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LOC128772349 melanoma risk locus-associated MPRA allelic enhancer 11:69367118 [ Homo sapiens (human) ]

Gene ID: 128772349, updated on 12-Sep-2024

Summary

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Gene symbol
LOC128772349
Gene description
melanoma risk locus-associated MPRA allelic enhancer 11:69367118
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, rs498136, that is in strong linkage disequilibrium with a melanoma risk locus identified at 11q13.3 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 rs498136 alleles. [provided by RefSeq, Mar 2023]
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Genomic context

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See LOC128772349 in Genome Data Viewer
Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (69552278..69552422)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (69569689..69569833)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69367046..69367190)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:69290349-69291033 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:69291034-69291718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69291719-69292403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69295265-69296231 Neighboring gene long intergenic non-protein coding RNA 2747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69299754-69300291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69300292-69300830 Neighboring gene long intergenic non-protein coding RNA 1488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69304402-69305070 Neighboring gene VISTA enhancer hs1920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69314370-69314904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69316310-69316810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69324803-69325431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69325432-69326060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69328322-69328822 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69335476-69336233 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69336234-69336990 Neighboring gene MPRA-validated peak1326 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69350505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69351691-69352192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69352193-69352692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69353440-69354100 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69354185 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69370584 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69371642 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69375393 Neighboring gene Sharpr-MPRA regulatory region 10534 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69388143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69390821-69391383 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:69407786-69408985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69415650-69416150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69416151-69416651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69430076-69430934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69452808-69453748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:69453749-69454687 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:69456195-69456897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69458416-69459160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69462137-69462880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69463625-69464368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69469698-69470635 Neighboring gene uncharacterized LOC124902704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69472515-69473242 Neighboring gene cyclin D1

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

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_149840.1 

    Range
    101..245
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    69552278..69552422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    69569689..69569833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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