SNP Report
Name | rs2746073 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:192810097 - 192810097(+) | ||
Variant Seq | A | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.250799 | ||
Annotation | intron_variant; non_coding_transcript_variant | ||
Variant Effect | intron_variant(ENST00000483295, ENST00000235382, ENST00000464302, ENST00000487236); non_coding_transcript_variant(ENST00000483295, ENST00000464302, ENST00000487236) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000235382) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000235382) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Active TSS;Enhancers;Weak transcription;Flanking Active TSS;Transcr. at gene 5' nd 3';ZNF genes & repeats;Bivalent Enhancer;Bivalent/Poised TSS | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; 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.