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LOC121144498 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1594659-1595459 [ Homo sapiens (human) ]

Gene ID: 121144498, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121144498
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1594659-1595459
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 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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1555023..1555823)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1667151..1667951)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1595029..1595323)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1563055-1563777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17857 Neighboring gene uncharacterized LOC100128653 Neighboring gene Sharpr-MPRA regulatory region 13805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1575241-1576184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1576185-1577128 Neighboring gene MAF bZIP transcription factor K Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1578073-1579015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25495 Neighboring gene transmembrane protein 184A Neighboring gene ReSE screen-validated silencer GRCh37_chr7:1594367-1594549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1595460-1596259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1599484-1599984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1599985-1600485 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:1606554-1607122 and GRCh37_chr7:1607123-1607691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:1609398-1609966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25497 Neighboring gene PSMG3 antisense RNA 1 (head to head) Neighboring gene proteasome assembly chaperone 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1615363-1616185 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1616186-1617008

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 1064

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_074262.2 

    Range
    101..901
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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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    1555023..1555823
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    1667151..1667951
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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