Supplementary Figure 22 : Prioritizing genes and variants associated with red blood cell traits

Supplementary Figure 22 | Prioritizing genes and variants associated with red blood cell traits

a, Barplots depicting KLF1 expression across the top 20 biosamples with highest expression in transcripts per million (TPM). Bars are colored by tissue/organ of origin as defined on SCREEN. b, Barplots depicting PRDX2 expression in TPM across the top 18 biosamples with highest expression plus K562. Bars are colored by tissue/organ of origin as defined on SCREEN. c, Genome browser view of two variants rs228072 and rs2072597 in high linkage disequilibrium with variants associated with Red Blood Cell traits. Data for two cell types, CD14+ monocytes and K562 cells are shown including cell type specific cCREs and signals for DNase (green), H3K4me3 (red), H3K27ac (yellow) and CTCF (blue). On the bottom are PhyloP conservation scores from mammalian and vertebrate alignments. d, Circular dendrogram displaying phylogeny for 240 placental mammals from the Zoonomia project showing amino acid usage at position 102 of KLF1 based on each species reference genome. e, Genome browser view of rs2280742 and overlapping cCRE EH38E3291349 (yellow) and transcription factor peaks with corresponding position of motif (green).