Extended Data Fig. 7: MPRA and LRA identified three functional Di-SNPs near NLK.
(a) MFVs and regulatory elements near NLK. rs75827647, rs10468581 and rs113940275 are Di-SNPs from the San population. (b) LRA and MPRA results showing allelic skews at rs75827647 in MNT-1 and WM88 cells. MPRA (n = 3), LRA (MNT-1, n = 6; WM88, n = 9). (c) LRA and MPRA results showing allelic skews at rs10468581 in MNT-1 and WM88 cells. MPRA (n = 3), LRA (MNT-1, n = 6; WM88, n = 9). (d) LRA and MPRA results showing allelic skews at rs113940275 in MNT-1 and WM88 cells. MPRA (n = 3), LRA (MNT-1, n = 6; WM88, n = 11). From b to d, the barplots are results of LRA, two-tailed paired t-tests without adjustments for multiple comparisons; data were presented as mean ± SEM. ns p > 0.05. The boxplots are results from MPRA, p-values were estimated with a random effects model for mpralm and paired t-tests with multiple testing adjustments. The right panels are allele frequency maps constructed using the 180G18 and 1000 G31 dataset. For boxplots, central lines are median, with boxes extending from the 25th to the 75th percentiles. Whiskers further extend by ±1.5 times the interquartile range from the limits of each box.
