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LOC123833531 H3K27ac hESC enhancer GRCh37_chr6:117936764-117937504 [ Homo sapiens (human) ]

Gene ID: 123833531, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123833531
Gene description
H3K27ac hESC enhancer GRCh37_chr6:117936764-117937504
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 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 non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117615601..117616341)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118799841..118800581)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117937209..117937503)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 253, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25003 Neighboring gene discoidin, CUB and LCCL domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25007 Neighboring gene golgi associated PDZ and coiled-coil motif containing Neighboring gene Sharpr-MPRA regulatory region 12404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25011 Neighboring gene nephrocan, pseudogene Neighboring gene uncharacterized LOC101927919 Neighboring gene MPRA-validated peak6055 silencer Neighboring gene NUS1 dehydrodolichyl diphosphate synthase subunit

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 8561

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_078185.2 

    Range
    101..841
    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
    117615601..117616341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    118799841..118800581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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