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LOC130008242 ATAC-STARR-seq lymphoblastoid active region 6620 [ Homo sapiens (human) ]

Gene ID: 130008242, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130008242
Gene description
ATAC-STARR-seq lymphoblastoid active region 6620
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 LOC130008242 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 (66500717..66500826)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (66480198..66480307)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66894497..66894606)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105369811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66801605-66802105 Neighboring gene glutamate receptor interacting protein 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66890797-66891645 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66891646-66892493 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:66978252-66978488 Neighboring gene oxysterol binding protein like 9 pseudogene 4 Neighboring gene oxysterol binding protein like 9 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6621 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67052705-67053206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4638 Neighboring gene Sharpr-MPRA regulatory region 5579 Neighboring gene VISTA enhancer hs1498 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67175965-67176466 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:67224101-67224271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67279097-67279597 Neighboring gene uncharacterized LOC124902956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6622

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_186811.1 

    Range
    101..210
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    66500717..66500826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    66480198..66480307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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