SNP Report

Basic Info
Name |
rs7208505
dbSNP
Ensembl
|
Location |
17:59110368 - 59110368(+) |
Variant Seq |
A |
Ancestral Allele |
A |
Ref Seq |
G |
Minor Allele Frequence |
0.408347 |
Annotation |
downstream_gene_variant; upstream_gene_variant; 3_prime_UTR_variant; intron_variant; non_coding_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000583976, ENST00000578519, ENST00000437036, ENST00000583927, ENST00000578105, ENST00000580541, ENST00000581068, ENST00000583380); upstream_gene_variant(ENST00000393066, ENST00000583387, ENST00000580122, ENST00000584889, ENST00000625984, ENST00000262294, ENST00000580973, ENST00000393065, ENST00000580620, ENST00000577554); 3_prime_UTR_variant(ENST00000330137); intron_variant(ENST00000451775); non_coding_transcript_variant(ENST00000451775)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000578105, ENST00000583380, ENST00000330137)
|
PolyPhen Annotation |
possibly_damaging
|
PolyPhen Variant Effect |
possibly_damaging(ENST00000578105, ENST00000583380, ENST00000330137)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
CpG island;Chromatin interactive region
|
Chromatin State |
Weak transcription;Strong transcription;Enhancers
|
No. of Marker's Association Results |
2 (Positive: 0; Negative: 2; Trend: 0) |
Source |
Literature |

SNP related association results

SNP related genes (count: 4)

SNPs in LD with rs7208505 (count: 25)
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: 25)

rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
rs58092632
|
rs7208505
|
intron_variant; NMD_transcript_variant |
0.8039[EUR] |
rs12603238
|
rs7208505
|
intron_variant; NMD_transcript_variant |
0.8398[EUR] |
rs8182277
|
rs7208505
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8552[EUR] |
rs8072712
|
rs7208505
|
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant |
0.8974[EUR] |
rs6416933
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8552[EUR] |
rs8067264
|
rs7208505
|
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9189[EUR] |
rs6503896
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9834[EUR] |
rs11868348
|
rs7208505
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9189[EUR] |
rs7503190
|
rs7208505
|
downstream_gene_variant; non_coding_transcript_exon_variant; 5_prime_UTR_variant; upstream_gene_variant; non_coding_transcript_variant |
0.9189[EUR] |
rs8082544
|
rs7208505
|
downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9189[EUR] |
rs4932693
|
rs7208505
|
intron_variant; NMD_transcript_variant |
0.8039[EUR] |
rs7502208
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant |
0.8974[EUR] |
rs11654986
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9780[EUR] |
rs6503893
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8552[EUR] |
rs56360354
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR] |
rs11658974
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9246[EUR] |
rs6503894
|
rs7208505
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8974[EUR] |
rs6416932
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8501[EUR] |
rs7214098
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR] |
rs12051897
|
rs7208505
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9020[EUR] |
rs1871751
|
rs7208505
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR] |
rs8069033
|
rs7208505
|
intron_variant; NMD_transcript_variant |
0.8247[EUR] |
rs1967415
|
rs7208505
|
intron_variant; NMD_transcript_variant |
0.8039[EUR] |
rs11658694
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR] |
rs2333410
|
rs7208505
|
downstream_gene_variant; intron_variant; NMD_transcript_variant |
0.8398[EUR] |

SNP related eQTL (count: 1)