SNP Report

Basic Info

Name	rs4430311 dbSNP Ensembl
Location	1:243852691 - 243852691(+)
Variant Seq	T
Ancestral Allele	T
Ref Seq	C
Minor Allele Frequence	0.495407
Annotation	upstream_gene_variant
Variant Effect	upstream_gene_variant(ENST00000366539, ENST00000552631)
SIFT Annotation	tolerated
SIFT Variant Effect	tolerated(ENST00000263826, ENST00000366540, ENST00000336199, ENST00000552631, ENST00000366539)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000263826, ENST00000366540, ENST00000336199, ENST00000552631, ENST00000366539)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Weak transcription;Enhancers
No. of Marker's Association Results	1 (Positive: 0; Negative: 0; Trend: 1)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 1)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Xie, P.,2013	Lifetime PTSD	Trauma Exposed European Americans: in GWAS,P-value=5.11E-06,...... Trauma Exposed European Americans: in GWAS,P-value=5.11E-06,in replication,P-value=NT,in combined, P-value=NT. More...	No significant signals was observed about this SNP. Genome-w...... No significant signals was observed about this SNP. Genome-wide association study analyses restricted to trauma-exposed individuals yielded very similar results. More...	Trend

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
AKT3	v-akt murine thymoma viral oncogene homolog 3	1q44	1(0/0/1)

SNPs in LD with rs4430311 (count: 9)

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]
rs3008660	rs4430311	upstream_gene_variant	0.8988[EUR]; 0.8504[AFR]; 0.9152[AMR]
rs12753750	rs4430311	upstream_gene_variant	0.9330[EUR]
rs2953327	rs4430311	upstream_gene_variant	0.9045[EUR]; 0.8734[AFR]; 0.9032[AMR]
rs2953331	rs4430311	upstream_gene_variant	0.8935[EUR]; 0.8738[AFR]; 0.9396[AMR]
rs2953328	rs4430311	upstream_gene_variant	0.9213[EUR]; 0.8734[AFR]; 0.9396[AMR]
rs11579649	rs4430311	upstream_gene_variant	0.9107[EUR]
rs3008659	rs4430311	upstream_gene_variant	0.9098[EUR]; 0.8738[AFR]; 0.9396[AMR]
rs3008657	rs4430311	upstream_gene_variant	0.8849[EUR]
rs3008658	rs4430311	upstream_gene_variant	0.8734[EUR]; 0.8420[AMR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
RP11-259G18.3	No	Adipose Subcutaneous	cis	GTEx