Table 1. Breakdown of ASE SNVs in each ethnic population.
| Population | Individual | SNVs | Total | Common SNVs (MAF>0.05) | Rare SNVs (MAF≤0.01) | Very rare SNVs (MAF≤0.005) |
|---|---|---|---|---|---|---|
| CEU | 75 | HET | 10,651,149 | 6,308,566 | 2,524,103 | 1,783,747 |
| ACC | 272,764 | 211,466 | 31,357 | 21,794 | ||
| ASE | 22,664 (8%) | 16,347 (8%) | 3,453 (11%) | 2,546 (12%) | ||
| FIN | 71 | HET | 10,004,674 | 6,241,404 | 2,048,207 | 1,401,508 |
| ACC | 102,001 | 66,449 | 19,809 | 13,903 | ||
| ASE | 14,276 (14%) | 9,781 (15%) | 2,718 (14%) | 2,005 (14%) | ||
| GBR | 67 | HET | 10,276,322 | 6,217,359 | 2,319,797 | 1,624,709 |
| ACC | 110,901 | 71,257 | 22,735 | 16,326 | ||
| ASE | 14,805 (13%) | 10,220 (14%) | 2,644 (12%) | 1,996 (12%) | ||
| TSI | 92 | HET | 11,475,093 | 6,331,145 | 3,104,327 | 2,293,577 |
| ACC | 119,326 | 70,407 | 30,240 | 22,969 | ||
| ASE | 18,364 (15%) | 12,027 (17%) | 3,691 (12%) | 2,723 (12%) | ||
| YRI | 74 | HET | 17,173,494 | 6,202,905 | 7,189,972 | 4,887,934 |
| ACC | 217,253 | 93,225 | 74,924 | 49,923 | ||
| ASE | 32,484 (15%) | 16,191 (17%) | 9,690 (13%) | 6,685 (13%) | ||
| CHB/JPT | 2 | HET | 3,185,252 | 2,892,601 | 114,990 | 76,669 |
| ACC | 27,222 | 24,046 | 1,404 | 1,020 | ||
| ASE | 1,328 (5%) | 1,120 (5%) | 114 (8%) | 94 (9%) | ||
| Total (unique) | 381 | HET | 24,198,160 | 6,654,217 | 12,663,914 | 9,549,941 |
| ACC | 469,802 | 243,312 | 147,824 | 109,479 | ||
| ASE | 63,541 (14%) | 32,954 (14%) | 19,703 (13%) | 14,653 (13%) |
ACC, accessible; ASE, allele-specific expression; CEU, Utah residents in the United States with Northern and Western European ancestry; CHB, Han Chinese from Beijing, China; FIN, Finnish from Finland; GBR, British in England and Scotland; HET, heterozygous; JPT, Japanese from Tokyo, Japan; MAF, minor allele frequency; SNV, single nucleotide variant; TSI, Toscani from Italy; YRI, Yorubans from Ibadan, Nigeria.
HET, ACC and ASE SNVs with MAF are shown for 381 unrelated individuals (excluding NA12878). For each of the last 3 columns, each category of HET, ACC and allele-specific SNVs is further stratified by the population MAFs: common (MAF>0.05), rare (MAF≤0.01) and very rare (MAF≤0.005). The number of allele-specific SNVs is given as a percentage of the ACC SNVs.
This table also provides the number of individuals from each ethnic population with RNA-seq data available for the ASE analyses.