difference for C/EBP transcription factors (Supplementary Figure S2). Those results were consistent with previous finding about the role of rs12740374 in the lipoprotein regulatory pathway (41). We also applied same associated SNPs set on YRI and CHB populations, besides the most significant leading SNP rs12740374, we further detected rs629301 that possibly disrupting the binding of transcription factor YY1, and other GWAS3D signals (Supplementary Figures S3 and S4). Another speculation is that this variant may influence the recognition and targeting of miR-199 in the 3′UTR of CELSR2. This variant was frequently reported as a highly associated signal in 1p13 region with LDL-C (42,43). Interestingly, we did not observe strong enhanced signals (active enhancer or promoter) at those GWAS-associated variants when we used non-liver cell type such as K562, H1-hESC and HeLa-S3. In contrast, CTCF-binding sites were observed around some of those associated variants, which may reflect the phenotypically cell type-specific association (Supplementary Figure S5) (22).
