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
RAD21 1411211612
RAD21-AS1 9720117
SMC1A 13811149
SMC3 9420114
STAG1 52317358
STAG2 920092
Cohesin (Meiosis-only)
RAD21L1 222143
REC8 15610166
SMC1B 9742139
STAG3 2823513324
Subtotal11372501316284
Cohesin-support
MAU2 191117133523
NIPBL 5070120
PDS5A 13762199
PDS5B 1461983213
WAPL 11851169
 CTCF
CTCF 12220142
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.