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LOC124188237 H3K4me1 hESC enhancer GRCh37_chr8:134277906-134278406 [ Homo sapiens (human) ]

Gene ID: 124188237, updated on 12-Sep-2024

Summary

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Gene symbol
LOC124188237
Gene description
H3K4me1 hESC enhancer GRCh37_chr8:134277906-134278406
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 primed 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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See LOC124188237 in Genome Data Viewer
Location:
8q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (133265663..133266163)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (134389752..134390252)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (134277906..134278406)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375769 Neighboring gene NANOG hESC enhancer GRCh37_chr8:134157066-134157567 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134194436-134195635 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:134204154-134204401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134208271-134208770 Neighboring gene uncharacterized LOC102723635 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134224019-134225218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19560 Neighboring gene cellular communication network factor 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134229946-134231145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134234981-134235482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27993 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19561 Neighboring gene N-myc downstream regulated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134272289-134272788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134297442-134297942 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134305980-134307179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19562 Neighboring gene ribosomal protein L32 pseudogene 20 Neighboring gene uncharacterized LOC105375771 Neighboring gene uncharacterized LOC105375772

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 3770

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_078712.2 

    Range
    101..601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    133265663..133266163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    134389752..134390252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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