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LOC123575649 hESC enhancers GRCh37_chr6:3165973-3166571 and GRCh37_chr6:3166572-3167171 [ Homo sapiens (human) ]

Gene ID: 123575649, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123575649
Gene description
hESC enhancers GRCh37_chr6:3165973-3166571 and GRCh37_chr6:3166572-3167171
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. Two subregions were validated as active enhancers by ChIP-STARR-seq in primed human embryonic stem cells, where both are associated with the OCT4 and NANOG transcription factors and are marked by the H3K27ac histone modification, and one is additionally marked by H3K4me1. An overlapping subregion was also validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Oct 2022]
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Genomic context

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See LOC123575649 in Genome Data Viewer
Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3165739..3166937)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3032953..3034151)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3166529..3166823)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tubulin beta 2A class IIa Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16846 Neighboring gene uncharacterized LOC105374889 Neighboring gene CRISPRi-validated cis-regulatory element chr6.177 Neighboring gene CRISPRi-validated cis-regulatory element chr6.179 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:3167172-3167770 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3168370-3168967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3177505-3178025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3178965-3179464 Neighboring gene tubulin beta 2B class IIb pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23884 Neighboring gene Sharpr-MPRA regulatory region 8965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3194625-3195180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3195181-3195734

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:3166572-3167171
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3165973-3166571
  • Sharpr-MPRA regulatory region 12208

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_077908.2 

    Range
    101..1299
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    3165739..3166937
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    3032953..3034151
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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