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LOC129995958 ATAC-STARR-seq lymphoblastoid active region 24137 [ Homo sapiens (human) ]

Gene ID: 129995958, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129995958
Gene description
ATAC-STARR-seq lymphoblastoid active region 24137
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 LOC129995958 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (21264118..21264177)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (21136246..21136305)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (21264349..21264408)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CDK5 regulatory subunit associated protein 1 like 1 Neighboring gene uncharacterized LOC105374966 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:21150224 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:21163919 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 6:21164131 and 6:21164145 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:21166705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24135 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:21186041-21186767 Neighboring gene NANOG hESC enhancer GRCh37_chr6:21223372-21223889 Neighboring gene uncharacterized LOC107986578 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:21230452-21231651 Neighboring gene Sharpr-MPRA regulatory region 5810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:21263602-21264102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:21275814-21276318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:21276319-21276823 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:21327213-21328056 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:21361231-21362046 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:21362047-21362861 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:21367138-21367689 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:21367690-21368242 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:21368243-21368793 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:21393485-21394340 Neighboring gene MPRA-validated peak5728 silencer Neighboring gene uncharacterized LOC107986579 Neighboring gene long intergenic non-protein coding RNA 581

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_175404.1 

    Range
    101..160
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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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    21264118..21264177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    21136246..21136305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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