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LOC127824248 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009 [ Homo sapiens (human) ]

Gene ID: 127824248, updated on 12-Sep-2024

Summary

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Gene symbol
LOC127824248
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009
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 region includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. 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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See LOC127824248 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53047334..53048225)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53011712..53012603)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53441118..53442009)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 8 Neighboring gene KRT18 locus control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53358683-53359326 Neighboring gene keratin 18 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365007-53365934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365935-53366860 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53397033-53397195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53399611-53400354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53400355-53401098 Neighboring gene eukaryotic translation initiation factor 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53442010-53442853 Neighboring gene TNS2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53459723-53460224 Neighboring gene tensin 2 Neighboring gene microRNA 6757 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr12:53465666-53466166 and GRCh37_chr12:53466167-53466667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4492 Neighboring gene SPRY domain containing 3

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 4491

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_125768.2 

    Range
    101..992
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    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    53047334..53048225
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53011712..53012603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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