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LOC122128444 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:156045982-156046889 and GRCh37_chr1:156046890-156047796 [ Homo sapiens (human) ]

Gene ID: 122128444, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122128444
Gene description
H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:156045982-156046889 and GRCh37_chr1:156046890-156047796
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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. A subregion was also validated as a functional 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 15:Elon, transcription elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156076191..156078005)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155214656..155216470)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156046849..156047143)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1836 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Neighboring gene RAB25, member RAS oncogene family Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156051244-156052056 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156052057-156052870 Neighboring gene mex-3 RNA binding family member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156056191-156057025 Neighboring gene Sharpr-MPRA regulatory region 15377 Neighboring gene lamin A/C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156067261-156068134 Neighboring gene VISTA enhancer hs2129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156077037-156077778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156087275-156087774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156090429-156091415 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156093390-156094377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1843 Neighboring gene Sharpr-MPRA regulatory region 4592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156096352-156097337 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1849 Neighboring gene semaphorin 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1850 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:156131887-156132038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156146693-156147195

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 silent region 1418
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156045982-156046889
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156046890-156047796
  • Sharpr-MPRA regulatory region 8324

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_076464.2 

    Range
    101..1915
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    156076191..156078005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    155214656..155216470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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