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LOC122787143 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85442025-85442959 [ Homo sapiens (human) ]

Gene ID: 122787143, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122787143
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85442025-85442959
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 20:ReprD). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122787143 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85214902..85215836)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85216808..85217742)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85442209..85442503)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transcription factor 7 like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85416914-85417415 Neighboring gene TCF7L1 intronic transcript 1 Neighboring gene RNA, U6 small nuclear 674, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85440681-85441182 Neighboring gene uncharacterized LOC102724579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85461879-85462384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85464915-85465420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85465421-85465924 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85482618-85483340 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85483341-85484064 Neighboring gene Sharpr-MPRA regulatory region 427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85486956-85487677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85489661-85490588 Neighboring gene SNRPE pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85517073-85517573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85521502-85522173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85533336-85533836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85536759-85537642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85540508-85541008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16117 Neighboring gene trans-golgi network protein 2

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 8481

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_076972.2 

    Range
    101..1035
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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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    85214902..85215836
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791763.1 Reference GRCh38.p14 PATCHES

    Range
    141088..142022
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    85216808..85217742
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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