ECO:0000024][PMID:22293114] negative regulation of transcription TGIF site | negative regulation of transcription | TGFB induced factor homeobox 1 -chrX 147857584 147858536 rep_origin: SNP1F/SNP1R amplicon 0 + 147857584 147858536 0,0,0 origin_of_replication SNP1F/SNP1R amplicon; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107048982|GeneID:107048982 25179629|PMID:25179629 EXISTENCE:fractionation evidence [ECO:0000100][PMID:25179629] SNP1F/SNP1R amplicon; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chrX 147910964 147911154 rep_origin: Frax2 amplicon corresponding to ORI I 0 + 147910964 147911154 0,0,0 origin_of_replication Frax2 amplicon corresponding to ORI I; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107032825|GeneID:107032825 24419320|PMID:24419320 EXISTENCE:fractionation evidence [ECO:0000100][PMID:24419320] Frax2 amplicon corresponding to ORI I; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chrX 147911464 147911653 rep_origin: amplicon 1.4 0 + 147911464 147911653 0,0,0 origin_of_replication amplicon 1.4; detected by quantitative PCR of size-fractionated nascent strands 107032825|GeneID:107032825 17101793|PMID:17101793 EXISTENCE:fractionation evidence [ECO:0000100][PMID:17101793] amplicon 1.4; detected by quantitative PCR of size-fractionated nascent strands -chrX 147911744 147911956 rep_origin: Frax1c amplicon corresponding to ORI II 0 + 147911744 147911956 0,0,0 origin_of_replication Frax1c amplicon corresponding to ORI II; includes amplicon E from PMID:17196195; major peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107032825|GeneID:107032825 17196195|PMID:17196195,24419320|PMID:24419320 EXISTENCE:fractionation evidence [ECO:0000100][PMID:17196195, PMID:24419320] Frax1c amplicon corresponding to ORI II; includes amplicon E from PMID:17196195; major peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chrX 147911977 147912110 tandem 0 + 147911977 147912110 0,0,192 repeat_region trinucleotide repeat; subject to instability and expansion 107032825|GeneID:107032825,2332|GeneID:2332 trinucleotide repeat; subject to instability and expansion -chrX 147911978 147912111 tandem 0 + 147911978 147912111 0,0,192 repeat_region 108684022|GeneID:108684022,2332|GeneID:2332 repeat_region -chrX 147912050 147912110 repeat_instability_region 0 + 147912050 147912110 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with a number of disorders, including and fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X syndrome 108684022|GeneID:108684022,2332|GeneID:2332 23064752|PMID:23064752 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:23064752] repeat instability region; expansion of the (CGG)n trinucleotide repeat is associated with a number of disorders, including and fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X syndrome -chrX 147912695 147913000 rep_origin: amplicon 3 0 + 147912695 147913000 0,0,0 origin_of_replication amplicon 3; peak of nascent strand synthesis detected by quantitative PCR of labelled nascent strands 107032825|GeneID:107032825,2332|GeneID:2332 17668008|PMID:17668008 EXISTENCE:nucleotide analog incorporation evidence [ECO:0001107][PMID:17668008] amplicon 3; peak of nascent strand synthesis detected by quantitative PCR of labelled nascent strands -chrX 147912874 147913868 rep_origin: region spanning amplicons Frax12, Frax13, and Frax13a corresponding to ORI III 0 + 147912874 147913868 0,0,0 origin_of_replication region spanning amplicons Frax12, Frax13, and Frax13a corresponding to ORI III; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107032825|GeneID:107032825,2332|GeneID:2332 24419320|PMID:24419320 EXISTENCE:fractionation evidence [ECO:0000100][PMID:24419320] region spanning amplicons Frax12, Frax13, and Frax13a corresponding to ORI III; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chrX 148500442 148500606 rep_origin: C amplicon 0 + 148500442 148500606 0,0,0 origin_of_replication C amplicon; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA 107048984|GeneID:107048984 16582587|PMID:16582587 EXISTENCE:fractionation evidence [ECO:0000100][PMID:16582587] C amplicon; peak of nascent strand synthesis detected by quantitative PCR of size-fractionated DNA -chrX 148500601 148500743 tandem 0 + 148500601 148500743 0,0,192 repeat_region 109461475|GeneID:109461475 repeat_region -chrX 148500637 148500682 repeat_instability_region 0 + 148500637 148500682 192,0,192 sequence_feature repeat instability region; expansion of the (CCG)n trinucleotide repeat is associated with fragility at this site 109461475|GeneID:109461475,2334|GeneID:2334 8334699|PMID:8334699,9032643|PMID:9032643 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:8334699, PMID:9032643] repeat instability region; expansion of the (CCG)n trinucleotide repeat is associated with fragility at this site -chrX 149486745 149489071 meiotic 0 + 149486745 149489071 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106050102|GeneID:106050102 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 149487693 149503070 non_allelic_homologous 0 + 149487693 149503070 160,82,45 recombination_feature sub-region b, recombines with sub-region b' within the IDSP1 recombination region 106050102|GeneID:106050102 9801874|PMID:9801874 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9801874] sub-region b, recombines with sub-region b' within the IDSP1 recombination region -chrX 149487707 149488187 non_allelic_homologous 0 + 149487707 149488187 160,82,45 recombination_feature sub-region a1, recombines with sub-region a' within the IDSP1 recombination region 106050102|GeneID:106050102 9097969|PMID:9097969 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9097969] sub-region a1, recombines with sub-region a' within the IDSP1 recombination region -chrX 149488187 149488413 non_allelic_homologous 0 + 149488187 149488413 160,82,45 recombination_feature sub-region a2, recombines with sub-region a' within the IDSP1 recombination region 106050102|GeneID:106050102 9097969|PMID:9097969 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9097969] sub-region a2, recombines with sub-region a' within the IDSP1 recombination region -chrX 149526164 149527759 non_allelic_homologous 0 + 149526164 149527759 160,82,45 recombination_feature sub-region b', recombines with sub-region b within the IDSP1 recombination region 106050103|GeneID:106050103 9801874|PMID:9801874 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9801874] sub-region b', recombines with sub-region b within the IDSP1 recombination region -chrX 149526473 149528854 meiotic 0 + 149526473 149528854 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106050103|GeneID:106050103 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 149526680 149527745 non_allelic_homologous 0 + 149526680 149527745 160,82,45 recombination_feature sub-region a', recombines with either sub-region a1 or a2 within the IDSP1 recombination region 106050103|GeneID:106050103 9097969|PMID:9097969 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:9097969] sub-region a', recombines with either sub-region a1 or a2 within the IDSP1 recombination region -chrX 149631713 149631781 tandem 0 + 149631713 149631781 0,0,192 repeat_region 109396974|GeneID:109396974 repeat_region -chrX 149631718 149631781 nucleotide_motif 0 + 149631718 149631781 192,0,192 sequence_feature nucleotide motif; (GCCGTC)n(GCC)n motif found on the plus strand relative to the reference genome 109396974|GeneID:109396974 7881407|PMID:7881407 COORDINATES:manual assertion [ECO:0000218][PMID:7881407] nucleotide motif; (GCCGTC)n(GCC)n motif found on the plus strand relative to the reference genome -chrX 149631736 149631781 repeat_instability_region 0 + 149631736 149631781 192,0,192 sequence_feature repeat instability region; expansion of the (CGG)n trinucleotide repeat (CCG relative to the plus strand of the reference genome) is associated with fragility at this site 109396974|GeneID:109396974 7881407|PMID:7881407 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:7881407] repeat instability region; expansion of the (CGG)n trinucleotide repeat (CCG relative to the plus strand