Extended Data Fig. 6: Additional saturation mutagenesis examples.
From: Functional dissection of complex trait variants at single-nucleotide resolution
a,c,e. MPRA results of transcriptional activity for the reference (darker shade) and alternative (lighter shade) allele(s) in either K562 (blues) or HepG2 (purples) for TARVs rs11571842 (a), rs536864739 (c), and rs7953706 (e). Error bars indicate SEs. b,d,f. Nucleotide contribution scores across the elements containing TARVs from a,c, and e are highlighted by a dark yellow or green bar. Activity measurements for all positions when tested on the reference (top) or alternative (bottom) allele are depicted as lollipops indicating the change from baseline activity (Δ log2 activity). Activity blocks (ABs) are labeled with a gray bar and matching TF motifs are highlighted with a black bar. Shaded boxes overlap allele(s) of interest, with a callout of the saturation mutagenesis constructed motif (MPRA) and catalogued TF motif PWM. g,h. Pearson correlation between the average allelic effect and mammalian constraint (PhyloP) for two separate loci. Positive values indicate activating sequences whereas negative values indicate repressive sequences.
