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LOC112577575 H3K27ac hESC enhancer GRCh37_chr1:28695423-28696378 [ Homo sapiens (human) ]

Gene ID: 112577575, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577575
Gene description
H3K27ac hESC enhancer GRCh37_chr1:28695423-28696378
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC112577575 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28368912..28369867)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28210745..28211700)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28696029..28696323)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28585772-28586620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 537 Neighboring gene sestrin 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:28616419-28617413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28640148-28640648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28655585-28656092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28656093-28656600 Neighboring gene mediator complex subunit 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 538 Neighboring gene phosphatase and actin regulator 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:28726665-28726882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 539 Neighboring gene Sharpr-MPRA regulatory region 2241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 540 Neighboring gene RNA, U6atac small nuclear 27, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7965 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28833855-28834620 Neighboring gene small nucleolar RNA, H/ACA box 73A Neighboring gene small nucleolar RNA host gene 3 Neighboring gene regulator of chromosome condensation 1

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 70

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_060491.2 

    Range
    101..1056
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    28368912..28369867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    28210745..28211700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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