SNP Report

Basic Info
Name |
rs16940686
dbSNP
Ensembl
|
Location |
17:45835664 - 45835664(+) |
Variant Seq |
T |
Ancestral Allele |
G |
Ref Seq |
G |
Minor Allele Frequence |
0.0309505 |
Annotation |
downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000580876, ENST00000535778, ENST00000577353, ENST00000581479, ENST00000582766, ENST00000352855, ENST00000583888); 3_prime_UTR_variant(ENST00000619154, ENST00000634540, ENST00000398285, ENST00000314537, ENST00000339069, ENST00000347197, ENST00000293493); intron_variant(ENST00000634876); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000634876)
|
SIFT Annotation |
deleterious
|
SIFT Variant Effect |
deleterious(ENST00000329196)
|
PolyPhen Annotation |
probably_damaging
|
PolyPhen Variant Effect |
probably_damaging(ENST00000329196)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
Chromatin interactive region
|
Chromatin State |
Weak transcription
|
No. of Marker's Association Results |
1 (Positive: 0; Negative: 1; Trend: 0) |
Source |
Literature |

SNP related association results

SNP related genes (count: 3)

SNPs in LD with rs16940686 (count: 14)
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.
Literature-origin SNPs (count: 0)
LD-proxies (count: 14)

rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
rs12952224
|
rs16940686
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9204[AMR] |
rs35327015
|
rs16940686
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8513[EUR]; 1.0000[AMR] |
rs36048893
|
rs16940686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8513[EUR]; 1.0000[AMR] |
rs16940704
|
rs16940686
|
downstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9308[EUR]; 1.0000[AFR] |
rs12939006
|
rs16940686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9204[AMR] |
rs71375321
|
rs16940686
|
upstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8513[EUR]; 1.0000[AMR] |
rs34845889
|
rs16940686
|
downstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8973[EUR] |
rs5820597
|
rs16940686
|
downstream_gene_variant; intron_variant; non_coding_transcript_variant |
1.0000[EUR]; 0.9204[AMR] |
rs36069290
|
rs16940686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9204[AMR] |
rs12937956
|
rs16940686
|
downstream_gene_variant; intron_variant; non_coding_transcript_variant |
1.0000[EUR]; 1.0000[AFR]; 1.0000[AMR] |
rs3785877
|
rs16940686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8173[EUR]; 1.0000[AMR] |
rs16940711
|
rs16940686
|
intron_variant; non_coding_transcript_variant |
0.8963[EUR]; 1.0000[AFR] |
rs28364027
|
rs16940686
|
downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR]; 1.0000[AFR]; 1.0000[AMR] |
rs12936511
|
rs16940686
|
synonymous_variant; non_coding_transcript_exon_variant; 5_prime_UTR_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9204[AMR] |

SNP related eQTL (count: 1)