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. 2022 Oct 10;13:1008184. doi: 10.3389/fimmu.2022.1008184

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
a

chromosome position is based on NCBI Build 37.

b

Histone modification of H3K4me1 and H3K27ac (tissue types: if >3, only the number is included).

c

Histone modification of H3K4me3 (tissue types: if >3, only the number is included).

d

Levels of DNase I hypersensitivity (tissue types: if >3, only the number is included).

e

Alteration in transcription factor binding (disruptions: if >3, only the number is included).

f

Alteration in regulatory motif (disruptions: if >3, only the number is included).