To identify enriched cell types for our COPD associations, we applied LD score regression to GenoSkyline71 lung tissue annotations (the default LD score regression annotations collapse lung into the cardiovascular tissue type), as well as cell-type specific annotations from LD score regression46. We also performed analysis using only the 22 genome-wide significant loci and tested for enrichment of imputed chromatin marks from ROADMAP using HaploReg 4.129. Further, we applied a more sophisticated analysis adjusting for local linkage disequilibrium patterns, GoShifter72. Finally, we examined overlap with gene expression datasets using SNPsea73.
