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LOC129934843 ATAC-STARR-seq lymphoblastoid active region 16580 [ Homo sapiens (human) ]

Gene ID: 129934843, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129934843
Gene description
ATAC-STARR-seq lymphoblastoid active region 16580
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 LOC129934843 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (135985373..135985472)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (136429799..136429898)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (136742943..136743042)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:136656467-136656966 Neighboring gene MANEAL pseudogene 1 Neighboring gene uncharacterized LOC124906078 Neighboring gene aspartyl-tRNA synthetase 1 Neighboring gene MPRA-validated peak3879 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:136718531-136719032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11984 Neighboring gene DARS1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16583 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:136846458-136846659 Neighboring gene NANOG hESC enhancer GRCh37_chr2:136850708-136851567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16585 Neighboring gene C-X-C motif chemokine receptor 4 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 2

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_167859.1 

    Range
    101..200
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    135985373..135985472
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    136429799..136429898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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