of the reference genome) is associated with fragility at this site -chrX 151239219 151240580 enhancer 0 + 151239219 151240580 0,128,128 enhancer VISTA enhancer hs1746 110121199|GeneID:110121199 17130149|PMID:17130149 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:17130149] enhancer in: forebrain[4/5] VISTA enhancer hs1746 | enhancer in: forebrain[4/5] -chrX 154137726 154144286 locus_control_region 0 + 154137726 154144286 0,128,128 locus_control_region 6.5 kb full-length fragment from pR6.5lacZ construct 107604627|GeneID:107604627 1524826|PMID:1524826 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1524826] cone cell-specific and mutually exclusive expression of the red and green cone pigment genes 6.5 kb full-length fragment from pR6.5lacZ construct | cone cell-specific and mutually exclusive expression of the red and green cone pigment genes -chrX 154138703 154141156 transcriptional_cis_regulatory_region 0 + 154138703 154141156 0,128,128 region HS106 blue cone monochromat deletion 107604627|GeneID:107604627 2788922|PMID:2788922 EXISTENCE:mutant phenotype evidence [ECO:0000015][PMID:2788922] necessary for expression of the red and green cone pigment genes HS106 blue cone monochromat deletion | necessary for expression of the red and green cone pigment genes -chrX 154139710 154141275 locus_control_region 0 + 154139710 154141275 0,128,128 locus_control_region 1.6 kb fragment from pR2.1lacZ construct 107604627|GeneID:107604627 1524826|PMID:1524826,10220452|PMID:10220452,11773636|PMID:11773636 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:1524826, PMID:11773636, PMID:10220452] cone cell-specific and mutually exclusive expression of the red and green cone pigment genes 1.6 kb fragment from pR2.1lacZ construct | cone cell-specific and mutually exclusive expression of the red and green cone pigment genes -chrX 154140561 154141152 transcriptional_cis_regulatory_region 0 + 154140561 154141152 0,128,128 region 0.6 kb core LCR region deleted in the pR5.9lacZ construct; identical to the HS102 blue cone monochromat deletion 107604627|GeneID:107604627 2788922|PMID:2788922 EXISTENCE:mutant phenotype evidence [ECO:0000015][PMID:2788922] necessary for expression of the red and green cone pigment genes 0.6 kb core LCR region deleted in the pR5.9lacZ construct; identical to the HS102 blue cone monochromat deletion | necessary for expression of the red and green cone pigment genes -chrX 154140683 154140758 conserved_region 0 + 154140683 154140758 192,0,192 sequence_feature conserved region; LCR region that is highly conserved among mammalian species; includes putative binding sites for CRX and GTF2IRD1 107604627|GeneID:107604627 25392503|PMID:25392503 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:25392503] conserved region; LCR region that is highly conserved among mammalian species; includes putative binding sites for CRX and GTF2IRD1 -chrX 154140723 154140759 protein_bind: paired box 6 0 + 154140723 154140759 192,0,0 protein_binding_site PAX6 binding to 37 bp LCR core fragment 107604627|GeneID:107604627 10903837|PMID:10903837 EXISTENCE:yeast one-hybrid evidence [ECO:0000066][PMID:10903837] PAX6 binding to 37 bp LCR core fragment | paired box 6 -chrX 154140723 154140759 protein_bind: retina and anterior neural fold homeobox 0 + 154140723 154140759 192,0,0 protein_binding_site RX/RAX binding to 37 bp LCR core fragment 107604627|GeneID:107604627 10903837|PMID:10903837 EXISTENCE:yeast one-hybrid evidence [ECO:0000066][PMID:10903837] RX/RAX binding to 37 bp LCR core fragment | retina and anterior neural fold homeobox -chrX 154140723 154140759 protein_bind: visual system homeobox 1 0 + 154140723 154140759 192,0,0 protein_binding_site RINX binding to 37 bp LCR core fragment 107604627|GeneID:107604627 10903837|PMID:10903837 EXISTENCE:yeast one-hybrid evidence [ECO:0000066][PMID:10903837] RINX binding to 37 bp LCR core fragment | visual system homeobox 1 -chrX 154140723 154140759 protein_bind: visual system homeobox 2 0 + 154140723 154140759 192,0,0 protein_binding_site CHX10 binding to 37 bp LCR core fragment 107604627|GeneID:107604627 10903837|PMID:10903837 EXISTENCE:yeast one-hybrid evidence [ECO:0000066][PMID:10903837] CHX10 binding to 37 bp LCR core fragment | visual system homeobox 2 -chrX 154144052 154144113 transcriptional_cis_regulatory_region 0 + 154144052 154144113 0,128,128 region -190 to -130 negative regulatory region 107604627|GeneID:107604627 9579468|PMID:9579468 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9579468] negative regulatory element in OPN1LW proximal promoter -190 to -130 negative regulatory region | negative regulatory element in OPN1LW proximal promoter -chrX 154144052 154144286 promoter 0 + 154144052 154144286 0,128,128 promoter -190 to +41 proximal promoter fragment 107604627|GeneID:107604627 9579468|PMID:9579468 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9579468] promoter for OPN1LW cone pigment gene -190 to +41 proximal promoter fragment | promoter for OPN1LW cone pigment gene -chrX 154144112 154144130 transcriptional_cis_regulatory_region 0 + 154144112 154144130 0,128,128 region -130 to -113 positive regulatory region 107604627|GeneID:107604627 9579468|PMID:9579468 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9579468] positive regulatory element in OPN1LW proximal promoter -130 to -113 positive regulatory region | positive regulatory element in OPN1LW proximal promoter -chrX 154144129 154144147 transcriptional_cis_regulatory_region 0 + 154144129 154144147 0,128,128 region -113 to -96 negative regulatory region 107604627|GeneID:107604627 9579468|PMID:9579468 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9579468] negative regulatory element in OPN1LW proximal promoter -113 to -96 negative regulatory region | negative regulatory element in OPN1LW proximal promoter -chrX 154144146 154144220 transcriptional_cis_regulatory_region 0 + 154144146 154144220 0,128,128 region -96 to -23 positive regulatory region 107604627|GeneID:107604627 9579468|PMID:9579468 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:9579468] positive regulatory element in OPN1LW proximal promoter -96 to -23 positive regulatory region | positive regulatory element in OPN1LW proximal promoter -chrX 154144213 154144219 TATA_box 0 + 154144213 154144219 0,128,128 TATA_box OPN1LW promoter putative TATA box 107604627|GeneID:107604627 9579468|PMID:9579468 EXISTENCE:motif similarity evidence [ECO:0000028][PMID:9579468] OPN1LW promoter putative TATA box -chrX 154335911 154347246 non_allelic_homologous 0 + 154335911 154347246 160,82,45 recombination_feature proximal repeat sub-region recombines with the distal repeat sub-region within the Xq28 distal FLNA-EMD recombination region, resulting in an inversion 107988032|GeneID:107988032 9140403|PMID:9140403,9384614|PMID:9384614 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:9140403, PMID:9384614] proximal repeat sub-region recombines with the distal repeat sub-region within the Xq28 distal FLNA-EMD recombination region, resulting in an inversion -chrX 154345350 154349572 meiotic 0 + 154345350 154349572 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107988032|GeneID:107988032 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 154346397 154346410 nucleotide_motif 0 + 154346397 154346410 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107988032|GeneID:107988032 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 154347310 154347323 nucleotide_motif 0 + 154347310 154347323 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107988032|GeneID:107988032 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 154347832 154347845 nucleotide_motif 0 + 154347832 154347845 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107988032|GeneID:107988032 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 154348749 154348762 nucleotide_motif 0 + 154348749 154348762 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107988032|GeneID:107988032 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 154383317 154386761 meiotic 0 + 154383317 154386761 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 