Table 4.
Enhancer enrichment analysis for 5 COPD eQTLs with strongest colocalization signal
| Cell type |
All enhancers |
Strongest enhancers |
|||||||
|---|---|---|---|---|---|---|---|---|---|
| ID | Description | Obs | Exp | Fold | P-value | Obs | Exp | Fold | P-value |
| CCCRA.NP | CD4+ CD25- CD45RA+ naive primary cells | 2 | 0.4 | 4.9 | 0.061 | 2 | 0.1 | 15.6 | 0.007 |
| CD4.MP | CD4 memory primary cells | 2 | 0.5 | 4.3 | 0.076 | 2 | 0.1 | 14.1 | 0.008 |
| R.MUC31 | Rectal Mucosa.Donor 31 | 2 | 0.4 | 5.2 | 0.054 | 2 | 0.2 | 12.1 | 0.011 |
| GM12878 | B-lymphocyte, lymphoblastoid | 2 | 0.5 | 3.8 | 0.096 | 2 | 0.2 | 10.4 | 0.015 |
| CD3.P | CD3 primary cells | 2 | 0.4 | 5.5 | 0.049 | 2 | 0.2 | 9.9 | 0.017 |
| CD4.NP | CD4 naive primary cells | 1 | 0.4 | 2.8 | 0.302 | 1 | 0 | 20.8 | 0.047 |
Enhancer enrichment analysis for five lead eQTL SNPs from COPD eQTLs with strongest colocalization signal (Table 2).
ID—ENCODE or Roadmap Epigenomic cell identification.
Obs, observed number of overlaps with enhancer regions; Exp, expected number of chance overlaps; Fold, fold enrichment over expected rate; P-value, calculated by binomial test compared with distance-matched (from transcription start site) controls (23).