Table 1 Variants called in core promoters in each population (> = 2 individuals/population)
Population | Variants | Classification(%) | Types of variation (%) | Ts/Tv ratio | |||
|---|---|---|---|---|---|---|---|
1000 Genome | Novel | Substitution | Insertion | Deletion | |||
YRI | 11176 | 10441 (92.4) | 844 (7.6) | 9682 (86.6) | 671 (6.0) | 823 (7.4) | 3.67 |
ESN | 7669 | 7046 (91.5) | 653 (8.5) | 6634 (86.5) | 424 (5.5) | 611 (8.0) | 3.39 |
PEL | 7623 | 6251 (82.5) | 1331 (17.5) | 6705 (88.0) | 418 (5.5) | 500 (6.6) | 3.41 |
IBS | 7379 | 6751 (91.0) | 667 (9.0) | 6290 (85.2) | 506 (6.9) | 583 (7.9) | 3.61 |
PUR | 6685 | 6092 (91.2) | 588 (8.8) | 5849 (87.5) | 337 (5.0) | 500 (7.5) | 3.77 |
CEU | 6477 | 5781 (89.8) | 663 (10.2) | 5574 (86.1) | 417 (6.4) | 486 (7.5) | 3.80 |
GIH | 6387 | 5874 (91.2) | 559 (8.8) | 5492 (86.0) | 426 (6.7) | 470 (7.4) | 3.52 |
CHB | 6354 | 5688 (88.5) | 730 (11.5) | 5312 (83.6) | 488 (7.7) | 554 (8.7) | 3.65 |
ASW | 5760 | 5286 (91.7) | 477 (8.3) | 5053 (87.7) | 296 (5.1) | 411 (7.1) | 3.60 |
GWD | 5567 | 5081 (91.4) | 480 (8.6) | 4807 (86.3) | 328 (5.9) | 432 (7.8) | 3.34 |
MSL | 5072 | 4834 (95.4) | 231 (4.6) | 4531 (89.3) | 237 (4.7) | 304 (6.0) | 3.67 |
PJL | 4561 | 3999 (87.1) | 589 (12.9) | 3816 (83.7) | 317 (7.0) | 428 (9.4) | 3.50 |
ITU | 4402 | 3907 (88.9) | 490 (11.1) | 3798 (86.3) | 351 (8.0) | 253 (5.7) | 3.33 |
ACB | 4308 | 3984 (95.0) | 216 (5.0) | 3806 (88.3) | 212 (4.9) | 290 (6.7) | 3.90 |
STU | 4282 | 3786 (87.8) | 523 (12.2) | 3607 (84.2) | 304 (7.1) | 371 (8.7) | 3.55 |
LWK | 4245 | 4047 (95.8) | 178 (4.2) | 3839 (90.4) | 153 (3.6) | 253 (6.0) | 3.94 |
BEB | 3746 | 3228 (89.2) | 404 (10.8) | 3332 (88.9) | 190 (5.1) | 224 (6.0) | 3.78 |
TSI | 3617 | 3223 (89.0) | 399 (11.0) | 3104 (85.8) | 215 (5.9) | 298 (8.2) | 3.85 |
CLM | 3016 | 2728 (92.0) | 240 (8.0) | 2659 (88.2) | 160 (5.3) | 197 (6.5) | 3.58 |
CHS | 2995 | 2637 (87.7) | 369 (12.3) | 2526 (84.3) | 216 (7.2) | 253 (8.4) | 3.28 |
CDX | 2948 | 2576 (86.7) | 391 (13.3) | 2515 (85.3) | 189 (6.4) | 244 (8.3) | 3.25 |
FIN | 1803 | 1646 (91.6) | 151 (8.4) | 1586 (88.0) | 81 (4.5) | 136 (7.5) | 3.94 |
GBR | 1315 | 1213 (91.1) | 117 (8.9) | 1121 (85.2) | 77 (5.9) | 117 (8.9) | 3.87 |
JPT | 953 | 879 (92.2) | 74 (7.8) | 814 (85.4) | 59 (6.2) | 80 (8.4) | 3.81 |
KHV | 747 | 650 (87.3) | 95 (12.7) | 643 (86.1) | 45 (6.0) | 59 (7.9) | 3.37 |
Ave. total | 4763 | 4305 (90.4) | 457 (9.6) | 643 (86.1) | 284 (6.0) | 355 (7.5) | 3.60 |