107988033|GeneID:107988033 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chrX 154383659 154383675 nucleotide_motif 0 + 154383659 154383675 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 C binding motif, CCNCNNTNNNCNTNNC 107988033|GeneID:107988033 nucleotide motif; similarity to the predicted 13-mer PRDM9 C binding motif, CCNCNNTNNNCNTNNC -chrX 154384565 154384581 nucleotide_motif 0 + 154384565 154384581 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 C binding motif, CCNCNNTNNNCNTNNC 107988033|GeneID:107988033 nucleotide motif; similarity to the predicted 13-mer PRDM9 C binding motif, CCNCNNTNNNCNTNNC -chrX 154384867 154396246 non_allelic_homologous 0 + 154384867 154396246 160,82,45 recombination_feature distal repeat sub-region recombines with the proximal repeat sub-region within the Xq28 proximal FLNA-EMD recombination region, resulting in an inversion 107988033|GeneID:107988033 9140403|PMID:9140403,9384614|PMID:9384614 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:9140403, PMID:9384614] distal repeat sub-region recombines with the proximal repeat sub-region within the Xq28 proximal FLNA-EMD recombination region, resulting in an inversion -chrX 154385703 154385716 nucleotide_motif 0 + 154385703 154385716 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 107988033|GeneID:107988033 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 154542735 154543269 enhancer 0 + 154542735 154543269 0,128,128 enhancer amplified fragment containing the chrX:153771070-153771275 (GRCh37) CAGE region 108281126|GeneID:108281126,8517|GeneID:8517 24670763|PMID:24670763 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:24670763] low expression transcribed enhancer in HeLa cells amplified fragment containing the chrX:153771070-153771275 (GRCh37) CAGE region | low expression transcribed enhancer in HeLa cells -chrX 154542854 154543060 CAGE_cluster 0 + 154542854 154543060 192,0,192 sequence_feature CAGE cluster; bidirectional CAGE region 108281126|GeneID:108281126,8517|GeneID:8517 24670763|PMID:24670763 EXISTENCE:cap analysis of gene expression evidence [ECO:0000309][PMID:24670763] CAGE cluster; bidirectional CAGE region -chrX 154546510 154547759 rep_origin: region encompassed by amplicons 4 and 5 0 + 154546510 154547759 0,0,0 origin_of_replication region encompassed by amplicons 4 and 5; peak of nascent strand synthesis detected in quantitative PCR of size-fractionated nascent DNA 107181288|GeneID:107181288,8517|GeneID:8517 12616531|PMID:12616531 EXISTENCE:fractionation evidence [ECO:0000100][PMID:12616531] region encompassed by amplicons 4 and 5; peak of nascent strand synthesis detected in quantitative PCR of size-fractionated nascent DNA -chrX 154556497 154558301 meiotic 0 + 154556497 154558301 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107988021|GeneID:107988021,8517|GeneID:8517 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 154557118 154557308 retrotransposon:MLT1C 0 + 154557118 154557308 0,0,192 mobile_genetic_element direction; reverse 107988021|GeneID:107988021,8517|GeneID:8517 direction; reverse -chrX 154557135 154558014 non_allelic_homologous 0 + 154557135 154558014 160,82,45 recombination_feature IKBKG NAHR recombination sub-region, recombines with the IKBKG downstream recombination region 107988021|GeneID:107988021,8517|GeneID:8517 10839543|PMID:10839543,11590134|PMID:11590134 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:11590134, PMID:10839543] IKBKG NAHR recombination sub-region, recombines with the IKBKG downstream recombination region -chrX 154557404 154558016 retrotransposon:MER67B 0 + 154557404 154558016 0,0,192 mobile_genetic_element direction; reverse 107988021|GeneID:107988021,8517|GeneID:8517 direction; reverse -chrX 154568819 154569698 non_allelic_homologous 0 + 154568819 154569698 160,82,45 recombination_feature IKBKG downstream recombination region IKBKG NAHR recombination sub-region, recombines with the IKBKG NAHR recombination sub-region within the IKBKG recombination region 107988022|GeneID:107988022 10839543|PMID:10839543,11590134|PMID:11590134 EXISTENCE:Southern hybridization evidence [ECO:0000078][PMID:11590134, PMID:10839543] IKBKG downstream recombination region IKBKG NAHR recombination sub-region, recombines with the IKBKG NAHR recombination sub-region within the IKBKG recombination region -chrX 154569088 154569697 retrotransposon:MER67B 0 + 154569088 154569697 0,0,192 mobile_genetic_element direction; reverse 107988022|GeneID:107988022 direction; reverse -chrX 154634731 154635610 non_allelic_homologous 0 + 154634731 154635610 160,82,45 recombination_feature IKBKGP1 upstream recombination region recombines with the IKBKGP1 NAHR recombination sub-region within the IKBKGP1 recombination region 107988025|GeneID:107988025 19603533|PMID:19603533 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19603533] IKBKGP1 upstream recombination region recombines with the IKBKGP1 NAHR recombination sub-region within the IKBKGP1 recombination region -chrX 154634732 154635341 retrotransposon:MER67B 0 + 154634732 154635341 0,0,192 mobile_genetic_element direction; forward 107988025|GeneID:107988025 direction; forward -chrX 154646127 154647897 meiotic 0 + 154646127 154647897 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 107988024|GeneID:107988024 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chrX 154646421 154647033 retrotransposon:MER67B 0 + 154646421 154647033 0,0,192 mobile_genetic_element direction; forward 107988024|GeneID:107988024 direction; forward -chrX 154646423 154647302 non_allelic_homologous 0 + 154646423 154647302 160,82,45 recombination_feature IKBKGP1 NAHR recombination sub-region recombines with either the IKBKGP1 upstream recombination region or the IKBKG NAHR recombination sub-region within the IKBKG recombination region 107988024|GeneID:107988024 19603533|PMID:19603533 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:19603533] IKBKGP1 NAHR recombination sub-region recombines with either the IKBKGP1 upstream recombination region or the IKBKG NAHR recombination sub-region within the IKBKG recombination region -chrX 154647150 154647319 retrotransposon:MLT1C 0 + 154647150 154647319 0,0,192 mobile_genetic_element direction; forward 107988024|GeneID:107988024 direction; forward -chrX 154880818 154890330 non_allelic_homologous 0 + 154880818 154890330 160,82,45 recombination_feature int22h-1 recombination region, recombines with either the int22h-2 or int22h-3 recombination regions 106146150|GeneID:106146150 9694739|PMID:9694739 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9694739] int22h-1 recombination region, recombines with either the int22h-2 or int22h-3 recombination regions -chrX 154883917 154888329 meiotic 0 + 154883917 154888329 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106146150|GeneID:106146150 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 154886269 154886282 nucleotide_motif 0 + 154886269 154886282 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106146150|GeneID:106146150 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 154887435 154887448 nucleotide_motif 0 + 154887435 154887448 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106146150|GeneID:106146150,8263|GeneID:8263 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 155006106 155007147 non_allelic_homologous 0 + 155006106 155007147 160,82,45 recombination_feature int1h-1 recombination region, recombines with the int1h-2 recombination region 106146143|GeneID:106146143 11756167|PMID:11756167 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11756167] int1h-1 recombination region, recombines with the int1h-2 recombination region -chrX 155006259 155007182 meiotic 0 + 155006259 155007182 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/B and PRDM9 A/C genotypes 106146143|GeneID:106146143 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/B and PRDM9 A/C genotypes -chrX 155147687 155149673 meiotic 0 + 155147687 155149673 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106146144|GeneID:106146144 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 155147780 