The 17q21.31 inversion has previously been associated with lung function. Custom imputation of additional structural variation at the locus, along with eQTL evidence and deleterious variants in the gene, suggested that KANSL1 may drive the association. Amongst the novel signals reported in this study, SNPs in an intron of EEFSEC on chromosome 3 are correlated with expression of nearby gene RUVBL1. Both KANSL1 and RUVBL1 encode members of histone modification complexes.
