GSE117565
Fucntional genetic variants mediate their regulatory effects through altered transcription factor binding. [Bisulfite-Seq]
The extensive molecular characterization of the transcriptional regulatory landscape within the LCLs of a 3-generation, 17-member kindred was performed to allow for the identification of functional variants. A variant associated with changes in multiple molecular phenotypes was selected for validation through precise CRISPR/Cas9 editing. Edited clones were subsequently tested for reconstitution of function through CRISPR/dCas9 targeted TF activation. Overall design: DNA methylation within a 3-generation,17-member kindred were assayed using a strand sensitive library construction