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LOC129935952 ATAC-STARR-seq lymphoblastoid active region 17387 [ Homo sapiens (human) ]

Gene ID: 129935952, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129935952
Gene description
ATAC-STARR-seq lymphoblastoid active region 17387
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 LOC129935952 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 (239303139..239303228)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (239793748..239793837)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (240224834..240224923)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene histone deacetylase 4 Neighboring gene uncharacterized LOC124908009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240111156-240111673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240111674-240112190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240112520-240113118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240117946-240118446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240123022-240123588 Neighboring gene uncharacterized LOC85009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240134871-240135376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240136104-240136802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240136803-240137501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240146814-240147708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240152211-240152711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240153455-240153994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240165567-240166264 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:240168807-240170006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240174119-240174620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240183749-240184248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240185799-240186466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240194739-240195516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17386 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:240197413-240197621 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240212885-240213414 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240213415-240213946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12499 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:240217222-240217838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240217839-240218454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240229260-240229906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240232601-240233101 Neighboring gene microRNA 4269 Neighboring gene microRNA 2467

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_168963.1 

    Range
    101..190
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    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
    239303139..239303228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    239793748..239793837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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