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LOC112577475 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110883828-110884393 [ Homo sapiens (human) ]

Gene ID: 112577475, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112577475
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110883828-110884393
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 and H3K4me1 histone modifications. 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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 2:TssF, active promoter, flanking TSS/CpG islands). The same subregion also displayed weak activation by Sharpr-MPRA in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 2:TssF). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC112577475 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (110341206..110341771)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (110356261..110356826)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110883828..110884393)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily C member 4 Neighboring gene uncharacterized LOC124900436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1466 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110837163-110837321 Neighboring gene RBM15 antisense RNA 1 Neighboring gene uncharacterized LOC124904276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:110882428-110883166 Neighboring gene RNA binding motif protein 15 Neighboring gene solute carrier family 16 member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1471 Neighboring gene LAMTOR5 and SLC16A4 antisense RNA 1 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 11911

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_060038.2 

    Range
    101..666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    110341206..110341771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    110356261..110356826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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