Table 2. Breakdown of ASB SNVs in each ethnic population.
Population | Individual | TFs | SNVs | Total | Common SNVs (MAF>0.05) | Rare SNVs (MAF≤0.01) | Very rare SNVs (MAF≤0.005) |
---|---|---|---|---|---|---|---|
CEU | 8 | 12 | HET | 10,651,149 | 6,308,566 | 2,524,103 | 1,783,747 |
ACC | 56,456 | 49,648 | 2,124 | 1,180 | |||
ASB | 2,802 (5%) | 2,138 (4%) | 264 (12%) | 161 (14%) | |||
YRI | 3 | 4 | HET | 17,173,494 | 6,202,905 | 7,189,972 | 4,887,934 |
ACC | 62,525 | 41,365 | 7,129 | 3,508 | |||
ASB | 3,113 (5%) | 1,726 (4%) | 648 (9%) | 422 (12%) | |||
CHB/JPT | 2 | 3 | HET | 3,185,252 | 2,892,601 | 114,990 | 76,669 |
ACC | 16,252 | 14,633 | 629 | 418 | |||
ASB | 598 (4%) | 428 (3%) | 70 (11%) | 49 (12%) | |||
Total (unique) | 13 | 12 | HET | 24,198,160 | 6,599,592 | 12,659,237 | 9,545,352 |
ACC | 106,057 | 76,889 | 9,865 | 5,102 | |||
ASB | 6,136 (6%) | 3,949 (5%) | 979 (10%) | 631 (12%) |
ACC, accessible; ASB, allele-specific binding; CEU, Utah residents in the United States with Northern and Western European ancestry; CHB, Han Chinese from Beijing, China; HET, heterozygous; JPT, Japanese from Tokyo, Japan; MAF, minor allele frequency; SNV, single nucleotide variant; TF, transcription factor; YRI, Yorubans from Ibadan, Nigeria.
HET, ACC and ASB 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 ChIP-seq data available for the ASB analyses.