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LOC130061693 ATAC-STARR-seq lymphoblastoid active region 12781 [ Homo sapiens (human) ]

Gene ID: 130061693, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130061693
Gene description
ATAC-STARR-seq lymphoblastoid active region 12781
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 represents an accessible chromatin region 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) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC130061693 in Genome Data Viewer
Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75855421..75855550)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76748572..76748701)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73851502..73851631)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73780981-73781559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73781560-73782137 Neighboring gene unk zinc finger Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73810697-73811198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73811199-73811698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73812483-73812984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73812985-73813484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73825830-73826818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73826819-73827806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73831316-73831816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73832318-73833318 Neighboring gene unc-13 homolog D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73834667-73835166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73840002-73840706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73852240-73853035 Neighboring gene WW domain binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 12387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73861034-73861534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73864718-73865644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73872205-73873120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73873121-73874036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73874037-73874952 Neighboring gene tripartite motif containing 47 Neighboring gene tripartite motif containing 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73892749-73893458

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

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_194988.1 

    Range
    101..230
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75855421..75855550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76748572..76748701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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