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LOC113748395 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5601490-5602016 [ Homo sapiens (human) ]

Gene ID: 113748395, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748395
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5601490-5602016
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 1:Tss). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC113748395 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5561859..5562385)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5679381..5679907)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5601589..5601883)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5567118-5567988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5567989-5568858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5568859-5569728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5573209-5574078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5586399-5586898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5593001-5593846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5594693-5595538 Neighboring gene actin beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5595539-5596384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5597701-5598249 Neighboring gene S100 calcium binding protein A11 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5602017-5602541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5602542-5603067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5609174-5610162 Neighboring gene CRISPRi-validated cis-regulatory element chr7.769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5626381-5626880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17926 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5633617-5634192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5634770-5635345 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:5636965-5637180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5642390-5643243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5643244-5644096 Neighboring gene Sharpr-MPRA regulatory region 1133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5648079-5648632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5655393-5656132 Neighboring gene fascin actin-bundling protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5666829-5667500 Neighboring gene VISTA enhancer hs1623 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5678992-5679856 Neighboring gene ring finger protein 216 Neighboring gene RNF216 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25605

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  2. 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
  3. 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 4030

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_062506.2 

    Range
    101..627
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    5561859..5562385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    5679381..5679907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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