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LOC123956191 H3K4me1 hESC enhancer GRCh37_chr7:100823355-100824077 [ Homo sapiens (human) ]

Gene ID: 123956191, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123956191
Gene description
H3K4me1 hESC enhancer GRCh37_chr7:100823355-100824077
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 H3K4me1 histone modification. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101180074..101180796)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102502822..102503544)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100823449..100823743)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 1 subunit sigma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18475 Neighboring gene microRNA 4653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18478 Neighboring gene VGF nerve growth factor inducible Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100812095-100812265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100814834-100815448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100815449-100816062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100816063-100816676 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100816815-100817027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100817327-100817832 Neighboring gene N-acetyltransferase 16 (putative) Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100825811-100826028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100838952-100839452 Neighboring gene monoacylglycerol O-acyltransferase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100845469-100846276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100846277-100847083 Neighboring gene diacylglycerol O-acyltransferase 2 like 7, pseudogene

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 2161

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_078385.2 

    Range
    101..823
    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
    101180074..101180796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    102502822..102503544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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