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LOC128772341 melanoma risk locus-associated MPRA allelic enhancer 10:105668179 [ Homo sapiens (human) ]

Gene ID: 128772341, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128772341
Gene description
melanoma risk locus-associated MPRA allelic enhancer 10:105668179
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 includes a genetic variant, rs35176048, that is in strong linkage disequilibrium with a melanoma risk locus identified at 10q24.33 in genome-wide association studies (GWASs), and for which the reference allele has a risk effect. This region was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in C283T melanocytes and UACC903 melanoma cells, where differences in transcriptional activity were observed between the reference and alternative rs35176048 alleles. [provided by RefSeq, Mar 2023]
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Genomic context

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Location:
chromosome: 10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103908349..103908493)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104795592..104795738)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene SH3 and PX domains 2A Neighboring gene uncharacterized LOC124902495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105441739-105442519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105451952-105452918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105455468-105456214 Neighboring gene NFE2L2 motif-containing MPRA enhancer 292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105467435-105468414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105468415-105469393 Neighboring gene NANOG hESC enhancer GRCh37_chr10:105482339-105482840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105491951-105492499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105492500-105493047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105505582-105506103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105506520-105507020 Neighboring gene SH3PXD2A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105507021-105507521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105515685-105516342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105516343-105516998 Neighboring gene Sharpr-MPRA regulatory region 10495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105531100-105532070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105539219-105539718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105544793-105545294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105549545-105550545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105560029-105560530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105563531-105564374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105567495-105567996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105594413-105594969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105594970-105595525 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105667461-105668062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105677593-105678238 Neighboring gene STN1 subunit of CST complex Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105686883-105687548 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105688215-105688880 Neighboring gene uncharacterized LOC102724351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105730769-105731270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105731271-105731770 Neighboring gene RNA, 7SL, cytoplasmic 524, pseudogene Neighboring gene STE20 like kinase

Genomic regions, transcripts, and products

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Bibliography

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Related articles in PubMed

  1. Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity. Long E, et al. Am J Hum Genet, 2022 Dec 1. PMID 36423637, Free PMC Article
  2. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Landi MT, et al. Nat Genet, 2020 May. PMID 32341527, 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

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_149832.1 

    Range
    101..245
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    103908349..103908493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    104795592..104795738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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