155148821 non_allelic_homologous 0 + 155147780 155148821 160,82,45 recombination_feature int1h-2 recombination region, recombines with the int1h-1 recombination region 106146144|GeneID:106146144 11756167|PMID:11756167 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:11756167] int1h-2 recombination region, recombines with the int1h-1 recombination region -chrX 155376509 155386062 non_allelic_homologous 0 + 155376509 155386062 160,82,45 recombination_feature int22h-2 recombination region, recombines with the int22h-1 and int22h-3 recombination regions 106146151|GeneID:106146151 9694739|PMID:9694739 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9694739] int22h-2 recombination region, recombines with the int22h-1 and int22h-3 recombination regions -chrX 155379691 155384071 meiotic 0 + 155379691 155384071 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106146151|GeneID:106146151 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 155382009 155382022 nucleotide_motif 0 + 155382009 155382022 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106146151|GeneID:106146151 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 155383175 155383188 nucleotide_motif 0 + 155383175 155383188 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106146151|GeneID:106146151,474383|GeneID:474383 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 155454647 155464204 non_allelic_homologous 0 + 155454647 155464204 160,82,45 recombination_feature int22h-3 recombination region, recombines with the int22h-1 and int22h-2 recombination regions 106146152|GeneID:106146152 9694739|PMID:9694739 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:9694739] int22h-3 recombination region, recombines with the int22h-1 and int22h-2 recombination regions -chrX 155456824 155460888 meiotic 0 + 155456824 155460888 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106146152|GeneID:106146152 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 155457526 155457539 nucleotide_motif 0 + 155457526 155457539 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106146152|GeneID:106146152,100422977|GeneID:100422977 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 155458692 155458705 nucleotide_motif 0 + 155458692 155458705 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 106146152|GeneID:106146152 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrX 155747396 155751379 meiotic 0 + 155747396 155751379 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype 107838685|GeneID:107838685,10251|GeneID:10251 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype -chrX 155748847 155749947 meiotic 0 + 155748847 155749947 160,82,45 recombination_feature crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to PRDM9 C-type alleles 107838685|GeneID:107838685,10251|GeneID:10251 21750151|PMID:21750151 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:21750151] crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to PRDM9 C-type alleles -chrX 155749631 155749647 nucleotide_motif 0 + 155749631 155749647 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot 107838685|GeneID:107838685,10251|GeneID:10251 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot -chrX 155750500 155750516 nucleotide_motif 0 + 155750500 155750516 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107838685|GeneID:107838685,10251|GeneID:10251 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrX 155764857 155769660 meiotic 0 + 155764857 155769660 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107522039|GeneID:107522039,10251|GeneID:10251 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrX 155766507 155768307 meiotic 0 + 155766507 155768307 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with the PRDM9 A allele, and little recombination in some individuals with other PRDM9 alleles 107522039|GeneID:107522039,10251|GeneID:10251 20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with the PRDM9 A allele, and little recombination in some individuals with other PRDM9 alleles -chrX 155767223 155767236 nucleotide_motif 0 + 155767223 155767236 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107522039|GeneID:107522039,10251|GeneID:10251 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot -chrX 155767566 155767579 nucleotide_motif 0 + 155767566 155767579 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107522039|GeneID:107522039,10251|GeneID:10251 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot -chrX 155767661 155767674 nucleotide_motif 0 + 155767661 155767674 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107522039|GeneID:107522039,10251|GeneID:10251 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot -chrX_KI270880v1_alt 120974 121525 enhancer 0 + 120974 121525 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102723840|GeneID:102723840 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-5 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrX_KI270880v1_alt 120974 121568 enhancer 0 + 120974 121568 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102723840|GeneID:102723840 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-5 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX_KI270880v1_alt 121101 121223 conserved_region 0 + 121101 121223 192,0,192 sequence_feature conserved region; CRCNE00011074 more deeply conserved sub-region 108353830|GeneID:108353830,102723840|GeneID:102723840 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011074 more deeply conserved sub-region -chrX_KI270880v1_alt 121263 121426 conserved_region 0 + 121263 121426 192,0,192 sequence_feature conserved region; CRCNE00011082 more deeply conserved sub-region 108353830|GeneID:108353830,102723840|GeneID:102723840 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011082 more deeply conserved sub-region -chrX_KI270880v1_alt 182896 183282 enhancer 0 + 182896 183282 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-3 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX_KI270880v1_alt 182897 183282 enhancer 0 + 182897 183282 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-3 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrX_KI270880v1_alt 239227 239847 enhancer 0 + 239227 239847 0,128,128 enhancer CNE-2 PCR-amplified reporter construct fragment 108353832|GeneID:108353832 19997128|PMID:19997128,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128, PMID:26631348] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE-2 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrX_KI270880v1_alt 239284 239584 conserved_region 0 + 239284 239584 192,0,192 sequence_feature conserved region; CRCNE00011089 more deeply conserved sub-region 108353832|GeneID:108353832 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011089 more deeply conserved sub-region -chrX_KI270881v1_alt 82239 82495 promoter 0 - 82239 82495 0,128,128 promoter -167 promoter in TBX22-4 construct 109286564|GeneID:109286564 25373698|PMID:25373698 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:25373698] -167 promoter in TBX22-4 construct -chrX_KI270881v1_alt 82381 82411 protein_bind: ETS proto-oncogene 1, transcription factor 0 - 82381 82411 192,0,0 protein_binding_site oligo 1 109286564|GeneID:109286564 25373698|PMID:25373698 EXISTENCE:protein binding evidence [ECO:0000024][PMID:25373698] positive regulation of transcription oligo 1 | positive regulation of transcription | ETS proto-oncogene 1, transcription factor -chrX_KI270913v1_alt 110114 110665 enhancer 0 + 110114 110665 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102723840|GeneID:102723840 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-5 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrX_KI270913v1_alt 110114 110708 enhancer 0 + 110114 110708 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102723840|GeneID:102723840 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-5 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX_KI270913v1_alt 110241 110363 conserved_region 0 + 110241 110363 192,0,192 sequence_feature conserved region; CRCNE00011074 more deeply conserved sub-region 108353830|GeneID:108353830,102723840|GeneID:102723840 