Table 1

Number of variants in the eQTL-attributed and GWAS-attributed lists

eQTL-attributed variantseQTL-attributed variants, confirmed by CoDeS3DGWAS-attributed variantsGWAS-attributed variants, confirmed by CoDeS3DBoth analyses combined, InputBoth analyses, SNP-cohesin confirmed by CoDeS3D
Core cohesin genes
RAD211411211612
RAD21-AS19720117
SMC1A13811149
SMC39420114
STAG152317358
STAG2920092
Cohesin (Meiosis-only)
RAD21L1222143
REC815610166
SMC1B9742139
STAG32823513324
Subtotal11372501316284
Cohesin-support
MAU2191117133523
NIPBL5070120
PDS5A13762199
PDS5B1461983213
WAPL11851169
 CTCF
CTCF12220142
Subtotal7434562412856
Total18710610637290140
  • The eQTL-attributed variant list consists of 187 variants, but after filtering results in 106 variants with significant spatial eQTLs. The GWAS-attributed variant list consists of 106 variants, but after filtering results in 37 variants with significant spatial eQTLs. Overall, the 290 attributed variants results in 140 variants with significant spatial eQTLs.

  • Red numbers indicate each one of the three overlapping SNPs (GWAS-attributed and eQTL-attributed).

  • eQTL, expression quantitative trail locus; GWAS, genome-wide association studies.