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LOC124153117 H3K4me1 hESC enhancer GRCh37_chr8:21893938-21894622 [ Homo sapiens (human) ]

Gene ID: 124153117, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124153117
Gene description
H3K4me1 hESC enhancer GRCh37_chr8:21893938-21894622
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 ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. An overlapping subregion was also validated as a functional 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 DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22036427..22037112)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22310384..22311069)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21894329..21894623)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene exportin 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21802075-21802708 Neighboring gene uncharacterized LOC124901903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21806752-21807252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27071 Neighboring gene VISTA enhancer hs783 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21867514-21868173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21868174-21868832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21880733-21881446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21881447-21882159 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21894623-21895307 Neighboring gene nucleophosmin/nucleoplasmin 2 Neighboring gene VISTA enhancer hs782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903342-21903848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903849-21904354 Neighboring gene VISTA enhancer hs781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21908959-21909751 Neighboring gene fibroblast growth factor 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21915443-21916404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21917368-21918329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18975 Neighboring gene dematin actin binding protein

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 13343

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_078505.2 

    Range
    101..786
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    22036427..22037112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22310384..22311069
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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