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    LOC120893136 Sharpr-MPRA regulatory region 4453 [ Homo sapiens (human) ]

    Gene ID: 120893136, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC120893136
    Gene description
    Sharpr-MPRA regulatory region 4453
    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. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Mar 2021]
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    Genomic context

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    Location:
    1p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54287236..54287530)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54170077..54170371)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54752909..54753203)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54689121-54689841 Neighboring gene mitochondrial ribosomal protein L37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54704367-54704867 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54712147-54712309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54714101-54714600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54715268-54715931 Neighboring gene SSBP3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54716595-54717257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54717258-54717919 Neighboring gene single stranded DNA binding protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54728759-54729751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54738457-54739025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54740736-54741304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54746851-54747658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54755897-54756569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54763406-54763906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54763907-54764407 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54777293-54777798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54777799-54778302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54794077-54794739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54797494-54798031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54802703-54803326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54808704-54809225 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:54816098-54816645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54818040-54818718 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54820753-54821430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54838933-54839482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54841683-54842232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1061 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54842784-54843333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54843885-54844433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54844434-54844984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54857123-54857644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54857645-54858164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:54870662-54871573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 917 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:54873396-54874305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54876715-54877490 Neighboring gene VISTA enhancer hs1487 Neighboring gene Sharpr-MPRA regulatory region 12771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54929901-54930736 Neighboring gene Sharpr-MPRA regulatory region 12692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54933797-54934298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54937369-54937869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54940477-54941110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54941111-54941744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54941745-54942377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54945522-54946108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54953393-54953911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 918 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54954958-54955168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54965271-54965822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54965823-54966374 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54973259-54973431 Neighboring gene uncharacterized LOC105378735 Neighboring gene long intergenic non-protein coding RNA 2784 Neighboring gene transaldolase 1 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

    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)

    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_073895.1 

      Range
      101..395
      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
      54287236..54287530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      54170077..54170371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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