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011074 more deeply conserved sub-region -chrX_KI270913v1_alt 110403 110566 conserved_region 0 + 110403 110566 192,0,192 sequence_feature conserved region; CRCNE00011082 more deeply conserved sub-region 108353830|GeneID:108353830,102723840|GeneID:102723840 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011082 more deeply conserved sub-region -chrX_KI270913v1_alt 172036 172422 enhancer 0 + 172036 172422 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-3 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrX_KI270913v1_alt 172037 172422 enhancer 0 + 172037 172422 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-3 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrX_KI270913v1_alt 228367 228987 enhancer 0 + 228367 228987 0,128,128 enhancer CNE-2 PCR-amplified reporter construct fragment 108353832|GeneID:108353832 19997128|PMID:19997128,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128, PMID:26631348] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE-2 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrX_KI270913v1_alt 228424 228724 conserved_region 0 + 228424 228724 192,0,192 sequence_feature conserved region; CRCNE00011089 more deeply conserved sub-region 108353832|GeneID:108353832 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011089 more deeply conserved sub-region -chrY 437621 438172 enhancer 0 + 437621 438172 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102724521|GeneID:102724521 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-5 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrY 437621 438215 enhancer 0 + 437621 438215 0,128,128 enhancer CNE-5 PCR-amplified reporter construct fragment 108353830|GeneID:108353830,102724521|GeneID:102724521 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-5 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrY 437748 437870 conserved_region 0 + 437748 437870 192,0,192 sequence_feature conserved region; CRCNE00011074 more deeply conserved sub-region 108353830|GeneID:108353830,102724521|GeneID:102724521 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011074 more deeply conserved sub-region -chrY 437910 438073 conserved_region 0 + 437910 438073 192,0,192 sequence_feature conserved region; CRCNE00011082 more deeply conserved sub-region 108353830|GeneID:108353830,102724521|GeneID:102724521 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011082 more deeply conserved sub-region -chrY 499543 499929 enhancer 0 + 499543 499929 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:26631348] enhancer in human U2OS osteosarcoma cells CNE-3 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrY 499544 499929 enhancer 0 + 499544 499929 0,128,128 enhancer CNE-3 PCR-amplified reporter construct fragment 108353831|GeneID:108353831 19997128|PMID:19997128 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128] enhancer in ovo in chicken limb buds CNE-3 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds -chrY 555874 556494 enhancer 0 + 555874 556494 0,128,128 enhancer CNE-2 PCR-amplified reporter construct fragment 108353832|GeneID:108353832 19997128|PMID:19997128,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:19997128, PMID:26631348] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE-2 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrY 555931 556231 conserved_region 0 + 555931 556231 192,0,192 sequence_feature conserved region; CRCNE00011089 more deeply conserved sub-region 108353832|GeneID:108353832 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011089 more deeply conserved sub-region -chrY 633052 636134 meiotic 0 + 633052 636134 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107652445|GeneID:107652445,6473|GeneID:6473 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 633275 636275 meiotic 0 + 633275 636275 160,82,45 recombination_feature crossovers mapped in sperm cells of males of northern European ancestry 107652445|GeneID:107652445,6473|GeneID:6473 12089524|PMID:12089524 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:12089524] crossovers mapped in sperm cells of males of northern European ancestry -chrY 634353 634370 nucleotide_motif 0 + 634353 634370 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107652445|GeneID:107652445,6473|GeneID:6473 nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrY 753348 754018 enhancer 0 + 753348 754018 0,128,128 enhancer CNE4 PCR-amplified transgene fragment 108383234|GeneID:108383234 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo fin, cardiovascular system, brain, skin, muscle, notochord and ear CNE4 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo fin, cardiovascular system, brain, skin, muscle, notochord and ear -chrY 753349 754004 enhancer 0 + 753349 754004 0,128,128 enhancer CNE4 PCR-amplified reporter construct fragment 108383234|GeneID:108383234 17200153|PMID:17200153,22791839|PMID:22791839,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17200153, PMID:26631348, PMID:22791839] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE4 PCR-amplified reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrY 753628 753714 conserved_region 0 + 753628 753714 192,0,192 sequence_feature conserved region; CRCNE00011095 more deeply conserved sub-region 108383234|GeneID:108383234 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011095 more deeply conserved sub-region -chrY 753635 753735 enhancer 0 + 753635 753735 0,128,128 enhancer CRCNE00011095 PCR-amplified transgene fragment 108383234|GeneID:108383234 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo skin, with some activity in fin, muscle and heart CRCNE00011095 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo skin, with some activity in fin, muscle and heart -chrY 790088 791115 enhancer 0 + 790088 791115 0,128,128 enhancer CNE5 PCR-amplified transgene fragment 108383235|GeneID:108383235 23575226|PMID:23575226 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23575226] enhancer in mouse E11.5-E12.5 neural tissue, especially in hindbrain CNE5 PCR-amplified transgene fragment | enhancer in mouse E11.5-E12.5 neural tissue, especially in hindbrain -chrY 790089 791115 enhancer 0 + 790089 791115 0,128,128 enhancer CNE5 reporter construct fragment 108383235|GeneID:108383235 17200153|PMID:17200153,22791839|PMID:22791839,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:17200153, PMID:22791839, PMID:26631348] enhancer in ovo in chicken limb buds, in day 2 and day 3 zebrafish embryo brain, skin, heart, fins, muscle, notochord and eye, and in human U2OS osteosarcoma cells CNE5 reporter construct fragment | enhancer in ovo in chicken limb buds, in day 2 and day 3 zebrafish embryo brain, skin, heart, fins, muscle, notochord and eye, and in human U2OS osteosarcoma cells -chrY 790099 790149 conserved_region 0 + 790099 790149 192,0,192 sequence_feature conserved region; CRCNE00011075 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011075 more deeply conserved sub-region -chrY 790286 790346 conserved_region 0 + 790286 790346 192,0,192 sequence_feature conserved region; CRCNE00011096 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011096 more deeply conserved sub-region -chrY 790449 790736 conserved_region 0 + 790449 790736 192,0,192 sequence_feature conserved region; CRCNE00011097 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011097 more deeply conserved sub-region -chrY 790785 790950 conserved_region 0 + 790785 790950 192,0,192 sequence_feature conserved region; CRCNE00011098 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011098 more deeply conserved sub-region -chrY 790962 791022 conserved_region 0 + 790962 791022 192,0,192 sequence_feature conserved region; CRCNE00011099 more deeply conserved sub-region 108383235|GeneID:108383235 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011099 more deeply conserved sub-region -chrY 805128 805625 enhancer 0 + 805128 805625 0,128,128 enhancer CNE6 PCR-amplified transgene fragment 108383236|GeneID:108383236 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in diverse tissues in zebrafish