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LOC112694736 H3K27ac hESC enhancers GRCh37_chr21:33764587-33765369 and GRCh37_chr21:33765370-33766151 [ Homo sapiens (human) ]

Gene ID: 112694736, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694736
Gene description
H3K27ac hESC enhancers GRCh37_chr21:33764587-33765369 and GRCh37_chr21:33765370-33766151
Gene type
biological region
Feature type(s)
regulatory: enhancer
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. Two subregions marked by the H3K27ac histone modification were validated as active enhancers by ChIP-STARR-seq in primed human embryonic stem cells. An overlapping subregion was also validated as a functional enhancer 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 Activating DNase matched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32392278..32393842)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (30762126..30763656)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33765229..33765523)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 333 Neighboring gene melanocortin 2 receptor accessory protein Neighboring gene MRAP antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:33702964-33703556 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33706649-33707848 Neighboring gene URB1 ribosome biogenesis homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18361 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33754437-33755636 Neighboring gene small nucleolar RNA, H/ACA box 80A Neighboring gene URB1 antisense RNA 1 (head to head) Neighboring gene eva-1 homolog C Neighboring gene histone demethylase UTY-like Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:33835794-33836993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33863242-33863751 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:33865612-33866201 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33867056-33868255 Neighboring gene exosome component 3 pseudogene 1

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid active region 18362
  • H3K27ac hESC enhancer GRCh37_chr21:33764587-33765369
  • H3K27ac hESC enhancer GRCh37_chr21:33765370-33766151
  • Sharpr-MPRA regulatory region 9918

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_060768.2 

    Range
    101..1665
    Download
    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    32392278..32393842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    30762126..30763656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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