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LOC130057483 ATAC-STARR-seq lymphoblastoid active region 9728 [ Homo sapiens (human) ]

Gene ID: 130057483, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130057483
Gene description
ATAC-STARR-seq lymphoblastoid active region 9728
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 LOC130057483 in Genome Data Viewer
Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72783134..72783203)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70600444..70600513)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (73075475..73075544)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 2B Neighboring gene MPRA-validated peak2381 silencer Neighboring gene Bardet-Biedl syndrome 4 Neighboring gene ADP dependent glucokinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9730 Neighboring gene ADPGK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:73099527-73100423 Neighboring gene NANOG hESC enhancer GRCh37_chr15:73113063-73113588 Neighboring gene uncharacterized LOC107984801 Neighboring gene NANOG hESC enhancer GRCh37_chr15:73127371-73127872 Neighboring gene nucleophosmin 1 pseudogene 42

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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_191904.1 

    Range
    101..170
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    72783134..72783203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    70600444..70600513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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