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LOC112272621 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:80452567-80453210 and GRCh37_chr15:80453211-80453853 [ Homo sapiens (human) ]

Gene ID: 112272621, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112272621
Gene description
H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:80452567-80453210 and GRCh37_chr15:80453211-80453853
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 as active enhancers by ChIP-STARR-seq in primed 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 DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh). [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80160225..80161511)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78023644..78024930)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80452989..80453283)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribonucleotide reductase regulatory subunit M2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80293949-80294721 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:80295257-80296456 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9942 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:80320394-80320775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80324347-80325092 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80325093-80325836 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80325837-80326580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80332051-80332550 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:80351696-80352024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9943 Neighboring gene zinc finger AN1-type containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80404705-80405431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6731 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80460174-80460674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80478509-80479009 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41453 Neighboring gene fumarylacetoacetate hydrolase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41475 Neighboring gene cortexin domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr15:80534358-80534901 Neighboring gene long intergenic non-protein coding RNA 927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80610139-80610639

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_chr15:80452567-80453210
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80453211-80453853
  • Sharpr-MPRA regulatory region 12283

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_056755.2 

    Range
    101..1387
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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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    80160225..80161511
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    78023644..78024930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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