Table 1.
Primary information for sixteen Genotyped SNPs
| Genotyped SNPs | Chra | Regulome DB Scoreb | Location | TFBSc | Functional Consequence | MAFd for Chinese in database | MAF in our controls (n = 826) | P-value for HWEe test in our controls | Genotyping value (%) |
|---|---|---|---|---|---|---|---|---|---|
| CASP8: rs1035142 G>T | 2 | No data | 3’-Flanking | - | downstream variant 500 B | 0.279 | 0.283 | 0.612 | 97.3 |
| CASP7: rs3127075 G>C | 10 | No data | Intron2 | - | intron variant | 0.140 | 0.180 | 0.946 | 98.9 |
| CASP7: rs7907519 C>A | 10 | 4 | 5’-UTR_intron1 | - | intron variant | 0.289 | 0.278 | 0.977 | 99.5 |
| FAS: rs2234767 G>A | 10 | 4 | 5’-Flanking | Y | upstream variant 2 KB | 0.358 | 0.335 | 0.977 | 98.7 |
| FASL/FASLG: rs763110 C>T | 1 | 2a | 5’-Flanking | Y | upstream variant 2 KB | 0.298 | 0.255 | 0.245 | 99.3 |
| TP53BP1: rs560191 G>C | 15 | 1f | nonsynon_exon9 | - | missense | 0.444 | 0.431 | 0.003 | 97.7 |
| BCL2: rs17757541 C>G | 18 | 6 | Intron3 | - | intron variant | 0.134 | 0.149 | 0.583 | 99.3 |
| BCL2: rs12454712 T>C | 18 | 2b | Intron3 | - | intron variant | 0.477 | 0.460 | 0.378 | 99.4 |
| ERBB2: rs1136201 A>G | 17 | 4 | nonsynon_exon17 | - | missense | 0.221 | 0.121 | 0.678 | 97.4 |
| VEGFR2/KDR: rs11941492 C>T | 4 | No data | Intron8 | - | intron variant | 0.314 | 0.327 | 0.615 | 99.4 |
| C1orf10/CRNN: rs3753443 C>T | 1 | No data | 5’-Flanking | Y | upstream variant 2 KB | 0.456 | 0.435 | 0.853 | 98.0 |
| C1orf10/CRNN: rs3753444 C>G | 1 | 6 | 5’-Flanking | Y | upstream variant 2 KB | 0.456 | 0.436 | 0.944 | 99.5 |
| C1orf10/CRNN: rs3753446 C>A | 1 | No data | 5’-Flanking | Y | upstream variant 2 KB | 0.467 | 0.458 | 0.700 | 99.2 |
| C1orf10/CRNN: rs3829868 C>T | 1 | No data | nonsynon_exon3 | - | missense | 0.456 | 0.437 | 0.886 | 99.1 |
| C1orf10/CRNN: rs4285700 C>A | 1 | 6 | 5’-Flanking | Y | upstream variant 2 KB | 0.453 | 0.436 | 0.960 | 99.5 |
| C1orf10/CRNN: rs10888486 C>T | 1 | No data | 3’-UTR_exon3 | - | utr variant 3 prime | 0.453 | 0.437 | 0.951 | 98.8 |
Chr, chromosome;
http://www.regulomedb.org/;
TFBS, transcription factor binding site (http://snpinfo.niehs.nih.gov/snpinfo/snpfunc.htm);
MAF, minor allele frequency, FAS rs2234767 G>A and C1orf10/CRNN rs3753446 C>A MAF is in CHB+JPT population;
HWE, Hardy-Weinberg equilibrium.