genetic association studies that condition on the regulatory DNA of a known or hypothesized target tissue type. Further, selective enrichment of many more weakly-associated variants within regulatory DNA of pathogenic cell types points to the quantitative contribution of hundreds of variants of small effect size that modulate transcription factor binding characteristics, in contrast to Mendelian variants in transcription factor genes that may perturb entire networks. The results thus highlight a continuous quantitative spectrum of disordered gene regulation between common disease and Mendelian traits, and lend a new perspective on the genetic architecture of common human disease (35).
