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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
  1. 1Polymorphism sites are named according to the number of bases from the first transcription start site, 2National Center for Biotechnology Information (NCBI) rsnumbers are included if they have been previously published, 3AD, African-descent and ED, European-descent populations, 4 (-), deletion and (+), insertion polymorphisms. The (+) allele for each loci is as follows: -1566 = G, -985 = G, 679 = TCTG, 2665 = G, 2679 = AG, 3679 = GAG, 3738 = TG, 4284 = CTC, 4787 = CT, 4834 = GGGCTT, 5724 = TC, 6813 = A, 8169 = GAAG, 5Exon for POU5F1 isoform 1 only, 6Exon for POU5F1 isoform 2 only, 7Loci are 3' of the POU5F1 gene, and in the exon/intron of the flanking TCF 19 gene.