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LOC121627880 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46141481-46142332 [ Homo sapiens (human) ]

Gene ID: 121627880, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121627880
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46141481-46142332
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 naive 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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 3:PromF, promoter flanking). The same subregion also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 2:TssF, active promoter, flanking TSS/CpG islands). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121627880 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45638223..45639074)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48465489..48466340)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46141481..46142332)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene outer mitochondrial membrane lipid metabolism regulator OPA3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46056279-46056909 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46056910-46057539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46061287-46061787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46065110-46065908 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46066707-46067504 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:46067505-46068302 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:46080520-46081155 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46084233-46084733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46085233-46086168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46086169-46087104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46100634-46101271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46101272-46101908 Neighboring gene G protein-coupled receptor 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46119367-46120205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46120206-46121043 Neighboring gene EMAP like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46130698-46131198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46142333-46143184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46145740-46146591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46148647-46149146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46150807-46151667 Neighboring gene EML2 antisense RNA 1 Neighboring gene microRNA 330 Neighboring gene RNA, 7SL, cytoplasmic 836, pseudogene

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 4040

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_075071.2 

    Range
    101..952
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    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45638223..45639074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48465489..48466340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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