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LOC112533665 H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436 [ Homo sapiens (human) ]

Gene ID: 112533665, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533665
Gene description
H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436
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 (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac histone modification. 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). A genetic variant at this locus, rs3744251, may be associated with coronavirus disease 2019 (COVID-19) and hypertension. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
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Genomic context

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Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7857256..7858118)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7762582..7763444)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7760789..7761083)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene lysine demethylase 6B Neighboring gene uncharacterized LOC107987244 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7756106-7757070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7759303-7759840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7761437-7762298 Neighboring gene transmembrane protein 88 Neighboring gene N-alpha-acetyltransferase 38, NatC auxiliary subunit Neighboring gene cytochrome b5 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7792539-7793108 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806009-7806616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806617-7807223 Neighboring gene small Cajal body-specific RNA 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7818325-7819258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8148 Neighboring gene ring finger protein 227

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. Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis. Guo H, et al. Front Microbiol, 2022. PMID 36187959, Free PMC Article
  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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  4. 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

  • ATAC-STARR-seq lymphoblastoid active region 11651
  • Sharpr-MPRA regulatory region 4002

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_057156.2 

    Range
    101..963
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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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7857256..7858118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7762582..7763444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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