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LOC130056109 ATAC-STARR-seq lymphoblastoid active region 8739 [ Homo sapiens (human) ]

Gene ID: 130056109, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130056109
Gene description
ATAC-STARR-seq lymphoblastoid active region 8739
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 LOC130056109 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75249758..75249927)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69459154..69459323)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75716461..75716630)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transmembrane p24 trafficking protein 10 Neighboring gene Sharpr-MPRA regulatory regions 714 and 744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75619067-75619731 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75643139-75643711 Neighboring gene RNA, U4atac small nuclear 14, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75687528-75688425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75688426-75689322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75689323-75690220 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1538 Neighboring gene VISTA enhancer hs1657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:75720649-75721848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75723647-75724146 Neighboring gene VISTA enhancer hs1481 Neighboring gene uncharacterized LOC124903434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5943 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75745521-75746448 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75746449-75747374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75747401-75747960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75747961-75748520 Neighboring gene Fos proto-oncogene, AP-1 transcription factor subunit

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_190530.1 

    Range
    101..270
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    75249758..75249927
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    69459154..69459323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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