Table 4.
Enhancer enrichment analysis of loci in PKD2
| Set | Cell type | All enhancers | Strongest enhancers | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| ID | Description | Obs | Exp | Fold | P | Obs | Exp | Fold | P | |
| 1 | Huvec | umbilical vein endothelial cells | 5 | 1.4 | 3.6 | 0.012 | 4 | 0.7 | 5.7 | 0.005 |
| 2 | H1 | H1 cell line | 4 | 10.5 | 0.4 | 0.994 | 4 | 0.9 | 4.5 | 0.013 |
| HepG2 | hepatocelluar carcinoma | 24 | 9.3 | 2.6 | 2.50E-05 | 24 | 3.1 | 7.8 | < 1.0E-06 | |
| Huvec | umbilical vein endothelial cells | 41 | 11.4 | 3.6 | < 1.0E-06 | 29 | 5.7 | 5.1 | < 1.0E-06 | |
| HSMM | skeletal muscle myoblasts | 30 | 12.9 | 2.3 | 1.80E-05 | 4 | 5.7 | 0.7 | 0.818 | |
| NHLF | lung fibrolasts | 43 | 11.6 | 3.7 | < 1.0E-06 | 15 | 4.4 | 3.4 | 4.20E-05 | |
| HMEC | mammary epithelial cells | 36 | 15 | 2.4 | 1.00E-06 | 10 | 5.7 | 1.7 | 0.065 | |
| GM12878 | B-lymohocyte, lymphoblastoid | 20 | 11.8 | 1.7 | 0.016 | 13 | 4.3 | 3 | 4.36E-04 | |
| NHEK | epidermal keratinocytes | 30 | 13 | 2.3 | 2.00E-05 | 17 | 5.7 | 3 | 7.40E-05 | |
Set one was urate-related SNPs identified in a recent genome-wide association study. Set two was all SNPs in the gene region of PKD2