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LOC128772246 melanoma risk locus-associated MPRA allelic enhancer 2:25596509 [ Homo sapiens (human) ]

Gene ID: 128772246, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128772246
Gene description
melanoma risk locus-associated MPRA allelic enhancer 2:25596509
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, rs732076, that is in strong linkage disequilibrium with a melanoma risk locus identified at 2p23.3 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, where differences in transcriptional activity were observed between the reference and alternative rs732076 alleles. [provided by RefSeq, Mar 2023]
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Genomic context

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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (25373568..25373712)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (25408897..25409041)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25439263-25439780 Neighboring gene long intergenic non-protein coding RNA 1381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25452372-25453102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25469436-25469945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25470965-25471472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25476274-25476808 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25482555-25483258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25486869-25487452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25487453-25488037 Neighboring gene DNA methyltransferase 3 alpha Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25492834-25493424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25495919-25496419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25499151-25499742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25500333-25500922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25500923-25501512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15446 Neighboring gene Sharpr-MPRA regulatory region 14395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25519631-25520132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25528466-25528966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25528967-25529467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25531317-25531818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25531819-25532318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25535893-25536656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25536657-25537420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25544961-25545788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25552894-25553394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25553395-25553895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25557143-25557814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25578935-25579435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25581309-25581844 Neighboring gene microRNA 1301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15456 Neighboring gene dystrobrevin beta Neighboring gene uncharacterized LOC124900608 Neighboring gene DTNB antisense RNA 1

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. 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_149737.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    25373568..25373712
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    25408897..25409041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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