Table 3.
Summary of functional annotations for 4 SNPs in 6 human diseases (strong epidemiological credibility).
| Variant | Gene | Positiona | Annotation | Promoter histone marksb | Enhancer histone marksc | DNAsed | Proteins bounde | Motifs changedf |
|---|---|---|---|---|---|---|---|---|
| rs763780 | IL17F | 52101739 | missense | ESDR, BLD | BLD, HRT | Lmo2-complex,Mtf1 | ||
| rs1889570 | IL17F | 52110734 | ESDR, IPSC, BRST | GI, LIV | HDAC2,NF-I,NRSF | |||
| rs2275913 | IL17A | 52051033 | BLD | BLD | ||||
| rs8193037 | IL17A | 52051109 | BLD, GI | BLD |
chromosome position is based on NCBI Build 37.
Histone modification of H3K4me1 and H3K27ac (tissue types: if >3, only the number is included).
Histone modification of H3K4me3 (tissue types: if >3, only the number is included).
Levels of DNase I hypersensitivity (tissue types: if >3, only the number is included).
Alteration in transcription factor binding (disruptions: if >3, only the number is included).
Alteration in regulatory motif (disruptions: if >3, only the number is included).