SNP Report

Basic Info
Name |
rs2270025
dbSNP
Ensembl
|
Location |
7:30594388 - 30594388(+) |
Variant Seq |
C |
Ancestral Allele |
T |
Ref Seq |
T |
Minor Allele Frequence |
0.405351 |
Annotation |
upstream_gene_variant; intron_variant; non_coding_transcript_variant
|
Variant Effect |
upstream_gene_variant(ENST00000389266, ENST00000627489, LRG_243t1, ENST00000478124, ENST00000454308); intron_variant(ENST00000584199, ENST00000578994, ENST00000583664, ENST00000582549, ENST00000579174, ENST00000582733, ENST00000581794, ENST00000584372, ENST00000426529, ENST00000581665, ENST00000580440); non_coding_transcript_variant(ENST00000584199, ENST00000578994, ENST00000583664, ENST00000582549, ENST00000579174, ENST00000582733, ENST00000581794, ENST00000584372, ENST00000426529, ENST00000581665, ENST00000580440)
|
SIFT Annotation |
deleterious_-_low_confidence; deleterious
|
SIFT Variant Effect |
deleterious_-_low_confidence(ENST00000627489, ENST00000454308); deleterious(ENST00000389266, LRG_243t1)
|
PolyPhen Annotation |
unknown; benign
|
PolyPhen Variant Effect |
unknown(ENST00000627489, ENST00000454308); benign(ENST00000389266, LRG_243t1)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
TF binding region;Chromatin interactive region
|
Chromatin State |
Active TSS;Flanking Active TSS;Transcr. at gene 5' nd 3';Bivalent/Poised TSS
|
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 rs2270025 (count: 0)

SNP related eQTL (count: 1)