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LOC129935943 ATAC-STARR-seq lymphoblastoid active region 17381 [ Homo sapiens (human) ]

Gene ID: 129935943, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129935943
Gene description
ATAC-STARR-seq lymphoblastoid active region 17381
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 LOC129935943 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 (238346560..238346649)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238836349..238836438)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239255201..239255290)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239147110-239147678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239149579-239150084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239150085-239150590 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:239154789-239155988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239156797-239157297 Neighboring gene hes family bHLH transcription factor 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239172424-239172924 Neighboring gene period circadian regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239179613-239180112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239187958-239188582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239190897-239191397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239192245-239192744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239196189-239196711 Neighboring gene uncharacterized LOC112268433 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:239196796-239197690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17380 Neighboring gene MPRA-validated peak4101 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239223693-239224192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12496 Neighboring gene TRAF3 interacting protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:239276069-239276272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239317872-239318404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239318939-239319470 Neighboring gene RNA, U6 small nuclear 234, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239330367-239331026 Neighboring gene uncharacterized LOC124908002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239334149-239334684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12498

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_168954.1 

    Range
    101..190
    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
    238346560..238346649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    238836349..238836438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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