Table 3.
Chr | Pos (hg19) |
LD (r2) |
Variant | Ref | Alt | ASN freq | Promoter histone marks | DNAse | Proteins bound | Motifs changed |
---|---|---|---|---|---|---|---|---|---|---|
2 | 177000616 | 1.00 | rs1348808 | T | C | 0.23 | 15 tissues | 12 tissues | CTBP2 | Ets, LF-A1, NF-E2 |
2 | 177001145 | 1.00 | rs76652183 | G | T | 0.23 | 19 tissues | 18 tissues | 5 bound proteins | EBF |
2 | 177001378 | 1.00 | rs3731795 | A | G | 0.27 | 19 tissues | 7 tissues | CTCF, p300 | |
2 | 177001962 | 0.96 | rs79025511 | C | T | 0.23 | 19 tissues | MUS, MUS | Gcm1 | |
2 | 177004689 | 0.92 | rs72927149 | G | C | 0.23 | 12 tissues | 6 tissues | Pax-5 | |
2 | 177005519 | 1.00 | rs79120932 | G | T | 0.23 | 19 tissues | 32 tissues | 5 bound proteins | 4 altered motifs |
2 | 177007102 | 1.00 | rs67435554 | G | T | 0.23 | ||||
2 | 177007527 | 1.00 | rs76363873 | A | G | 0.23 | IPSC | GATA, MZF1::1–4 | ||
2 | 177008484 | 1.00 | rs79440139 | T | A | 0.23 | 6 altered motifs |
Chr: chromosome, Pos: position, LD: linkage disequilibrium in CHB + JPT population, Ref: reference, Alt: alternative, freq: frequency, MUS: musculus, and IPSC: induced pluripotent stem cell.