Data availability

Genomic coordinates and variant annotations were defined relative to the human reference genome GRCh38 (Genome Reference Consortium Human Build 38), obtained from the Genome Reference Consortium available at https://www.ncbi.nlm.nih.gov/grc/human . Gene annotation was performed using GENCODE v.44/Ensembl 110. sc-eTRs were annotated with ENCODE (v.3) cis cCREs available at https://hgdownload.soe.ucsc.edu/gbdb/hg38/encode3/ccre/encodeCcreCombined.bb and MANE (v.1.0) available at https://ftp.ncbi.nlm.nih.gov/refseq/MANE/MANE_human/ . Summary-level association statistics are provided in the Supplementary Tables. Raw summary association statistics and the polymorphic variant catalogue are available at Zenodo ( https://doi.org/10.5281/zenodo.15009519 ) 95 . WGS data and genotypes are available through the European Genome–Phenome Archive (EGA) under accession no. EGAS50000001654 , under controlled access for non-commercial research use. scRNA-seq data are available under EGA accession no.…