Table 5.

Enhancer Enrichment among Top GWAS Signals for Panlobular LHE Pattern

Source	Cell Line ID	Cell Line Description	All Enhancers			Strongest Enhancers
			Observed	Expected	P Value	Observed	Expected	P Value
ENCODE	NHLF	Lung fibroblasts	25	10.8	8.9 × 10−5	17	4.1	1.0 × 10−6
Roadmap	ADI.NUC	Adipose nuclei	25	13.4	2.1 × 10−3	19	6.4	2.6 × 10−5
	ADI.MSC	Adipose-derived mesenchymal stem cell cultured cells	41	17.4	<1 × 10−6	19	7	9.0 × 10−5
	LNG.FE	Fetal lung	29	11	2.0 × 10−6	12	3.3	1.5 × 10−4
	IMR90	IMR90 cell line	25	13.1	1.5 × 10−3	16	7	2.0 × 10−3

Definition of abbreviations: GWAS = genome-wide association studies; LHE = local histogram-based emphysema; SNP = single-nucleotide polymorphism.

Cell lines with enrichment P values for all enhancer and strong enhancer less than 0.005 considering all SNPs associated with the Panlobular emphysema pattern and P less than 5 × 10⁻⁶.

All enhancers: enrichment measures calculated for all chromosome segmentation states associated with enhancer activity.

Strongest enhancers: enrichment measures calculated only for those chromosome segmentation states annotated as strong enhancers.

P value from binomial test comparing the observed count of GWAS SNP-enhancer overlap to the expected count derived from all SNPs in 1,000 Genomes pilot phase.