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LOC130002967 ATAC-STARR-seq lymphoblastoid active region 29290 [ Homo sapiens (human) ]

Gene ID: 130002967, updated on 14-Oct-2023

Summary

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Gene symbol
LOC130002967
Gene description
ATAC-STARR-seq lymphoblastoid active region 29290
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 LOC130002967 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (134925016..134925155)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147146694..147146833)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101448202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:137755823-137756551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:137756552-137757279 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:137764334-137764507 Neighboring gene MPRA-validated peak7344 silencer Neighboring gene ficolin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:137781651-137782151 Neighboring gene ficolin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:137820358-137821216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:137821217-137822074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29291 Neighboring gene uncharacterized LOC105376314 Neighboring gene uncharacterized LOC124902302 Neighboring gene uncharacterized LOC105376313

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

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_182413.1 

    Range
    101..240
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    134925016..134925155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    147146694..147146833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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