Table 1 Functional enrichment analysis of pleiotropy score
| Â | Â | Â | \( {P}_m^{\mathrm{LD}} \) | \( {P}_n^{\mathrm{LD}} \) |
|---|---|---|---|---|
Variant effect predictor |  | UTR | + 0.24 (± 0.01); P = 1.72 × 10− 234 | + 0.69 (± 0.02); P = 2.16 × 10− 236 |
Coding synonymous | + 0.24 (± 0.01); P = 2.49 × 10− 99 | + 0.61 (± 0.03); P = 1.92 × 10− 76 | ||
Non-synonymous | + 0.19 (± 0.01); P = 3.82 × 10− 82 | + 0.48 (± 0.03); P = 3.62 × 10− 62 | ||
Roadmap Epigenomics |  | H327ac | + 0.20 (± 0.01); P < 10− 308 | + 0.54 (± 0.01); P < 10− 308 |
H3K27me3 | + 0.02 (± 0.01); P = 1.40 × 10− 18 | + 0.01 (± 0.01); P = 0.4 | ||
Active TSS | + 0.20 (± 0.02); P = 1.42 × 10− 36 | + 0.54 (± 0.04); P = 8.56 × 10− 34 | ||
Promoter | Promoter Upstream TSS | + 0.16 (± 0.01); P = 4.44 × 10− 130 | + 0.43 (± 0.02); P = 4.33 × 10− 103 | |
Promoter Downstream TSS 1 | + 0.35 (± 0.01); P = 1.87 × 10− 220 | + 0.92 (± 0.03); P = 3.59 × 10− 197 | ||
Promoter Downstream TSS 2 | + 0.30 (± 0.01); P = 2.70 × 10− 203 | + 0.86 (± 0.03); P = 3.44 × 10− 210 | ||
Transcription | Transcribed - 5′ preferential | + 0.29 (± 0.01); P < 10− 308 | + 0.88 (± 0.01); P < 10− 308 | |
Strong transcription | + 0.38 (± 0.01); P < 10− 308 | + 1.10 (± 0.01); P < 10− 308 | ||
Transcribed - 3′ preferential | + 0.29 (± 0.01); P < 10− 308 | + 0.82 (± 0.01); P < 10− 308 | ||
Weak transcription | + 0.21 (± 0.01); P < 10− 308 | + 0.60 (± 0.01); P < 10− 308 | ||
Transcription and regulation | Transcribed and regulatory (Prom/Enh) | + 0.36 (± 0.01); P < 10− 308 | + 1.00 (± 0.02); P < 10− 308 | |
Transcribed 5′ preferential and Enh | + 0.35 (± 0.01); P < 10− 308 | + 1.00 (± 0.01); P < 10− 308 | ||
Transcribed 3′ preferential and Enh | + 0.33 (± 0.01); P < 10− 308 | + 0.92 (± 0.02); P < 10− 308 | ||
Transcribed and Weak Enhancer | + 0.32 (± 0.01); P < 10− 308 | + 0.97 (± 0.01); P < 10− 308 | ||
Active enhancer | Active Enhancer 1 | + 0.13 (± 0.01); P = 4.54 × 10− 295 | + 0.32 (± 0.01); P = 5.1 × 10− 216 | |
Active Enhancer 2 | + 0.11 (± 0.01); P = 2.64 × 10− 294 | + 0.28 (± 0.01); P = 5.63 × 10− 238 | ||
Active Enhancer Flank | + 0.11 (± 0.01); P < 10− 308 | + 0.29 (± 0.01); P = 6.06 × 10− 270 | ||
Weak enhancer | Weak Enhancer 1 | + 0.07 (± 0.01); P = 2.79 × 10− 89 | + 0.16 (± 0.01); P = 6.89 × 10− 60 | |
Weak Enhancer 2 | + 0.08 (± 0.01); P < 10− 308 | + 0.23 (± 0.01); P = 6.52 × 10− 291 | ||
Primary H3K27ac possible Enhancer | + 0.09 (± 0.01); P = 2.72 × 10− 259 | + 0.24 (± 0.01); P = 1.53 × 10− 187 | ||
|  | Primary DNase | + 0.03 (± 0.01); P = 3.83 × 10− 21 | + 0.05 (± 0.01); P = 1.11 × 10− 7 | |
ZNF genes & repeats | + 0.08 (± 0.01); P = 1.29 × 10− 7 | + 0.20 (± 0.04); P = 6.9 × 10− 7 | ||
Heterochromatin | − 0. 20 (± 0.01); P < 10− 308 | − 0.61 (± 0.01); P < 10− 308 | ||
Poised Promoter | + 0.05 (± 0.01); P = 1.03 × 10− 35 | + 0.09 (± 0.01); P = 2.27 × 10− 16 | ||
Bivalent Promoter | + 0.17 (± 0.01); P = 1.28 × 10− 93 | + 0.51 (± 0.03); P = 6.29 × 10− 88 | ||
Repressed Polycomb | + 0.04 (± 0.01); P = 5.77 × 10− 42 | + 0.06 (± 0.01); P = 1.48 × 10− 11 | ||
Quiescent/Low | −0.41 (± 0.01); P < 10− 308 | −1.20 (± 0.01); P < 10− 308 | ||
GTEx - number of genes the variant is an eQTL for |  | eGenes< 10 | + 0.11 (± 0.01); P = 6.78 × 10− 186 | + 0.28 (± 0.01); P = 1.04 × 10− 140 |
eGenes> 10 & < 15 | + 0.19 (± 0.01); P = 4.72 × 10− 114 | + 0.52 (± 0.02); P = 6.84 × 10− 99 | ||
eGenes> 15 & < 20 | + 0.31 (± 0.02); P = 7.98 × 10− 52 | + 0.88 (± 0.06); P = 5.38 × 10− 47 | ||
eGenes> 20 | + 0.66 (± 0.06); P = 3.40 × 10− 27 | + 2.07 (± 0.18); P = 1.35 × 10− 30 | ||
GTEx - number of tissues the variant is an eQTL for |  | eTissue< 30 | + 0.10 (± 0.01); P = 1.84 × 10− 151 | + 0.26 (± 0.01); P = 1.26 × 10− 114 |
eTissue> 30 & < 35 | + 0.21 (± 0.01); P = 3.70 × 10− 187 | + 0.54 (± 0.02); P = 6.80 × 10− 147 | ||
eTissue> 35 & < 40 | + 0.36 (± 0.02); P = 1.11 × 10− 82 | + 1.13 (± 0.06); P = 4.24 × 10− 92 | ||
eTissue> 40 | + 0.35 (± 0.05); P = 2,42 × 10− 13 | + 0.97 (± 0.14); P = 7.08 × 10− 12 | ||
International Mouse Phenotyping Consortium |  | Phenotypes > 1 | + 0.06 (± 0.01); P = 1.91 × 10− 6 | + 0.19 (± 0.04); P = 2.70 × 10− 7 |
Saccharomyces cerevisiae Morphological Database |  | Phenotypes > 1 | + 0.09 (± 0.01); P = 4.48 × 10− 17 | + 0.26 (± 0.03); P = 1.53 × 10− 18 |