Table 4 Genomic annotations of variants included within the confidence intervals (CI) of the 84 QTL, defined using either the CI of the most significant individual QTL (TOP-CI) or all the individual CI (EXT-CI) within each QTL region
Functional annotation | TOP-CI: CI of the QTL with the most significant effect | EXT-CI: Extended CI | ||
|---|---|---|---|---|
Number | % | Number | % | |
Intergenic | 6642 | 56.8 | 12,421 | 59.7 |
Upstream | 764 | 6.5 | 965 | 4.6 |
Downstream | 773 | 6.6 | 1039 | 5.0 |
3’ UTR | 41 | 0.35 | 50 | 0.24 |
5′ UTR | 14 | 0.12 | 14 | 0.07 |
Intronic | 3286 | 28.1 | 6077 | 29.2 |
Synonymous | 105 | 0.90 | 133 | 0.64 |
Non-coding transcript exon | 4 | 0.03 | 6 | 0.03 |
Splicing region | 17 | 0.15 | 27 | 0.13 |
Missense | 50 | 0.43 | 66 | 0.32 |
Total | 11,696 | 100 | 20,798 | 100 |