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LOC121725204 H3K27ac hESC enhancer GRCh37_chr5:43073915-43074416 [ Homo sapiens (human) ]

Gene ID: 121725204, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725204
Gene description
H3K27ac hESC enhancer GRCh37_chr5:43073915-43074416
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 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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43073813..43074314)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43326714..43327215)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43073989..43074283)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ANXA2R overlapping transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43042769-43043306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43043307-43043842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43044419-43044918 Neighboring gene ANXA2R antisense RNA 1 Neighboring gene annexin A2 receptor Neighboring gene Sharpr-MPRA regulatory region 2707 Neighboring gene uncharacterized LOC100132356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22532 Neighboring gene uncharacterized LOC100506639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43074417-43074916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43078210-43078763 Neighboring gene uncharacterized LOC124900972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43121535-43122103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43122104-43122671 Neighboring gene zinc finger protein 131

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 15399

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_075676.2 

    Range
    101..602
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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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    43073813..43074314
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    43326714..43327215
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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