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Table 6 Putatively functional variants that correlate with our most significantly associated SNP, rs7538876, with an r2> 0.9

From: Melanoma risk loci as determinants of melanoma recurrence and survival

SNP Position r2 Variant class Gene Putative function
rs7538876 1:17594950 - intronic PADI6 -
rs12132197 1:17596551 1 intronic PADI6 TFBS (STAT1, STAT2)
rs12132237 1:17596699 1 intronic PADI6 DNase I hypersensitivity cluster
      TFBS (STAT1, STAT2)
rs7545115 1:17596918 1 intronic PADI6 TFBS (STAT1, STAT2)
rs12134662 1:17597354 1 intronic PADI6 TFBS (STAT1)
rs4920603 1:17599966 1 intronic PADI6 DNase I hypersensitivity cluster
rs2526828 1:17602490 1 intergenic - DNase I hypersensitivity cluster
rs942457 1:17612173 1 exonic RCC2 Synonymous
      TFBS (INI1)
rs1324367 1:17625038 0.903 intronic RCC2 TFBS (HEY1)
rs11577822 1:17627195 0.935 intronic RCC2 DNase I hypersensitivity cluster
      TFBS (HEY1)
rs1408420 1:17627402 0.935 intronic RCC2 DNase I hypersensitivity cluster
      TFBS (HEY1)
rs4920607 1:17632685 0.935 intronic RCC2 H3K4me1 mark
      TFBS (HEY1)
rs6586542 1:17636153 0.935 intronic RCC2 H3K4me1 mark
      DNase I hypersensitivity cluster
rs6675912 1:17641877 0.903 intergenic - H3K4me1 mark
  1. ENCODE database was used to establish transcription factor binding sites (TFBS), DNase I hypersensitivity clusters, and H3K4me1 chromatin marks. Variant annotation was performed using ANNOVAR.