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LOC121967083 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12537802-12538659 [ Homo sapiens (human) ]

Gene ID: 121967083, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121967083
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12537802-12538659
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 H3K27ac and H3K4me1 histone modifications. 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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121967083 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12477747..12478604)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (12021891..12022748)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12538149..12538443)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 13 homolog D Neighboring gene uncharacterized LOC124903845 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:12418393-12418894 Neighboring gene Sharpr-MPRA regulatory region 10571 Neighboring gene uncharacterized LOC124904680 Neighboring gene NFE2L2 motif-containing MPRA enhancer 265 Neighboring gene Sharpr-MPRA regulatory region 15009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12538660-12539516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12541249-12541767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12557015-12557515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12568463-12568964 Neighboring gene small nucleolar RNA, H/ACA box 59A Neighboring gene long intergenic non-protein coding RNA 2766

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 8719

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_076223.2 

    Range
    101..958
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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
    12477747..12478604
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    12021891..12022748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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