SNP Report

Basic Info
Name |
rs62056783
dbSNP
Ensembl
|
Location |
17:45897183 - 45897183(+) |
Variant Seq |
C |
Ancestral Allele |
G |
Ref Seq |
G |
Minor Allele Frequence |
0.0860623 |
Annotation |
non_coding_transcript_exon_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
non_coding_transcript_exon_variant(ENST00000624111); upstream_gene_variant(ENST00000579599, ENST00000579244, ENST00000634876); intron_variant(ENST00000351559, ENST00000570299, ENST00000344290, ENST00000571311, ENST00000535772, ENST00000446361, ENST00000334239, ENST00000340799, ENST00000262410); NMD_transcript_variant(ENST00000571311); non_coding_transcript_variant(ENST00000570299, ENST00000624111)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000329196)
|
PolyPhen Annotation |
benign
|
PolyPhen Variant Effect |
benign(ENST00000329196)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
TF binding region;lncRNA
|
Chromatin State |
Bivalent/Poised TSS;Flanking Bivalent TSS/Enh;Bivalent Enhancer;Enhancers;Active TSS;Flanking Active TSS;Weak transcription
|
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)

SNPs in LD with rs62056783 (count: 0)

SNP related eQTL (count: 1)