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LOC130007611 ATAC-STARR-seq lymphoblastoid active region 6153 [ Homo sapiens (human) ]

Gene ID: 130007611, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130007611
Gene description
ATAC-STARR-seq lymphoblastoid active region 6153
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 LOC130007611 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 (27901275..27901324)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27773001..27773050)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28054208..28054257)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27159 Neighboring gene uncharacterized LOC105369709 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27974511-27975710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6152 Neighboring gene RN7SK pseudogene 15 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27196 Neighboring gene MPRA-validated peak1633 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:28058285-28059082 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:28059083-28059881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28121815-28122325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28122326-28122835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128050-28128738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128739-28129427 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27213 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27218 Neighboring gene parathyroid hormone like hormone Neighboring gene MPRA-validated peak1634 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28175972-28177171 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:28180270-28180494 Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462

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_188235.1 

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

    Range
    27901275..27901324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    27773001..27773050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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