Additional file 3: of Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population

Table S1. List of eQTL causal intermediate-sized deletions chosen for PCR validation, and the results of the PCR validation using 30 1000 Genomes JPT samples. Table S2. Annotation of regulatory features and predicted chromatin states for identified intermediate-sized deletions. Table S3. List of highconfidence intermediate-sized deletions after detection and filtering. Table S4. Results of enrichment analysis for annotated overall regulatory features. Table S5. Results of enrichment analysis for annotated GM12878 cell line-specific regulatory features. Table S6. Results of enrichment analysis of annotated regulatory features comparing causal intermediate-sized deletions that increased gene expression levels against those with decreased gene expression levels. Table S7. Results of enrichment analysis for deletion candidates overlapping Alu transposons. Table S8. Results of enrichment analysis for phylogenetic status of causal and non-causal deletions, as well as for deletions the overlap Alu transposons. (XLSX 5262 kb)