To determine whether our observations are dependent on the p value threshold used to define an eQTL, we explored evidence of eQTL enrichment among the tCNVs (r2≥0.80) at p<10−6. Simulations yielded an expected eQTL count of 19.7 (SD = 4.5) whereas observed count is 28, yielding a statistically significant enrichment (p = 0.036). Expected cis-acting eQTL count is 1.9 (SD = 1.4) while observed count is 8. These findings demonstrate that the observed enrichment holds robustly at lower expression thresholds. There are 2.5 times as many trans eQTLs as cis eQTLs among the tCNVs at this threshold.
