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LOC130064857 ATAC-STARR-seq lymphoblastoid active region 14894 [ Homo sapiens (human) ]

Gene ID: 130064857, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130064857
Gene description
ATAC-STARR-seq lymphoblastoid active region 14894
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 LOC130064857 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48419484..48419723)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51413630..51413868)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48922741..48922980)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876382-48876882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876883-48877383 Neighboring gene synaptogyrin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10878 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48899313-48899496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10880 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48903941-48904482 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2D Neighboring gene Sharpr-MPRA regulatory region 12315 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48917645-48918366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48921924-48922690 Neighboring gene Sharpr-MPRA regulatory region 8588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48947127-48947818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14896 Neighboring gene glutamate rich WD repeat containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48964846-48965804 Neighboring gene potassium inwardly rectifying channel subfamily J member 14 Neighboring gene uncharacterized LOC105372430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48971727-48972227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48972285-48973278 Neighboring gene cytohesin 2

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_199274.1 

    Range
    101..340
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    48419484..48419723
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51413630..51413868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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