embryos, especially heart and ear at day 2, and muscle, ear, eye and heart at day 3 CNE6 PCR-amplified transgene fragment | enhancer in diverse tissues in zebrafish embryos, especially heart and ear at day 2, and muscle, ear, eye and heart at day 3 -chrY 805373 805462 conserved_region 0 + 805373 805462 192,0,192 sequence_feature conserved region; CRCNE00011100 more deeply conserved sub-region 108383236|GeneID:108383236 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011100 more deeply conserved sub-region -chrY 819352 820259 meiotic 0 + 819352 820259 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the X chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype 108251802|GeneID:108251802 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the X chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype -chrY 819453 820444 meiotic 0 + 819453 820444 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes 108251802|GeneID:108251802 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A and PRDM9 A/B genotypes -chrY 819813 819815 chromosome_breakpoint 0 + 819813 819815 160,82,45 recombination_feature distal breakpoint sub-region, recombines with the proximal breakpoint sub-region within the SHOX downstream enhancer, proximal recombination region, resulting in a recurrent 47.5 kb deletion 108251802|GeneID:108251802 22791839|PMID:22791839 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22791839] distal breakpoint sub-region, recombines with the proximal breakpoint sub-region within the SHOX downstream enhancer, proximal recombination region, resulting in a recurrent 47.5 kb deletion -chrY 819845 820500 enhancer 0 + 819845 820500 0,128,128 enhancer ECR1 PCR-amplified reporter construct fragment 108383238|GeneID:108383238 22791839|PMID:22791839 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:22791839] enhancer in human U2OS osteosarcoma cells ECR1 PCR-amplified reporter construct fragment | enhancer in human U2OS osteosarcoma cells -chrY 819964 820485 enhancer 0 + 819964 820485 0,128,128 enhancer CNE7 PCR-amplified transgene fragment 108383238|GeneID:108383238 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in zebrafish embryos in day 2 skin, and in day 2 and day 3 brain, fin and cardiovascular system CNE7 PCR-amplified transgene fragment | enhancer in zebrafish embryos in day 2 skin, and in day 2 and day 3 brain, fin and cardiovascular system -chrY 820048 820220 conserved_region 0 + 820048 820220 192,0,192 sequence_feature conserved region; CRCNE00011101 more deeply conserved sub-region 108383238|GeneID:108383238 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011101 more deeply conserved sub-region -chrY 820287 820397 conserved_region 0 + 820287 820397 192,0,192 sequence_feature conserved region; CRCNE00011102 more deeply conserved sub-region 108383238|GeneID:108383238 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011102 more deeply conserved sub-region -chrY 850814 851565 enhancer 0 + 850814 851565 0,128,128 enhancer CNE8 PCR-amplified transgene fragment 108410391|GeneID:108410391 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo skin, fin, central nervous system, muscle and heart CNE8 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo skin, fin, central nervous system, muscle and heart -chrY 851009 851316 conserved_region 0 + 851009 851316 192,0,192 sequence_feature conserved region; CRCNE00011103 more deeply conserved sub-region 108410391|GeneID:108410391 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011103 more deeply conserved sub-region -chrY 856167 874963 enhancer 0 + 856167 874963 0,128,128 enhancer 18796 nt extended CNE9 fragment from 19kbCNE9-betalacZ transgene 108410392|GeneID:108410392 23575226|PMID:23575226 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23575226] enhancer in mouse E13.5 embryo fore and hind limbs, mostly restricted to the zeugopodium, also weakly in hindbrain, and in E13.5-14.5 radius and ulna mesenchyme 18796 nt extended CNE9 fragment from 19kbCNE9-betalacZ transgene | enhancer in mouse E13.5 embryo fore and hind limbs, mostly restricted to the zeugopodium, also weakly in hindbrain, and in E13.5-14.5 radius and ulna mesenchyme -chrY 866904 867930 meiotic 0 + 866904 867930 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype 108251803|GeneID:108251803 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing on the Y chromosome in the germ cells of some male individuals with the PRDM9 A/A genotype -chrY 867246 867422 retrotransposon:L1PA3 0 + 867246 867422 0,0,192 mobile_genetic_element direction; reverse 108251803|GeneID:108251803 direction; reverse -chrY 867356 867358 chromosome_breakpoint 0 + 867356 867358 160,82,45 recombination_feature proximal breakpoint sub-region, recombines with the distal breakpoint sub-region within the SHOX downstream enhancer, distal recombination region, resulting in a recurrent 47.5 kb deletion 108251803|GeneID:108251803 22791839|PMID:22791839 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:22791839] proximal breakpoint sub-region, recombines with the distal breakpoint sub-region within the SHOX downstream enhancer, distal recombination region, resulting in a recurrent 47.5 kb deletion -chrY 867378 867391 nucleotide_motif 0 + 867378 867391 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC 108251803|GeneID:108251803 nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC -chrY 874004 874837 enhancer 0 + 874004 874837 0,128,128 enhancer CNE9 PCR-amplified transgene fragment 108410392|GeneID:108410392 21731768|PMID:21731768 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:21731768] enhancer in day 2 and day 3 zebrafish embryo eye, fin and blood CNE9 PCR-amplified transgene fragment | enhancer in day 2 and day 3 zebrafish embryo eye, fin and blood -chrY 874008 874833 enhancer 0 + 874008 874833 0,128,128 enhancer CNE9 fragment from short CNE9-betalacZ transgene 108410392|GeneID:108410392 23575226|PMID:23575226 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:23575226] enhancer in mouse E12.5 neural tissues, including hindbrain and neural tube CNE9 fragment from short CNE9-betalacZ transgene | enhancer in mouse E12.5 neural tissues, including hindbrain and neural tube -chrY 874010 874832 enhancer 0 + 874010 874832 0,128,128 enhancer CNE9 or ECS4 reporter construct fragment 108410392|GeneID:108410392 16385461|PMID:16385461,17200153|PMID:17200153,22791839|PMID:22791839,26631348|PMID:26631348 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:16385461, PMID:17200153, PMID:22791839, PMID:26631348] enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells CNE9 or ECS4 reporter construct fragment | enhancer in ovo in chicken limb buds, and in human U2OS osteosarcoma cells -chrY 874455 874604 conserved_region 0 + 874455 874604 192,0,192 sequence_feature conserved region; CRCNE00011104 more deeply conserved sub-region 108410392|GeneID:108410392 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011104 more deeply conserved sub-region -chrY 874654 874699 conserved_region 0 + 874654 874699 192,0,192 sequence_feature conserved region; CRCNE00011105 more deeply conserved sub-region 108410392|GeneID:108410392 21731768|PMID:21731768 EXISTENCE:sequence alignment evidence [ECO:0000200][PMID:21731768] conserved region; CRCNE00011105 more deeply conserved sub-region -chrY 2787603 2792604 promoter 0 + 2787603 2792604 0,128,128 promoter -5 kb promoter 108178989|GeneID:108178989 16411204|PMID:16411204,22539273|PMID:22539273 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16411204, PMID:22539273] drives expression in the genital ridge, migrating truncal neural crest cells, and epiblast -5 kb promoter | drives expression in the genital ridge, migrating truncal neural crest cells, and epiblast -chrY 2787667 2787699 protein_bind: transcription factor CP2 0 + 2787667 2787699 192,0,0 protein_binding_site CP2-2 site 108178989|GeneID:108178989 19902333|PMID:19902333 EXISTENCE:protein binding evidence [ECO:0000024][PMID:19902333] positive regulation of transcription CP2-2 site | positive regulation of transcription | transcription factor CP2 -chrY 2787699 