Table 2.
eQTL Effect of the Lead SNPs in Brain and Whole-Blood Tissues
| Lead SNP Gene | Lead SNP | eQTL SNP | eQTL SNP Gene | r2 | Tissue | Ref | Alt | Ensebl Gene ID | Minor Allele Samples | Minor Allele Count | MAF | p Value | Slope | Slope SE |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATXN3 | rs10143310 | rs2896190 | TRIP11 | 1.00 | brain cerebellar hemisphere | A | G | ENSG00000100815.12 | 78 | 90 | 0.26 | 6.8 × 10−7 | 0.24 | 0.05 |
| ATXN3 | rs10143310 | rs2896190 | TRIP11 | 1.00 | brain cerebellum | A | G | ENSG00000100815.12 | 89 | 104 | 0.25 | 2.5 × 10−8 | 0.29 | 0.05 |
| ATXN3 | rs10143310 | rs7142326 | ATNX3 | 0.56 | whole blood | T | C | ENSG00000066427.21 | 433 | 557 | 0.42 | 3.2 × 10−7 | 0.13 | 0.02 |
| ATXN3 | rs10143310 | rs76497846 | TRIP11 | 0.62 | whole blood | G | A | ENSG00000100815.12 | 407 | 516 | 0.39 | 3.0 × 10−5 | 0.09 | 0.02 |
| ATXN3 | rs10143310 | rs12587248 | NDUFB1 | 0.62 | whole blood | T | C | ENSG00000183648.9 | 356 | 423 | 0.32 | 2.5 × 10−8 | 0.10 | 0.02 |
| B4GALNT1 | rs12320537 | rs2258877 | B4GALNT1 | 0.88 | brain cerebellar hemisphere | A | G | ENSG00000135454.13 | 79 | 92 | 0.26 | 1.7 × 10−7 | 0.24 | 0.04 |
| B4GALNT1 | rs12320537 | rs2258877 | B4GALNT1 | 0.88 | brain cerebellum | A | G | ENSG00000135454.13 | 95 | 106 | 0.25 | 1.8 × 10−5 | 0.18 | 0.04 |
| B4GALNT1 | rs12320537 | rs12322482 | ATP23 | 0.99 | whole blood | G | A | ENSG00000166896.7 | 245 | 272 | 0.20 | 1.4 × 10−10 | −0.29 | 0.04 |
| SCFD1 | rs229247 | rs7154847 | SCFD1 | 0.89 | Brain anterior cingulate cortex BA24 | G | A | ENSG00000092108.20 | 82 | 101 | 0.34 | 3.3 × 10−7 | 0.33 | 0.06 |
| SCFD1 | rs229247 | rs229231 | SCFD1 | 0.99 | brain cerebellar hemisphere | G | A | ENSG00000092108.20 | 107 | 143 | 0.41 | 3.1 × 10−16 | 0.33 | 0.03 |
| SCFD1 | rs229247 | rs229152 | SCFD1 | 0.94 | brain cerebellum | T | C | ENSG00000092108.20 | 126 | 164 | 0.39 | 2.2 × 10−24 | 0.37 | 0.03 |
| SCFD1 | rs229247 | rs229173 | SCFD1 | 0.95 | brain cortex | T | C | ENSG00000092108.20 | 123 | 159 | 0.39 | 2.1 × 10−7 | 0.23 | 0.04 |
| SCFD1 | rs229247 | rs10130830 | SCFD1 | 0.91 | brain frontal cortex BA9 | A | G | ENSG00000092108.20 | 113 | 146 | 0.42 | 1.4 × 10−8 | 0.27 | 0.05 |
| SCFD1 | rs229247 | rs448175 | SCFD1 | 1.00 | whole blood | G | T | ENSG00000092108.20 | 415 | 536 | 0.40 | 1.9 × 10−56 | −0.28 | 0.02 |
| ACSL5 | rs58854276 | rs2419629 | ZDHHC6 | 0.90 | brain cerebellum | A | G | ENSG00000023041.11 | 113 | 144 | 0.34 | 2.1 × 10−7 | 0.28 | 0.05 |
| ACSL5 | rs58854276 | rs72821869 | ZDHHC6 | 0.84 | brain cortex | C | T | ENSG00000023041.11 | 121 | 152 | 0.37 | 7.6 × 10−6 | 0.29 | 0.06 |
| ACSL5 | rs58854276 | rs12414780 | ZDHHC6 | 0.83 | brain frontal cortex BA9 | C | G | ENSG00000023041.11 | 100 | 123 | 0.36 | 3.2 × 10−7 | 0.41 | 0.08 |
| ACSL5 | rs58854276 | rs2419629 | ZDHHC6 | 0.90 | brain nucleus accumbens basal ganglia | A | G | ENSG00000023041.11 | 120 | 151 | 0.37 | 1.9 × 10−8 | 0.40 | 0.07 |
| ACSL5 | rs58854276 | rs12414780 | ZDHHC6 | 0.83 | brain putamen basal ganglia | C | G | ENSG00000023041.11 | 101 | 129 | 0.38 | 1.3 × 10−5 | 0.34 | 0.08 |
| ACSL5 | rs58854276 | rs72821869 | ACSL5 | 0.84 | whole blood | C | T | ENSG00000197142.10 | 356 | 446 | 0.33 | 3.2 × 10−48 | −0.38 | 0.02 |
For each lead SNP, we reported the most significant eQTLs from GTEx in LD (r2 > 0.5) with the lead SNP. For each eQTL, we reported the the r2 with the corresponding lead SNP, the tissue in which the effect was observed, the corresponding regulated gene, the number of samples carrying the minor allele, the total number of minor alleles, the minor allele frequency, the p value, and regression slope and its standard error. The data are from GTEx version 8.