Parameter | Normal ASMa (N = 13,069) OR (p value) | Cancer ASMb (N = 4361) OR (p value) | Same direction in cancer vs normal ASM? | Enrichment strength in cancer vs. normal OR (p value) |
---|---|---|---|---|
ASM SNP is an ASB SNP | 14.5 (< 1 × 10−999) | 5 (3.1 × 10−32) | Yes: enriched | 0.3 (2.8 × 10− 13) |
Poised promoter | 5.1 (< 1 × 10− 999) | 5.6 (< 1 × 10− 999) | Yes: enriched | 1.1 (0.069) |
Polymorphic TFBS motifc | 4.9 (2 × 10− 184) | 2 (3.7 × 10− 34) | Yes: enriched | 0.4 (6.4 × 10−28) |
Weak promoter | 4.4 (< 1 × 10− 999) | 3.5 (3 × 10− 290) | Yes: enriched | 0.8 (5.9 × 10−10) |
Active promoter | 4.1 (< 1 × 10− 999) | 3.9 (2 × 10− 238) | Yes: enriched | 1 (0.44) |
Correlated polymorphic TF binding motifc | 3.7 (< 1 × 10−999) | 0.8 (0.3 × 10−4) | NO | 0.2 (3 × 10− 106) |
Weak/poised enhancer | 2.7 (< 1 × 10−999) | 1.5 (8.9 × 10− 45) | Yes: enriched | 0.6 (1.4 × 10− 58) |
Repetitive sequences | 2.2 (3.8 × 10− 76) | 1.9 (9.6 × 10− 16) | Yes: enriched | 0.9 (0.083) |
ASM SNP is eqtl SNP | 2.2 (1.2 × 10−92) | 1.9 (4.7 × 10−21) | Yes: enriched | 0.9 (0.11) |
Strong enhancer | 2.2 (< 1 × 10−999) | 1.3 (1.1 × 10−14) | Yes: enriched | 0.6 (6.1 × 10−34) |
ASM SNP is GWAS peak SNP | 2 (2.2 × 10−32) | 2 (9.1 × 10−12) | Yes: enriched | 1 (0.97) |
Insulator element | 2 (5 × 10−214) | 1.5 (9 × 10−19) | Yes: enriched | 0.7 (5.11 × 10−11) |
Polycomb repressed | 2 (< 1 × 10−999) | 1.9 (2 × 10−103) | Yes: enriched | 1 (0.22) |
ASM SNP in stringent block with GWAS peak SNP (autoimmune/inflammatory) | 1.5 (1.7 × 10−17) | 1.3 (0.0043) | Yes: enriched | 0.9 (0.13) |
ASM SNP in stringent block with GWAS peak SNP (cancers) | 1.5 (3.8−15) | 1.6 (9.5 × 10−9) | Yes: enriched | 1.1 (0.39) |
ASM SNP is GWAS peak or LD Rsq > =0.8 | 1.5 (3.7 × 10−40) | 1.4 (2.1 × 10−9) | Yes: enriched | 0.9 (0.2) |
Active transcriptional state (txn) | 1.3 (9.1 × 10−47) | 1 (0.18) | No | 0.7 (1.1 × 10−17) |
ASM SNP in stringent block with GWAS peak SNP (all diseases/phenotype) | 1.2 (1.7 × 10−13) | 1.1 (0.0019) | Weak | 1 (0.34) |
Quiescent chromatind | 0.3 (3 × 10− 274) | 0.6 (9.5 × 10−35) | Yes: depleted | 1.9 (2.1 × 10−30) |
Chromatin deserte | 0.2 (< 1 × 10−999) | 0.5 (3.3 × 10−82) | Yes: depleted | 3.1 (4 × 10−124) |