2788013 promoter 0 + 2787699 2788013 0,128,128 promoter HindIII/HpaI fragment for -300 promoter 108178989|GeneID:108178989 8434602|PMID:8434602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8434602] HindIII/HpaI fragment for -300 promoter -chrY 2787699 2789674 promoter 0 + 2787699 2789674 0,128,128 promoter PstI/HpaI fragment for -1975 promoter 108178989|GeneID:108178989 8434602|PMID:8434602 EXISTENCE:reporter gene assay evidence [ECO:0000049][PMID:8434602] PstI/HpaI fragment for -1975 promoter -chrY 2787727 2787742 protein_bind: Sp1 transcription factor 0 + 2787727 2787742 192,0,0 protein_binding_site FP1 DNase I footprint; Sp1A site 108178989|GeneID:108178989 9582429|PMID:9582429 EXISTENCE:nuclease protection assay evidence [ECO:0001106][PMID:9582429] FP1 DNase I footprint; Sp1A site | Sp1 transcription factor -chrY 2787727 2787760 protein_bind: Wilms tumor 1 0 + 2787727 2787760 192,0,0 protein_binding_site WT1 site SRY2 108178989|GeneID:108178989 9815658|PMID:9815658 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9815658] required for promoter activity WT1 site SRY2 | required for promoter activity | Wilms tumor 1 -chrY 2787744 2787768 protein_bind: Sp1 transcription factor 0 + 2787744 2787768 192,0,0 protein_binding_site FP2 DNase I footprint; Sp1B site 108178989|GeneID:108178989 9582429|PMID:9582429 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9582429] required for promoter activity FP2 DNase I footprint; Sp1B site | required for promoter activity | Sp1 transcription factor -chrY 2787901 2787930 protein_bind: nuclear receptor subfamily 5 group A member 1 0 + 2787901 2787930 192,0,0 protein_binding_site NHR1 (nuclear hormone receptor site 1); -327 to -298 SF1 site 108178989|GeneID:108178989 11207191|PMID:11207191 EXISTENCE:protein binding evidence [ECO:0000024][PMID:11207191] positive regulation of transcription; antagonized by cyclic AMP NHR1 (nuclear hormone receptor site 1); -327 to -298 SF1 site | positive regulation of transcription; antagonized by cyclic AMP | nuclear receptor subfamily 5 group A member 1 -chrY 2788586 2788619 protein_bind: Wilms tumor 1 0 + 2788586 2788619 192,0,0 protein_binding_site WT1 site SRY1 108178989|GeneID:108178989 9815658|PMID:9815658 EXISTENCE:protein binding evidence [ECO:0000024][PMID:9815658] WT1 site SRY1 | Wilms tumor 1 -chrY 2791229 2792604 transcriptional_cis_regulatory_region 0 + 2791229 2792604 0,128,128 region -3.3 kb to -5 kb region 108178989|GeneID:108178989 16411204|PMID:16411204 EXISTENCE:transgenic organism evidence [ECO:0001131][PMID:16411204] required for expression in the genital ridge -3.3 kb to -5 kb region | required for expression in the genital ridge -chrY 9143543 9145138 meiotic 0 + 9143543 9145138 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AB genotypes 106144609|GeneID:106144609 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AB genotypes -chrY 9143907 9144060 non_allelic_homologous 0 + 9143907 9144060 160,82,45 recombination_feature sub-region WHT5557, recombines with sub-region WHT5557' within the IR4 Yq recombination region 106144609|GeneID:106144609 23643616|PMID:23643616 EXISTENCE:fluorescence in situ hybridization evidence [ECO:0001047][PMID:23643616] sub-region WHT5557, recombines with sub-region WHT5557' within the IR4 Yq recombination region -chrY 12312194 12312622 retrotransposon:HERV15-int 0 + 12312194 12312622 0,0,192 mobile_genetic_element direction; forward 106128902|GeneID:106128902 direction; forward -chrY 12312685 12320968 retrotransposon:HERV15-int 0 + 12312685 12320968 0,0,192 mobile_genetic_element direction; forward 106128902|GeneID:106128902 direction; forward -chrY 12313418 12316381 meiotic 0 + 12313418 12316381 160,82,45 recombination_feature meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106128902|GeneID:106128902 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 12313748 12315027 non_allelic_homologous 0 + 12313748 12315027 160,82,45 recombination_feature sub-region ID1 (identical sequence 1), recombines with sub-region ID1' (identical sequence 1') within the AZFa HERV15yq2 recombination region 106128902|GeneID:106128902 1634226|PMID:1634226 EXISTENCE:DNA dot blot assay evidence [ECO:0005522][PMID:1634226] sub-region ID1 (identical sequence 1), recombines with sub-region ID1' (identical sequence 1') within the AZFa HERV15yq2 recombination region -chrY 12319592 12321282 non_allelic_homologous 0 + 12319592 12321282 160,82,45 recombination_feature sub-region ID2 (identical sequence 2), recombines with sub-region ID2' (identical sequence 2') within the AZFa HERV15yq2 recombination region 106128902|GeneID:106128902 1634226|PMID:1634226 EXISTENCE:DNA dot blot assay evidence [ECO:0005522][PMID:1634226] sub-region ID2 (identical sequence 2), recombines with sub-region ID2' (identical sequence 2') within the AZFa HERV15yq2 recombination region -chrY 12319763 12321471 meiotic 0 + 12319763 12321471 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A and PRDM9 A/B genotypes 106128902|GeneID:106128902 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A and PRDM9 A/B genotypes -chrY 12320968 12321445 retrotransposon:LTR15 0 + 12320968 12321445 0,0,192 mobile_genetic_element direction; forward 106128902|GeneID:106128902 direction; forward -chrY 13111540 13118922 retrotransposon:HERV15-int 0 + 13111540 13118922 0,0,192 mobile_genetic_element direction; forward 108004538|GeneID:108004538 direction; forward -chrY 13113002 13115565 meiotic 0 + 13113002 13115565 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 108004538|GeneID:108004538 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 13113055 13114334 non_allelic_homologous 0 + 13113055 13114334 160,82,45 recombination_feature sub-region ID1' (identical sequence 1'), recombines with sub-region ID1 (identical sequence 1) within the AZFa HERV15yq1 recombination region 108004538|GeneID:108004538 1634226|PMID:1634226 EXISTENCE:DNA dot blot assay evidence [ECO:0005522][PMID:1634226] sub-region ID1' (identical sequence 1'), recombines with sub-region ID1 (identical sequence 1) within the AZFa HERV15yq1 recombination region -chrY 13118931 13120061 LINE:L1PA4 0 + 13118931 13120061 0,0,192 mobile_genetic_element direction; reverse 108004538|GeneID:108004538 direction; reverse -chrY 13120053 13120461 retrotransposon:HERV15-int 0 + 13120053 13120461 0,0,192 mobile_genetic_element direction; forward 108004538|GeneID:108004538 direction; forward -chrY 13120450 13122140 non_allelic_homologous 0 + 13120450 13122140 160,82,45 recombination_feature sub-region ID2' (identical sequence 2'), recombines with sub-region ID2 (identical sequence 2) within the AZFa HERV15yq1 recombination region 108004538|GeneID:108004538 1634226|PMID:1634226 EXISTENCE:DNA dot blot assay evidence [ECO:0005522][PMID:1634226] sub-region ID2' (identical sequence 2'), recombines with sub-region ID2 (identical sequence 2) within the AZFa HERV15yq1 recombination region -chrY 13120461 13121826 LINE:L1PA4 0 + 13120461 13121826 0,0,192 mobile_genetic_element direction; forward 108004538|GeneID:108004538 direction; forward -chrY 13120886 13122314 meiotic 0 + 13120886 13122314 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A and PRDM9 A/B genotypes 108004538|GeneID:108004538 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A and PRDM9 A/B genotypes -chrY 13121826 13122303 retrotransposon:LTR15 0 + 13121826 13122303 0,0,192 mobile_genetic_element direction; forward 108004538|GeneID:108004538 direction; forward -chrY 17923021 17925790 meiotic 0 + 17923021 17925790 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106144556|GeneID:106144556 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 17923815 17924748 non_allelic_homologous 0 + 17923815 17924748 160,82,45 recombination_feature sub-region AMC0110, recombines with sub-region AMC0110' within the AZFb P1.2 recombination region 106144556|GeneID:106144556 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] sub-region AMC0110, recombines with sub-region AMC0110' within the AZFb P1.2 recombination region -chrY 17925002 17925075 non_allelic_homologous 0 + 17925002 17925075 160,82,45 