Legends
Figure 1 . The process diagram for investigating genetic basis of obesity in Chinese children . At discovery stage, whole-exome sequencing identified promising candidates. At validation and transcriptome stage, two coding variants that are significant associated with obesity might act through altering gene expression.
Figure 2 . The genomic context of the genome-wide significant SNVs associated with childhood obesity in Chinese . Both rs1059491 (A) and rs189326455 (B) reside in conserved promoter region ofSULT1A2 (NC_000016.10) and MAP3K21 (NC_000001.11), respectively. (C) The T allele (ancestral) and G allele (derived) show different binding ability to transcription factors. Red lines indicate the locus of rs1059491. Orange blocks indicate the possible binding site for transcription factors.
Figure 3 . The expression change of genes affected by rs1059491 . (A) Gene expression differences in blood and adipose tissues among different genotypes (TT, TG, and GG) of rs1059491. Violin plots show the expression level of obesity-related genes from GTEx database and box plots show that of genes from our transcriptome data. (B) Transcriptome data show that rs1059491 results in significant differences in obesity-related genes between cases and controls in both blood and adipose tissues.
Figure 4 . A scheme illustrates the potential implication of rs1059491 and rs189326455 in obesity .
Supplementary Figure 1. The prediction of secondary structure changes of SULT1A2 and MAP3K21 caused by mutant allele of rs1059491 and rs189326455, respectively .
Supplementary Figure 2 . The allele frequency of rs1059491 in different populations across the world . ACB, African Caribbean in Barbados. ASW, Americans of African Ancestry in SW USA. CHB, Han Chinese in Beijing, China. CHS, Southern Han Chinese. CLM, Colombians from Medellin, Columbia. FIN, Finish in Finland. GBR, British in England and Scotland. ITU, Indian Telugu from the UK. JPT, Japanese in Tokyo, Japan. KHV, Kinh in HO Chi Minh City, Vietnam. PEL, Peruvians from Lima, Peru. PUR, Puerto Ricans from Puerto Rico.