Extended Data Fig. 9: Extended view of the SLC13A3 region.

The upper part of the figure shows the same RNA-seq, ATAC-seq, chromatin state and histone ChIP-seq tracks as Fig. 7. The index SNP rs6124828, that is associated with malate, fumarate, and methylsuccinoylcarnitine in plasma as well as with methylsuccinoylcarnitine in urine is located at the second vertical dashed line from the left. The bottom part shows single nucleus (sn)ATAC-seq data for different kidney cell types, which was derived from primary human kidney samples39. The position of rs6124828 is nearly exclusively accessible in proximal tubule cells (PT). PTs are the predominant cell type in the kidney cortex, underscoring the consistency of the snATAC-seq data and the bulk ATAC-seq data. Other cell types shown include: Endothelial cells (Endo), podocytes (Podo), loop of Henle cells (LOH), distal convoluted tubule cells (DCT), collecting duct principal cells (CDPC), collecting duct intercalated cells (CDIC), immune cells (Immune).