Predicted transcription factor binding site (TFBS) disruptions owing to the variant rs200323221. (A) MPRA transcription rate (alpha) value for rs200323221 (G > T) in the SW1353 cell line. The listed P-value is an empirical P-value reported by MPRAnalyze for significant activity compared with the negative controls in the SW1353 cell line. (B) Predicted binding score for the EGR1 motif with the given allele. The listed P-values are calculated based on the likelihood of the sequence similarity score of the allele specific sequence to the TFBS compared with the sequence similarity score using the null background allelic distribution. (C) LOGO representation of the predicted motif region with the mutated position (dashed box), reference sequence (below the graph, top row), and the alternate sequence (bottom row), with the reference and alternate alleles highlighted in the red-shaded rectangle. The y-axis represents the weight of presence each allele has at that position observed in the ENCODE motif database.
