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LOC112163635 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:85711317-85711919 and GRCh37_chr12:85711920-85712521 [ Homo sapiens (human) ]

Gene ID: 112163635, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112163635
Gene description
H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:85711317-85711919 and GRCh37_chr12:85711920-85712521
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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were validated active enhancers by ChIP-STARR-seq in human embryonic stem cells. An overlapping subregion was also validated as a functional 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 non-DNase unmatched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (85317539..85318743)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (85297887..85299091)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85711649..85711943)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and IQ motif containing 1 Neighboring gene Sharpr-MPRA regulatory region 79 Neighboring gene ALX homeobox 1 Neighboring gene long intergenic non-protein coding RNA 2820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6693 Neighboring gene uncharacterized LOC107984537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6694 Neighboring gene Sharpr-MPRA regulatory region 923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:85920823-85921324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:85921325-85921824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6695 Neighboring gene p53 and DNA damage-regulated protein 1-like

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:85711317-85711919
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:85711920-85712521
  • Sharpr-MPRA regulatory region 9199

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_056612.2 

    Range
    101..1305
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    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    85317539..85318743
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    85297887..85299091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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