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LOC123833537 H3K27ac hESC enhancer GRCh37_chr6:123110213-123110714 [ Homo sapiens (human) ]

Gene ID: 123833537, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123833537
Gene description
H3K27ac hESC enhancer GRCh37_chr6:123110213-123110714
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. The major subregion was validated as an active enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac histone modification. 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 K562 erythroleukemia cells (group: K562 Repressive 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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Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (122789068..122789578)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (123977361..123977871)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123110429..123110723)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:123076853-123077432 Neighboring gene RNA, 7SL, cytoplasmic 564, pseudogene Neighboring gene fatty acid binding protein 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:123110715-123111214 Neighboring gene Sharpr-MPRA regulatory region 4155 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89596 Neighboring gene Sharpr-MPRA regulatory region 10347 Neighboring gene sphingomyelin phosphodiesterase acid like 3A Neighboring gene MPRA-validated peak6080 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123141927-123142470 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123142471-123143014 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123165703-123166295 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123166296-123166889 Neighboring gene ATP synthase membrane subunit g pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25022 Neighboring gene uncharacterized LOC124901392

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 5986

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_078191.2 

    Range
    101..611
    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
    122789068..122789578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    123977361..123977871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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