matching minor allele frequency distribution as the SNPs tagging CNVs (see Materials and Methods). These SNPs tagging CNVs are significantly more likely to be associated with altered expression of genes in their vicinity than frequency-matched SNPs (see Figure 1). Specifically, 24 such SNPs tagging CNVs are acting in cis, whereas the expected count is 10.7 (SD = 3.2). On the other hand, the observed count of trans-acting eQTLs is 508 while expected count is 488.9 (SD = 17.6).
