Table 2. MRE-SNPs from the filtered set of associations that overlap with validated miRNA-target interactions.
| MRE-SNP | Effect a | Allele | MAF b | Gene | MeanZ-score c | miRNA | Seed | Conservation d | AGO e | Context+change | miRSVR | miRandascore | Validation f | Ref | Type g |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs10187 | D | C/T | 0.06 | ISCU | 13.39 | miR-210-3p | 8mer | mammals | + | -0.55 | -1.10 | 154 | IM/EX/QP | [44] | C |
| LU/QP/WE | [45] | ||||||||||||||
| CL | [46] | ||||||||||||||
| rs4245739* | C | A/C | 0.32 | MDM4 | 18.27 | miR-191-5p | 7mer-m8 | no | - | -0.32 | -0.61 | 155 | LU | [47] | C |
| rs17765088 | D | C/G | 0.13 | CCR9 | 4.79 | miR-335-5p | 8mer | mammals | - | -0.29 | -0.33 | 153 | EX | [48] | U |
| rs3828609 | D | T/C | 0.15 | CSF1R | 17.91 | miR-155-5p | 8mer | mammals | - | -0.28 | -1.01 | 148 | EX | [49] | U |
| rs2239680* | D | T/C | 0.26 | BIRC5 | 8.62 | miR-335-5p | 7mer-m8 | no | + | -0.26 | -0.63 | 157 | LU | [50] | U |
| rs1048077 | D | G/A | 0.34 | ENPP4 | 12.00 | miR-103a-3p | 8mer | no | + | -0.19 | n.a. | 147 | SE | [51] | U |
| rs1056801 | D | T/C | 0.08 | SEPT2 | 3.88 | miR-20a-5p | 8mer | primates | + | -0.11 | -1.01 | 149 | CL | [46] | C |
| miR-17-5p | 8mer | primates | + | -0.10 | -1.02 | 146 | CL | [46] | C | ||||||
| rs8614 | D | C/A | 0.11 | NUFIP2 | 4.01 | miR-365a-3p | 8mer | vertebrates | + | -0.08 | -0.02 | 169 | CL | [46] | C |
| 15.20 | C | ||||||||||||||
| rs2241201 | D | C/G | 0.24 | MMAB | 4.40 | miR-335-5p | 7mer-m8 | no | - | -0.08 | -0.02 | 143 | EX | [48] | U |
| rs2341984 | C | C/T | 0.25 | SLC6A6 | 10.58 | miR-423-5p | 8mer | no | - | -0.07 | -0.01 | 156 | CL | [46] | U |
| rs2151511 | C | G/A | 0.48 | MTG2 | 7.66 | miR-769-5p | 7mer-m8 | mammals | - | -0.07 | -0.01 | 144 | CL | [46] | U |
| rs710100 | C | G/A | 0.39 | TNFAIP2 | 6.68 | miR-155-5p | 7mer-A1 | primates | - | 0.04 | -0.01 | 149 | PS | [52] | U |
| rs17759843 | C | G/A | 0.09 | PPM1F | 10.31 | miR-186-5p | 7mer-m8 | primates | - | 0.08 | n.a. | 152 | CL | [46] | U |
| rs4679372 | D | A/G | 0.29 | ZNF148 | 20.39 | miR-186-5p | 7mer-m8 | primates | - | 0.13 | n.a. | 156 | SE | [51] | C |
* SNP has been experimentally shown to influence MRE.
a SNP effect on miRNA binding: D disrupts an MRE and C creates an MRE.
b MAF is based on 1000G pilot 1 CEU population.
c Z-scores from a recent eQTL meta-analysis [21] are averaged for LD block (R2 = 1, 1000G pilot 1, CEU); FDR < 0.05 for all associations.
d Conservation shows in which species a corresponding MRE is present (polymiRTS v3.0 database).
e Supported by AGO-CLIP data.
f Validation method: LU- luciferase reporter assay; IM- immunoprecipitation; EX- target expression profiling; CL- CLASH; QP- qRT-PCR; SE- sequencing; PS- pSiLAC; and WE- Western blot.
g Association type: C-concordant; U-unconcordant.