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. 2020 Aug 10;107(3):461–472. doi: 10.1016/j.ajhg.2020.07.005

Figure 4.

Figure 4

Genetic Variation and GWAS Association of an AS Event in BCL2A1

(A) An ASAS event in BCL2A1 with respect to SNP rs3826007 in the six replicates of GM12878. The 95% confidence intervals of exon inclusion levels are indicated as the error bars for each allele. Each line of the y axis represents one of the biological replicates of GM12878.

(B) The same event in 45 individuals heterozygous for rs3826007 in the CEU population.

(C) An sQTL event in BCL2A1 with respect to SNP rs3826007 in the CEU population. Each dot represents data from a particular individual, and the size of the dot indicates the number of reads covering the AS event in that individual. The middle line of the boxplot represents median value. The low and high ends of the box represent the 25% and 75% quantile, respectively.

(D) LD plot for the CEU population showing three GWAS SNPs (green boxes) linked with the ASAS/sQTL SNP rs3826007 (purple box) in BCL2A1.