We identified 621 SNPs tagging CNVs corresponding to 626 tCNVs that are perfectly tagged (r2 = 1.0). Of these 621, 185 predict the expression of at least one transcript, whereas, based on simulations, the expected count is 166.5 (SD = 9.9). This observation implies a statistically significant (p = 0.024) enrichment for eQTLs among this class of CNVs. Restricting our focus to eQTLs that regulate transcript levels locally, we observed 10 such cis-acting tCNVs. This observed count is, as before, a significant enrichment (p<0.001) for cis-acting regulators compared with expected count (see Materials and Methods) of 3.5 (SD = 1.9) (see Figure S1).
