SNP Report

Basic Info

Name	rs1143634 dbSNP Ensembl
Location	2:112832813 - 112832813(+)
Variant Seq	A
Ancestral Allele	G
Ref Seq	G
Minor Allele Frequence	0.132788
Annotation	downstream_gene_variant; synonymous_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000496280, ENST00000477398); synonymous_variant(ENST00000432018, ENST00000418817, ENST00000416750, ENST00000263341); non_coding_transcript_exon_variant(ENST00000491056, ENST00000487639); non_coding_transcript_variant(ENST00000491056, ENST00000487639)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(ENST00000432018, ENST00000418817, ENST00000416750, ENST00000263341)
PolyPhen Annotation	probably_damaging
PolyPhen Variant Effect	probably_damaging(ENST00000432018, ENST00000418817, ENST00000416750, ENST00000263341)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	Chromatin interactive region
Chromatin State	Weak transcription;Strong transcription;Genic enhancers;Transcr. at gene 5' nd 3';Enhancers;Flanking Active TSS
No. of Marker's Association Results	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 1)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Hovhannisyan, L.,2017	PTSD diagnosis	G carriage: OR=0.80, P-value=0.38, corrected P-value=1 G carriage: OR=0.80, P-value=0.38, corrected P-value=1	No association between this SNP and PTSD was found. No association between this SNP and PTSD was found.	Non-significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
IL1A	interleukin 1 alpha	2q14	rSNP target
IL1B	interleukin 1 beta	2q14	1(1/0/0)

SNPs in LD with rs1143634 (count: 5)

The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs3917373	rs1143634	synonymous_variant; downstream_gene_variant; non_coding_transcript_exon_variant; splice_region_variant; non_coding_transcript_variant	0.9192[EUR]
rs1143637	rs1143634	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.9863[EUR]
rs1143639	rs1143634	downstream_gene_variant; non_coding_transcript_exon_variant; intron_variant; non_coding_transcript_variant	0.9863[EUR]
rs1071676	rs1143634	downstream_gene_variant; 3_prime_UTR_variant	0.9728[EUR]
rs3917366	rs1143634	downstream_gene_variant	0.9728[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
RP11-707O23.5	No	Adipose Subcutaneous	cis	GTEx