recombination_feature sub-region WHT4396, recombines with sub-region WHT4396' within the AZFb P1.2 recombination region 106144556|GeneID:106144556 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] sub-region WHT4396, recombines with sub-region WHT4396' within the AZFb P1.2 recombination region -chrY 17980113 17982959 meiotic 0 + 17980113 17982959 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 108863624|GeneID:108863624 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 17981230 17982163 non_allelic_homologous 0 + 17981230 17982163 160,82,45 recombination_feature recombines with the AZFb P1.2 recombination region 108863624|GeneID:108863624 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] recombines with the AZFb P1.2 recombination region -chrY 18591398 18592152 recombination_hotspot 0 + 18591398 18592152 160,82,45 recombination_feature A01756/A01184 sub-region, recombines with A01756/A01184' sub-region within the AZFc P1.1b recombination region 108868752|GeneID:108868752 17877719|PMID:17877719 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:17877719] A01756/A01184 sub-region, recombines with A01756/A01184' sub-region within the AZFc P1.1b recombination region -chrY 18591494 18591496 recombination_hotspot 0 + 18591494 18591496 160,82,45 recombination_feature WHT2825 sub-region, recombines with the WHT2825' sub-region within the AZFc P1.1b recombination region, resulting in a large deletion together with a 31 nt insertion 108868752|GeneID:108868752 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] WHT2825 sub-region, recombines with the WHT2825' sub-region within the AZFc P1.1b recombination region, resulting in a large deletion together with a 31 nt insertion -chrY 21719160 21720904 meiotic 0 + 21719160 21720904 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AB genotypes 106144610|GeneID:106144610 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 AA and PRDM9 AB genotypes -chrY 21720279 21720432 non_allelic_homologous 0 + 21720279 21720432 160,82,45 recombination_feature sub-region WHT5557', recombines with sub-region WHT5557 within the IR4 Yp recombination region 106144610|GeneID:106144610 23643616|PMID:23643616 EXISTENCE:fluorescence in situ hybridization evidence [ECO:0001047][PMID:23643616] sub-region WHT5557', recombines with sub-region WHT5557 within the IR4 Yp recombination region -chrY 24091018 24094684 meiotic 0 + 24091018 24094684 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106144557|GeneID:106144557 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 24092506 24093439 non_allelic_homologous 0 + 24092506 24093439 160,82,45 recombination_feature sub-region AMC0110', recombines with sub-region AMC0110 within the AZFb P5.1 recombination region 106144557|GeneID:106144557 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] sub-region AMC0110', recombines with sub-region AMC0110 within the AZFb P5.1 recombination region -chrY 24093693 24093766 non_allelic_homologous 0 + 24093693 24093766 160,82,45 recombination_feature sub-region WHT4396', recombines with sub-region WHT4396 within the AZFb P5.1 recombination region 106144557|GeneID:106144557 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] sub-region WHT4396', recombines with sub-region WHT4396 within the AZFb P5.1 recombination region -chrY 25553235 25553956 recombination_hotspot 0 + 25553235 25553956 160,82,45 recombination_feature A01756/A01184' sub-region, recombines with A01756/A01184 sub-region within the AZFb P4.1 recombination region 108868753|GeneID:108868753 17877719|PMID:17877719 EXISTENCE:polymerase chain reaction evidence [ECO:0000082][PMID:17877719] A01756/A01184' sub-region, recombines with A01756/A01184 sub-region within the AZFb P4.1 recombination region -chrY 25553714 25553716 recombination_hotspot 0 + 25553714 25553716 160,82,45 recombination_feature WHT2825' sub-region, recombines with the WHT2825 sub-region within the AZFb P4.1 recombination region, resulting in a large deletion together with a 31 nt insertion 108868753|GeneID:108868753 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] WHT2825' sub-region, recombines with the WHT2825 sub-region within the AZFb P4.1 recombination region, resulting in a large deletion together with a 31 nt insertion -chrY 25575942 25578366 meiotic 0 + 25575942 25578366 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 106144558|GeneID:106144558 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 25576696 25577629 non_allelic_homologous 0 + 25576696 25577629 160,82,45 recombination_feature recombines with the AZFb P5.2 recombination region 106144558|GeneID:106144558 12297986|PMID:12297986 EXISTENCE:nucleotide sequencing assay evidence [ECO:0000219][PMID:12297986] recombines with the AZFb P5.2 recombination region -chrY 56933916 56937899 meiotic 0 + 56933916 56937899 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype 107838685|GeneID:107838685 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of a male individual with the PRDM9 A/C genotype -chrY 56935367 56936467 meiotic 0 + 56935367 56936467 160,82,45 recombination_feature crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to PRDM9 C-type alleles 107838685|GeneID:107838685 21750151|PMID:21750151 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:21750151] crossovers mapped in sperm cells of males of African ancestry with hotspot activity specific to PRDM9 C-type alleles -chrY 56936151 56936167 nucleotide_motif 0 + 56936151 56936167 192,0,192 sequence_feature nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot 107838685|GeneID:107838685 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity, but not exact identity (6/7 nucleotides), to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC, found close to the center of the hotspot -chrY 56937020 56937036 nucleotide_motif 0 + 56937020 56937036 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC 107838685|GeneID:107838685 21750151|PMID:21750151 COORDINATES:motif similarity evidence [ECO:0000028][PMID:21750151] nucleotide motif; similarity to the predicted 16-mer PRDM9 C-type binding motif, CCNCNNTNNNCNTNNC -chrY 56951377 56956180 meiotic 0 + 56951377 56956180 160,82,45 recombination_feature meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes 107522039|GeneID:107522039 25395542|PMID:25395542 EXISTENCE:chromatin immunoprecipitation-seq evidence [ECO:0000229][PMID:25395542] meiotic double-strand break mapped by DNA meiotic recombinase 1 chromatin immunoprecipitation followed by single-stranded DNA enrichment and sequencing in the germ cells of some male individuals with the PRDM9 A/A, PRDM9 A/B and PRDM9 A/C genotypes -chrY 56953027 56954827 meiotic 0 + 56953027 56954827 160,82,45 recombination_feature crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with the PRDM9 A allele, and little recombination in some individuals with other PRDM9 alleles 107522039|GeneID:107522039 20818382|PMID:20818382 EXISTENCE:DNA detection assay evidence [ECO:0005519][PMID:20818382] crossovers mapped in sperm cells of males of European and African ancestries; recombination frequencies vary with PRDM9 genotypes, with higher recombination frequencies in individuals with the PRDM9 A allele, and little recombination in some individuals with other PRDM9 alleles -chrY 56953743 56953756 nucleotide_motif 0 + 56953743 56953756 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107522039|GeneID:107522039 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot -chrY 56954086 56954099 nucleotide_motif 0 + 56954086 56954099 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107522039|GeneID:107522039 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot -chrY 56954181 56954194 nucleotide_motif 0 + 56954181 56954194 192,0,192 sequence_feature nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot 107522039|GeneID:107522039 19165926|PMID:19165926,20818382|PMID:20818382 COORDINATES:motif similarity evidence [ECO:0000028][PMID:20818382, PMID:19165926] nucleotide motif; similarity to the predicted 13-mer PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC, found near the center of the hotspot