Fig. 5
Core promoter variants associated with diseases. a. Venn demonstration of multiple diseases identified by core promoter variants matched with GWAS traits in different populations. Of the 163 diseases or phenotypes, 31 were shared in populations across all continents, 44 were shared in populations across the continents of Africa, American, Europe, and South Asia but not in East Asia. The rests were private to population or private to continental. b. Variant rs1883832 in CD40 core promoter. CD40 is a member of the TNF-receptor superfamily involving in immune and inflammatory responses. A variant rs1883832 is located at the core promoter of CD40 (+ 90). This variant was determined by GWAS study as being associated with high susceptibility to chronic hepatitis B infection in Chinese population. c. eQTL analysis showed rs1883832 can increase CD40 expression in lung (p = 5.5 × 10− 18)