Table 1 Polymorphisms identified by POU5F1 re-sequencing
From: Sequence variation in the human transcription factor gene POU5F1
Site1 | Location | NCBI rsnumber2 | Major allele | Minor allele | Minor Allele Frequency | Site | Location | NCBI rsnumber | Major allele | Minor allele | Minor Allele Frequency | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AD3 | ED | AD | ED | ||||||||||
-2812 | 5' | rs2269712 | C | T | 0.15 | 0.22 | 1736 | Intron 1 | rs3130502 | C | T | 0.17 | 0.20 |
-2730 | 5' | rs2269713 | T | C | 0.17 | 0.00 | 1825 | Intron 1 | rs9263809 | T | C | 0.17 | 0.13 |
-2482 | 5' | rs17197241 | C | T | 0.08 | 0.00 | 1827 | Intron 1 | A | G | 0.02 | 0.07 | |
-2411 | 5' | rs6910473 | C | T | 0.15 | 0.13 | 2524 | Intron 1 | C | T | 0.06 | 0.13 | |
-2361 | 5' | G | A | 0.02 | 0.00 | 2578 | Intron 1 | T | A | 0.02 | 0.00 | ||
-2344 | 5' | rs1265158 | G | C | 0.46 | 0.35 | 2625 | Intron 1 | A | C | 0.06 | 0.13 | |
-2218 | 5' | rs9501065 | G | A | 0.21 | 0.04 | 2665 | Intron 1 | + | - | 0.38 | 0.46 | |
-2135 | 5' | rs885948 | C | T | 0.33 | 0.46 | 2679 | Intron 1 | + | - | 0.06 | 0.13 | |
-2121 | 5' | rs6909939 | C | T | 0.15 | 0.13 | 2697 | Intron 1 | A | G | 0.17 | 0.20 | |
-1892 | 5' | C | T | 0.02 | 0.00 | 3679 | Intron 1 | + | - | 0.17 | 0.20 | ||
-1827 | 5' | G | C | 0.04 | 0.00 | 3738 | Intron 1 | + | - | 0.04 | 0.00 | ||
-1823 | 5' | rs885949 | A | G | 0.19 | 0.16 | 3781 | Intron 1 | T | C | 0.06 | 0.13 | |
-1772 | 5' | rs3132518 | C | G | 0.42 | 0.36 | 3807 | Intron 1 | C | T | 0.17 | 0.13 | |
-1755 | 5' | rs885950 | T | G | 0.40 | 0.48 | 3815 | Intron 1 | rs11965454 | A | G | 0.15 | 0.00 |
-1694 | 5' | rs885951 | G | T | 0.40 | 0.48 | 4083 | Intron 1 | G | A | 0.06 | 0.13 | |
-1691 | 5' | rs3132519 | G | A | 0.40 | 0.36 | 4202 | Intron 1 | C | T | 0.02 | 0.00 | |
-1676 | 5' | rs3094190 | T | C | 0.44 | 0.36 | 4231 | Intron 1 | rs3132526 | A | G | 0.40 | 0.46 |
-1671 | 5' | G | A | 0.00 | 0.02 | 4284 | Intron 1 | T | G | 0.00 | 0.09 | ||
-1650 | 5' | rs1265159 | C | T | 0.21 | 0.23 | 4285 | Intron 1 | + | - | 0.08 | 0.17 | |
-1611 | 5' | rs3132520 | G | A | 0.40 | 0.55 | 4322 | Intron 1 | rs1265163 | G | C | 0.17 | 0.20 |
-1566 | 5' | rs28383834 | -4 | + | 0.04 | 0.09 | 4466 | Exon 16 | rs3130932 | T | G | 0.23 | 0.33 |
-1107 | 5' | rs1108746 | G | T | 0.11 | 0.10 | 4515 | Exon 16 | rs9501063 | C | G | 0.15 | 0.00 |
-1093 | 5' | rs885952 | G | A | 0.43 | 0.55 | 4539 | Exon 16 | C | T | 0.06 | 0.13 | |
-1055 | 5' | rs879882 | G | A | 0.50 | 0.21 | 4746 | Intron 2 | A | G | 0.06 | 0.13 | |
-985 | 5' | rs5875289 | - | + | 0.17 | 0.17 | 4787 | Intron 2 | rs9281233 | + | - | 0.23 | 0.33 |
