Table 1 The number of SNPs tested, and the number with allele-specific effects, in the MPRA at each locus
From: Identification of functional non-coding variants associated with orofacial cleft
Locus | Tested in MPRA (887 total) | Allele-specific effects in MPRA (65 total) | Further supported by chromatin evidence in embryonic faces and/or NHEK | Tested in luciferase reporter assays in HEKn and GMSM-K | Tested by genome engineering in induced oral epithelium |
|---|---|---|---|---|---|
1q32/IRF6 | 608 | 46 | 9 | rs11119348, rs661849 | rs11119348, rs661849 |
2p21/THADA | 40 | 1 | - | ||
3q28/TP63 | 14 | 1 | 1 | rs75436877 | |
6p24.3/TFAP2A | 112 | 8 | 2 | rs201265 | |
9q22.2/GADD45G | 36 | 2 | - | ||
9q22.33/FOXE1 | 9 | 1 | 1 | rs10984103 | rs10984103 |
12q13.13/KRT18 | 14 | 2 | - | ||
20q12/MAFB | 54 | 4 | 1 | rs4812449 |
