PTSDgene database

Pathway Enrichment Analysis Protein-Protein Interaction Analysis

SNP Report

Basic Info

Name	rs4640231 dbSNP Ensembl
Location	17:45835420 - 45835420(+)
Variant Seq	C
Ancestral Allele	C
Ref Seq	G
Minor Allele Frequence	0.086861
Annotation	downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000583888, ENST00000581479, ENST00000582766, ENST00000577353, ENST00000580876, ENST00000352855); 3_prime_UTR_variant(ENST00000347197, ENST00000634540, ENST00000339069, ENST00000398285, ENST00000293493, ENST00000535778, ENST00000314537, ENST00000619154); intron_variant(ENST00000634876); NMD_transcript_variant(ENST00000347197, ENST00000535778); non_coding_transcript_variant(ENST00000634876)
SIFT Annotation	deleterious_-_low_confidence
SIFT Variant Effect	deleterious_-_low_confidence(ENST00000583888)
PolyPhen Annotation	unknown
PolyPhen Variant Effect	unknown(ENST00000583888)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	Chromatin interactive region
Chromatin State	ZNF genes & repeats;Bivalent Enhancer;Weak transcription;Enhancers
No. of Marker's Association Results	0 (Positive: 0; Negative: 0; Trend: 0)
Source	LD-proxy

SNP related association results

SNP related genes (count: 3)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
CRHR1	corticotropin releasing hormone receptor 1	17q21.31	12(6/6/0)
SPPL2C	signal peptide peptidase like 2C	17q21.31	Mapped by Literature SNP, Mapped by LD-proxy, rSNP target
MAPT-AS1	MAPT antisense RNA 1	17q21.31	Mapped by Literature SNP, Mapped by LD-proxy, rSNP target

SNPs in LD with rs4640231 (count: 0)

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
DND1P1	No	Adipose Subcutaneous	cis	GTEx