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Fig. 4
a Chromosomal position of rs7587026 with respect to the three known SCN1A promoter regions. rs7587026 falls within the same LD block as the P1b promoter. X-axis: position on chromosome 2, Y-axis: elements that were considered (SCN1A promoter regions, LD blocks defined using the BigLD function and PLINK). b The top half of the figure shows the genetic position of the three SCN1A promoter regions, rs7587026, as well as a representation of the LD blocks that span the locus; the bottom half shows the sequence constraint level. c Level of sequence constraint of the genetic region surrounding rs7587026. Sequence constraint is expressed as context-dependent tolerance score (CDTS), indicating the likelihood of variation. Negative CDTS scores indicate highly constrained regions, infrequently mutated in healthy individuals and more likely to be functionally relevant