Figure 7

Binding potential and risk alleles of disease. (a) The trait/disease-associated (TAS) SNP rs2205960 (box, red outline) is associated with systemic lupus erythematosus. The 300-bp region (BRS) of individual NA12878, who is a carrier of the risk allele (T), contains a single 11-mer that was enriched during EMSA-Seq with RELAp50 whereas NA12891, who carries the normal allele, does not. This has resulted in NA12878 having a higher NF-κB binding potential that is directly correlated to higher in vivo binding. (b) The TAS rs68065278 (box, red outline) is associated with celiac disease. It is in linkage disequilibrium with another polymorphism, rs6776243, present within the BRS (box, green outline). The BRS of individual NA12878, who is a carrier of the C allele for rs6776243, contains more 11-mers that were enriched during EMSA-Seq with RELAp50 than that of the other individual. This has resulted in NA12878 having a higher NF-κB binding potential that is likewise directly correlated to higher in vivo binding.