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LOC110121154 VISTA enhancers hs1597 and hs1717 [ Homo sapiens (human) ]

Gene ID: 110121154, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121154
Gene description
VISTA enhancers hs1597 and hs1717
Gene type
biological region
Feature type(s)
misc_feature: sequence_alteration
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 locus represents two conserved genomic elements that can function as enhancers. They can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic forebrain of transgenic mice. These enhancers overlap a genetic variant, rs80260796, that may be associated with COVID-19 susceptibility. [provided by RefSeq, Dec 2022]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
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Genomic context

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See LOC110121154 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (97873936..97878227)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110045873..110050164)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100636218..100640509)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100465986-100467185 Neighboring gene keratin 18 pseudogene 13 Neighboring gene papillary thyroid carcinoma susceptibility candidate 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28678 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100520047-100521246 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:100534165-100534666 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:100534667-100535166 Neighboring gene VISTA enhancer hs1595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20103 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100571176-100572375 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100589760-100589981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100613975-100614476 Neighboring gene VISTA enhancer hs1596 Neighboring gene forkhead box E1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28679 Neighboring gene tRNA methyltransferase O Neighboring gene hemogen

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. A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors. Thibord F, et al. HGG Adv, 2022 Apr 14. PMID 35224516, Free PMC Article
  2. VISTA Enhancer Browser--a database of tissue-specific human enhancers. Visel A, et al. Nucleic Acids Res, 2007 Jan. PMID 17130149, 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)

General gene information

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Other Names

  • VISTA enhancer hs1597
  • VISTA enhancer hs1717

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_053772.1 

    Range
    101..4392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    97873936..97878227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    110045873..110050164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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