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. 2020 Oct 1;52:55. doi: 10.1186/s12711-020-00575-1

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