Genomic landscape of the NAV2, NKD1, GRIP1, and NKD1 loci with regulatory and functional annotations. This figure presents a multilayered visualization of genomic features at the NAV2 (top left), NKD1 (top right), and GRIP1 (bottom) loci, integrating data from various regulatory and functional data sets. Dashed vertical lines mark variant genomic positions, providing a reference for overlapping regulatory and functional elements. (A) Variants and CADD score; displays the genetic sentinel variant (triangle) and its proxies (dots) mapped to the region, along with their Combined Annotation Dependent Depletion (CADD) scores indicating potential functional impact. (B) RefSeq genes; annotated gene models from the RefSeq database. (C) Predicted regulatory regions; regulatory elements predicted in relevant cell types using the ABC_rE2G model (score ≥ 0.5), which links regulatory regions to target genes.¹¹ (D) Chromatin immunoprecipitation-Atlas–Assay for Transposable-Accessible Chromatin (ATAC)-seq tracks; open chromatin regions identified across multiple blood-derived cell types, highlighting accessible regulatory regions. (E) GTEx expression²¹; expression QTLs (eQTLs) from the GTEx database across all available tissues and cell types (q ≤ 0.05), in which colors represent the direction and magnitude of the effect (red, positive; blue, negative). (F) Kammers et al²²; eQTLs identified in megakaryocytes and platelets, linking genetic variants to gene expression changes.