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    LOC127276319 H3K27ac hESC enhancer GRCh37_chr2:239196796-239197690 [ Homo sapiens (human) ]

    Gene ID: 127276319, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC127276319
    Gene description
    H3K27ac hESC enhancer GRCh37_chr2:239196796-239197690
    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 was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. 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 LOC127276319 in Genome Data Viewer
    Location:
    chromosome: 2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238288155..238289049)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238777894..238778788)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239196796..239197690)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239142883-239143384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239147110-239147678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239149579-239150084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239150085-239150590 Neighboring gene TARDBP pseudogene 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:239154789-239155988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239156797-239157297 Neighboring gene hes family bHLH transcription factor 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239172424-239172924 Neighboring gene period circadian regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239179613-239180112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239187958-239188582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239190897-239191397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239192245-239192744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239196189-239196711 Neighboring gene uncharacterized LOC112268433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17380 Neighboring gene MPRA-validated peak4101 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239223693-239224192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12496 Neighboring gene TRAF3 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17381 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:239276069-239276272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239317872-239318404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239318939-239319470 Neighboring gene RNA, U6 small nuclear 234, pseudogene

    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 12493

    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_098162.1 

      Range
      101..995
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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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      238288155..238289049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238777894..238778788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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