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LOC121627943 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39693343-39694006 [ Homo sapiens (human) ]

Gene ID: 121627943, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627943
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39693343-39694006
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 matched - State 4:PromP, inactive/poised promoter, highly conserved). The same subregion also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121627943 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39297338..39298001)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39767986..39768649)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39693629..39693923)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene platelet derived growth factor subunit B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39632330-39633224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39633225-39634119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13748 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr22:39650154-39650932 and GRCh37_chr22:39650933-39651711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39658425-39658924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39664844-39665376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39673875-39674634 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39673716-39673890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39677709-39678208 Neighboring gene uncharacterized LOC124905119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39690515-39691375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39692677-39693342 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39704579-39705778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39706697-39707237 Neighboring gene small nucleolar RNA, C/D box 83B Neighboring gene small nucleolar RNA, C/D box 83A Neighboring gene ribosomal protein L3

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 2181

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_075135.2 

    Range
    101..764
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    39297338..39298001
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    39767986..39768649
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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