Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies
Fig 2
Case studies of HBB gene complex, in vivo enhancers, and regulatory miRNAs.
(a) Comparison of GenoCanyon prediction and GenoSkyline scores for seven tissues in HBB gene complex region. Red boxes mark the locations of CRMs. The number of red boxes is less than 23 because some CRMs are next to each other. (b) Mean blood-specific GS score for different region categories. (c) Boxplot of mean GS scores for enhancers in CNS, heart, and blood vessel. (d) Boxplot of mean GS scores for 11 human-accelerated elements near NPAS3. (e) Boxplot of mean GS scores for tissue-specific regulatory miRNAs.