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LOC112543445 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12074983-12075936 [ Homo sapiens (human) ]

Gene ID: 112543445, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112543445
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12074983-12075936
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 non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin), with weaker activation in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11964168..11965121)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12092378..12093331)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12075629..12075923)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 69 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12035565-12036137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10135 Neighboring gene zinc finger protein 700 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:12060504-12060733 Neighboring gene vomeronasal 2 receptor 21 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10136 Neighboring gene zinc finger protein 763 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12098284-12099226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12099227-12100168 Neighboring gene ZNF433 and ZNF878 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14042 Neighboring gene RNA, 5S ribosomal pseudogene 464 Neighboring gene zinc finger protein 433 Neighboring gene RNA, 5S ribosomal pseudogene 465

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 6121

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_057394.2 

    Range
    101..1054
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    11964168..11965121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12092378..12093331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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