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LOC130008110 ATAC-STARR-seq lymphoblastoid active region 6522 [ Homo sapiens (human) ]

Gene ID: 130008110, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130008110
Gene description
ATAC-STARR-seq lymphoblastoid active region 6522
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 LOC130008110 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 (57069881..57069950)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57037752..57037821)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57463664..57463733)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tachykinin precursor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57423222-57424059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6521 Neighboring gene myosin IA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4571 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57485501-57485781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4572 Neighboring gene Sharpr-MPRA regulatory region 4597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57488515-57489045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57489590-57490426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57493803-57494325 Neighboring gene NGFI-A binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57495608-57496108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57496109-57496609 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57504271-57505218 Neighboring gene uncharacterized LOC124902946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57505219-57506164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4574

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_188644.1 

    Range
    101..170
    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
    57069881..57069950
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57037752..57037821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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