Table 2.

Number of Cell Types with Overlaps between Emphysema Distribution–associated Genome-Wide Association Study Variants with Expression Quantitative Trait Loci in Lung, Blood, and Lymphoblastoid Cell Lines and Each or Any One of DNase I–Hypersensitive Sites, DNase Hotspots, Enhancer Regions, and DNase I Footprints

Lead GWAS SNP	DHS	Hotspots	Enhancer Regions	DNase I Footprints	Any Annotation
rs5758407	125	39	126	42	169
rs7962469	62	11	0	0	63
rs4468504	27	9	28	13	43
rs210611	1	0	2	0	3

Definition of abbreviations: DHS = DNase I hypersensitive site; eQTL = expression quantitative trait loci; GWAS = genome-wide association study.

Emphysema distribution–associated GWAS eQTL loci in lung, blood, and lymphoblastoid cell lines are loci with SNPs that have emphysema distribution–associated GWAS P values less than 5 × 10⁻⁵ and cis-eQTL colocalization probability less than or equal to 0.8 in lung, blood, and lymphoblastoid cell lines. Loci are defined by the regions bounded by common SNPs in linkage disequilibrium with the lead SNP at r² > 0.8. Lead SNPs are SNPs with the lowest GWAS P values for association in a given GWAS-identified region.