SNP Report
Name | rs1143633 dbSNP Ensembl | ||
---|---|---|---|
Location | 2:112832890 - 112832890(+) | ||
Variant Seq | T | ||
Ancestral Allele | C | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.310903 | ||
Annotation | downstream_gene_variant; intron_variant; non_coding_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000477398, ENST00000496280); intron_variant(ENST00000487639, ENST00000263341, ENST00000418817, ENST00000491056, ENST00000416750, ENST00000432018); non_coding_transcript_variant(ENST00000487639, ENST00000491056) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000418817, ENST00000263341, ENST00000416750, ENST00000432018) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000418817, ENST00000263341, ENST00000416750, ENST00000432018) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Genic enhancers;Transcr. at gene 5' nd 3';Enhancers;Strong transcription | ||
No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
Source | Literature |
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.