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    LOC112577505 hESC enhancers GRCh37_chr1:16488540-16489068 and GRCh37_chr1:16489069-16489596 [ Homo sapiens (human) ]

    Gene ID: 112577505, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC112577505
    Gene description
    hESC enhancers GRCh37_chr1:16488540-16489068 and GRCh37_chr1:16489069-16489596
    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 were shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both subregions are marked by the H3K4me1 histone modifications and one is additionally marked by H3K27ac. A 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 K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin), with weaker activity in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). 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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    See LOC112577505 in Genome Data Viewer
    Location:
    1p
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16162045..16163101)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15603439..15604495)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16488540..16489596)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CLCNKB recombination region Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16387001-16387191 Neighboring gene family with sequence similarity 131 member C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16400409-16400908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408357-16408856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408906-16409838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16440794-16441636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16442478-16443319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16444655-16445328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16446600-16447156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16449091-16449770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16457212-16457413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16467866-16468833 Neighboring gene EPH receptor A2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470345-16470872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470873-16471401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16472987-16473515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16476741-16477376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16477377-16478012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16489597-16490124 Neighboring gene EPHA2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16490125-16490652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16491605-16492545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16494833-16495478 Neighboring gene Sharpr-MPRA regulatory region 6356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16508387-16509367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16510195-16510694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16510785-16511286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16511287-16511786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16533787-16534760 Neighboring gene Rho guanine nucleotide exchange factor 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16534761-16535733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16538951-16539649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16542837-16543533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 329 Neighboring gene anoctamin 7 like 1 (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. 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 within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. 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 Variation Viewer (GRCh37.p13)

    General gene information

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    Other Names

    • ATAC-STARR-seq lymphoblastoid active region 260
    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16489069-16489596
    • H3K4me1 hESC enhancer GRCh37_chr1:16488540-16489068
    • Sharpr-MPRA regulatory region 8013

    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_060221.2 

      Range
      101..1157
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16162045..16163101
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      15603439..15604495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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