SNP Report

Basic Info
Name |
rs116647843
dbSNP
Ensembl
|
Location |
6:15533609 - 15533609(+) |
Variant Seq |
A |
Ancestral Allele |
G |
Ref Seq |
G |
Minor Allele Frequence |
0.0071885 |
Annotation |
upstream_gene_variant; intron_variant; NMD_transcript_variant
|
Variant Effect |
upstream_gene_variant(ENST00000514651); intron_variant(ENST00000510395, ENST00000509674, LRG_588t2, ENST00000513680, ENST00000344537, ENST00000506844, ENST00000515875, ENST00000622898, ENST00000462989, LRG_588t1, ENST00000338950, ENST00000511762, ENST00000355917); NMD_transcript_variant(ENST00000510395, ENST00000513680, ENST00000506844, ENST00000515875)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000509674, ENST00000511762, LRG_588t1, ENST00000355917, ENST00000462989, ENST00000515875, ENST00000338950, LRG_588t2, ENST00000622898, ENST00000344537)
|
PolyPhen Annotation |
benign; possibly_damaging; probably_damaging
|
PolyPhen Variant Effect |
benign(ENST00000511762, ENST00000355917, ENST00000515875); possibly_damaging(ENST00000462989, ENST00000338950, LRG_588t2, ENST00000622898); probably_damaging(ENST00000509674, LRG_588t1, ENST00000344537)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
TF binding region
|
Chromatin State |
Weak transcription;Strong transcription;Enhancers;Genic enhancers;Flanking Active TSS;ZNF genes & repeats
|
No. of Marker's Association Results |
1 (Positive: 0; Negative: 1; Trend: 0) |
Source |
Literature |

SNP related association results

SNP related genes (count: 1)

SNPs in LD with rs116647843 (count: 0)

SNP related eQTL (count: 1)