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LOC120807610 H3K27me3-DHS negatively-acting regulatory element H1 [ Homo sapiens (human) ]

Gene ID: 120807610, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120807610
Gene description
H3K27me3-DHS negatively-acting regulatory element H1
Gene type
biological region
Feature type(s)
regulatory: transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be a gene regulatory element based on the presence of histone H3 lysine 27 tri-methylation overlapping a DNase I hypersensitive site (H3K27me3-DHS). It was experimentally validated as a negatively-acting cis element that reduces activity of an enhancer-driven reporter gene in K562 erythroleukemia cells. [provided by RefSeq, Mar 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222616507..222617089)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221850248..221850806)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222789849..222790431)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:222699854-222700038 Neighboring gene HHIP like 2 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2576 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:222763242-222763775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:222763776-222764308 Neighboring gene TAF1A antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:222791257-222792139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2577 Neighboring gene MIA SH3 domain ER export factor 3 Neighboring gene prefoldin subunit 5-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:222816645-222817522 and GRCh37_chr1:222817523-222818398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2581 Neighboring gene axin interactor, dorsalization associated Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5183 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:222885601-222886515

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. Identification of human silencers by correlating cross-tissue epigenetic profiles and gene expression. Huang D, et al. Genome Res, 2019 Apr. PMID 30886051, 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)

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_073736.1 

    Range
    101..683
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    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    222616507..222617089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    221850248..221850806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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