SNP Report

Basic Info

Name	rs7949972 dbSNP Ensembl
Location	11:34480495 - 34480495(+)
Variant Seq	T
Ancestral Allele	C
Ref Seq	C
Minor Allele Frequence	0.419329
Annotation	downstream_gene_variant; intron_variant
Variant Effect	downstream_gene_variant(ENST00000579311, ENST00000528709); intron_variant(ENST00000312319, ENST00000429939, ENST00000620316, ENST00000257832)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(ENST00000620316, ENST00000312319, ENST00000429939, ENST00000257832)
PolyPhen Annotation	probably_damaging
PolyPhen Variant Effect	probably_damaging(ENST00000620316, ENST00000312319, ENST00000429939, ENST00000257832)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Bivalent Enhancer;Enhancers;Weak transcription
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
Duan, Z. X.,2014	PTSD diagnosis	Codominant effect: P-value=0.88; Dominant effect: P-value=...... Codominant effect: P-value=0.88; Dominant effect: P-value=0.69; Recessive effect: P-value=0.90 More...	We found that none of six tag SNPs of the CAT gene were sign...... We found that none of six tag SNPs of the CAT gene were significantly associated with the risk of PTSD in all alternative analysis model. More...	Non-significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
CAT	catalase	11p13	1(1/0/0)
ELF5	E74-like factor 5 (ets domain transcription factor)	11p13-p12	Mapped by Literature SNP, Mapped by LD-proxy

SNPs in LD with rs7949972 (count: 4)

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]
rs1535721	rs7949972	downstream_gene_variant	0.8089[ASN]
rs7947771	rs7949972	downstream_gene_variant	0.9239[ASN]
rs61882275	rs7949972	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.9375[ASN]
rs1323690	rs7949972	downstream_gene_variant; 3_prime_UTR_variant	0.9517[ASN]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
LRRC37A4P	No	Adipose Subcutaneous	cis	GTEx