-734 | 5' | rs17197220 | A | G | 0.04 | 0.04 | 4834 | Intron 2 | + | - | 0.35 | 0.33 | |
-643 | 5' | rs9263818 | G | T | 0.17 | 0.14 | 4908 | Intron 2 | rs2106074 | T | C | 0.23 | 0.33 |
-520 | 5' | rs9263817 | C | T | 0.17 | 0.14 | 5724 | Intron 4 | rs3064866 | + | - | 0.23 | 0.33 |
-513 | 5' | rs3094191 | A | G | 0.10 | 0.23 | 5763 | Intron 4 | rs9263795 | A | G | 0.00 | 0.13 |
-400 | 5' | rs9263816 | C | A | 0.17 | 0.14 | 5770 | Intron 4 | rs2394882 | G | T | 0.23 | 0.33 |
-310 | 5' | rs17190839 | C | T | 0.15 | 0.00 | 6005 | Exon 5 | rs1061118, rs17197178 | T | C | 0.25 | 0.25 |
-75 | 5' | rs17197199 | G | A | 0.15 | 0.00 | 6116 | 3' UTR | rs3734864 | G | A | 0.02 | 0.00 |
21 | Exon 15 | rs2077010 | G | A | 0.42 | 0.50 | 6279 | 3' | rs13409 | C | T | 0.41 | 0.48 |
27 | Exon 15 | rs1265160 | C | T | 0.15 | 0.20 | 6334 | 3' | rs3130933 | G | A | 0.00 | 0.11 |
291 | Exon 1 | rs1062630 | C | T | 0.20 | 0.20 | 6466 | 3' | T | C | 0.02 | 0.00 | |
561 | Intron 1 | rs3130504 | A | T | 0.17 | 0.20 | 6582 | 3' | rs17190811 | T | A | 0.06 | 0.13 |
594 | Intron 1 | rs3094192 | C | G | 0.17 | 0.20 | 6623 | 3' | C | T | 0.02 | 0.00 | |
600 | Intron 1 | G | A | 0.25 | 0.17 | 6712 | 3' | rs9501062 | A | G | 0.12 | 0.00 | |
601 | Intron 1 | C | T | 0.04 | 0.00 | 6808 | 3' | G | T | 0.17 | 0.20 | ||
624 | Intron 1 | rs3094193 | A | C | 0.33 | 0.33 | 6810 | 3' | A | T | 0.17 | 0.20 | |
639 | Intron 1 | rs3132522 | G | A | 0.17 | 0.20 | 6813 | 3' | + | - | 0.17 | 0.20 | |
653 | Intron 1 | rs9263811 | G | A | 0.17 | 0.13 | 6822 | 3' | G | A | 0.02 | 0.00 | |
663 | Intron 1 | C | G | 0.19 | 0.04 | 6851 | 3' | rs3132528 | A | G | 0.17 | 0.20 | |
679 | Intron 1 | - | + | 0.42 | 0.50 | 7144 | 3' | rs17190798 | T | A | 0.06 | 0.14 | |
683 | Intron 1 | T | C | 0.04 | 0.07 | 7211 | 3' | rs17190783 | T | C | 0.06 | 0.14 | |
690 | Intron 1 | C | T | 0.19 | 0.04 | 7555 | 3' | rs17190776 | C | T | 0.06 | 0.13 | |
709 | Intron 1 | T | G | 0.02 | 0.00 | 7599 | 3' | rs1044870 | G | A | 0.17 | 0.13 | |
742 | Intron 1 | C | T | 0.10 | 0.00 | 7660 | 3' | rs1841 | T | C | 0.04 | 0.07 | |
770 | Intron 1 | rs9263810 | C | G | 0.17 | 0.13 | 7827 | 3' | rs1419881 | T | C | 0.44 | 0.50 |
1424 | Intron 1 | A | G | 0.02 | 0.00 | 7845 | 3' | rs9501503 | G | C | 0.02 | 0.00 | |
1570 | Intron 1 | rs3132523 | G | A | 0.17 | 0.20 | 7918 | Exon7 | rs1065461 | G | A | 0.17 | 0.20 |
1650 | Intron 1 | rs17840029 | T | C | 0.04 | 0.04 | 8128 | Intron7 | G | A | 0.02 | 0.00 | |
1688 | Intron 1 | rs3132524 | G | A | 0.17 | 0.20 | 8169 | Intron7 | rs3216869 | + | - | 0.12 | 0.00 |