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LOC122756669 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24246333-24247318 [ Homo sapiens (human) ]

Gene ID: 122756669, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122756669
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24246333-24247318
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 naive 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 DNase matched - State 25:Art, potential CNV or repetitive artifacts) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122756669 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24023463..24024448)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24058161..24059146)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24246333..24247318)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 2A Neighboring gene SDHC pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 610, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24238941-24239496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24239497-24240052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:24244092-24244708 Neighboring gene MFSD2 lysolipid transporter B, sphingolipid Neighboring gene FKBP prolyl isomerase 1B Neighboring gene WD repeat and coiled coil containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11225 Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:24276709-24276900 Neighboring gene Sharpr-MPRA regulatory region 5215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24298482-24299014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24299015-24299546 Neighboring gene splicing factor 3b subunit 6

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 11775

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_076885.2 

    Range
    101..1086
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    24023463..24024448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    24058161..24059146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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