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LOC130062294 ATAC-STARR-seq lymphoblastoid active region 13166 [ Homo sapiens (human) ]

Gene ID: 130062294, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130062294
Gene description
ATAC-STARR-seq lymphoblastoid active region 13166
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 LOC130062294 in Genome Data Viewer
Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23981723..23981832)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (24175987..24176096)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21561687..21561796)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:21268776-21269325 Neighboring gene ribosomal protein S10 pseudogene 27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21299932-21300432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21300433-21300933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:21305921-21306891 Neighboring gene ribosomal protein L23a pseudogene 77 Neighboring gene laminin subunit alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:21427116-21427961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13165 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:21531393-21532253 Neighboring gene MPRA-validated peak3071 silencer Neighboring gene long intergenic non-protein coding RNA 2958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9361 Neighboring gene TTC39C antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13169 Neighboring gene tetratricopeptide repeat domain 39C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13170 Neighboring gene Sharpr-MPRA regulatory region 15364 Neighboring gene RNA, U5A small nuclear 6, pseudogene

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_195186.1 

    Range
    101..210
    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    23981723..23981832
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    24175987..24176096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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