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LOC130007575 ATAC-STARR-seq lymphoblastoid active region 6123 [ Homo sapiens (human) ]

Gene ID: 130007575, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130007575
Gene description
ATAC-STARR-seq lymphoblastoid active region 6123
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 LOC130007575 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26340610..26340659)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26213156..26213205)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26493543..26493592)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369705 Neighboring gene uncharacterized LOC105369704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6122 Neighboring gene uncharacterized LOC107984482 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:26512284-26513483 Neighboring gene inositol 1,4,5-trisphosphate receptor type 2 Neighboring gene RNA, 5S ribosomal pseudogene 354 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:26662897-26663668 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26952 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26967 Neighboring gene NANOG hESC enhancer GRCh37_chr12:26726101-26726602 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26796645-26797336 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:26800684-26801883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6125 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:26881161-26881390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:26896687-26897188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6127 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26937397-26938110 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:26939539-26940250 Neighboring gene uncharacterized LOC124902903

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_188200.1 

    Range
    101..150
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    26340610..26340659
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    26213156..26213205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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