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LOC121853027 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756381-35756886 [ Homo sapiens (human) ]

Gene ID: 121853027, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121853027
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756381-35756886
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 non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34384083..34384588)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32766135..32766640)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35756489..35756783)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35575958-35576956 Neighboring gene VISTA enhancer hs2174 Neighboring gene uncharacterized LOC105372791 Neighboring gene Sharpr-MPRA regulatory region 13847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35755873-35756380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756972-35757494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35757495-35758015 Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 2 Neighboring gene small integral membrane protein 11 Neighboring gene salivary glue protein Sgs-3 Neighboring gene chromosome 21 open reading frame 140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35788990-35790189 Neighboring gene small integral membrane protein 34

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 8334

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_076135.2 

    Range
    101..606
    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    34384083..34384588
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32766135..32766640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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