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LOC123620104 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37093727-37094705 [ Homo sapiens (human) ]

Gene ID: 123620104, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123620104
Gene description
OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37093727-37094705
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. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive and primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC123620104 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 (37125951..37126929)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36949491..36950461)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37094089..37094383)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.2470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24451 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37024071-37024957 Neighboring gene COX6A1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37025005-37025506 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37025507-37026006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17126 Neighboring gene Sharpr-MPRA regulatory region 8589 Neighboring gene Sharpr-MPRA regulatory region 8119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37045201-37045729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37051359-37051859 Neighboring gene Sharpr-MPRA regulatory region 7768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37069635-37070242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37070243-37070850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17129 Neighboring gene ribosomal protein L12 pseudogene 2 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37083327-37083916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37091769-37092747 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37092748-37093726 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37094807-37095484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37098237-37099155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37099156-37100073 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37105214-37106050 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37109113-37109630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37137173-37137771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17131 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:37139693-37140286 Neighboring gene CRISPR perturbation-validated PIM1 cis-regulatory element TAD2.SE2.HS2 Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene Sharpr-MPRA regulatory region 1580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17134 Neighboring gene transmembrane protein 217B Neighboring gene transmembrane protein 217 Neighboring gene Sharpr-MPRA regulatory region 10381 Neighboring gene small nucleolar RNA U13

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

  • Sharpr-MPRA regulatory region 7886

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_078088.2 

    Range
    101..1079
    Download
    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
    37125951..37126929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    36949491..36950461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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