Table 1.
PolyTE disease associations.
| PolyTEa | Chrb | Posb | GWAS SNPc | GWAS Phenotypec | GWAS genec | GWAS P-valuec | #Enhancer Overlapsd | eGened | eQTL P-valued | eQTL Typed |
|---|---|---|---|---|---|---|---|---|---|---|
| Alu-2829 | 3 | 154966214 | rs13064954 | Diabetic retinopathy | LINC00881, CCNL1 | 7.00E-07 | 1 | LILRA1 | 5.94e-10 | Trans |
| Alu-5072 | 6 | 32589834 | rs4530903 | Lymphoma | TRNAI25 | 2.00E-08 | 20 | HLA-DRB5 | 8.49e-13 | Cis |
| Alu-5075 | 6 | 32657952 | rs2858870 | Nodular sclerosis Hodgkin lymphoma | TRNAI25 | 8.00E-18 | 15 | HLA-DQB1-AS1 | 1.36e-11 | Cis |
| SVA-282 | 6 | 33030313 | rs3077 | Chronic hepatitis B infection | HLA-DPA1 | 5.00E-39 | 6 | HLA-DPB2 | 1.05e-13 | Cis |
| SVA-401 | 9 | 33130564 | rs10758189 | IgG glycosylation | B4GALT1 | 2.00E-06 | 4 | B4GALT1 | 4.47e-20 | Cis |
| SVA-438 | 10 | 17712792 | rs6602203 | Glucose homeostasis traits | ST8SIA6-AS1, PRPF38AP2 | 5.00E-06 | 7 | TMEM236 | 1.30e-07 | Cis |
aPolyTE insertion identifier following the nomenclature of the 1KGP structural variation group. bGenomic location of the polyTE. cInformation on the linked disease-associated GWAS SNP, disease phenotype and gene. dInformation on the regulatory potential of the polyTE insertion based on co-location with enhancers and eQTL analysis.