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LOC130067193 ATAC-STARR-seq lymphoblastoid active region 18827 [ Homo sapiens (human) ]

Gene ID: 130067193, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130067193
Gene description
ATAC-STARR-seq lymphoblastoid active region 18827
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 LOC130067193 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30196366..30196485)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30659689..30659808)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30592355..30592474)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene HORMA domain containing 2 Neighboring gene ribosomal protein L36 pseudogene 17 Neighboring gene RPS3A pseudogene 51 Neighboring gene uncharacterized LOC105372988 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30601719-30602918 Neighboring gene Sharpr-MPRA regulatory region 10236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30610529-30611063 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30617260-30617890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30618871-30619372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30619373-30619872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30622687-30623483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30624775-30625710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30627593-30628226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30631328-30631830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30637625-30638293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30640698-30641198 Neighboring gene LIF antisense RNA 1 Neighboring gene LIF antisense RNA 2 Neighboring gene LIF interleukin 6 family cytokine

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_201608.1 

    Range
    101..220
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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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    30196366..30196485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    30659689..30659808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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