SNP Report
Basic Info
| Name |
rs4722992
dbSNP
Ensembl
|
| Location |
7:30586110 - 30586110(+) |
| Variant Seq |
T |
| Ancestral Allele |
C |
| Ref Seq |
C |
| Minor Allele Frequence |
0.404952 |
| Annotation |
upstream_gene_variant; intron_variant; non_coding_transcript_variant
|
| Variant Effect |
upstream_gene_variant(ENST00000454922); intron_variant(ENST00000580440, ENST00000582733, ENST00000584372, ENST00000584199, ENST00000581794, ENST00000581665, ENST00000582549, ENST00000583664, ENST00000579174, ENST00000426529, ENST00000578994); non_coding_transcript_variant(ENST00000580440, ENST00000582733, ENST00000584372, ENST00000584199, ENST00000581794, ENST00000581665, ENST00000582549, ENST00000583664, ENST00000579174, ENST00000426529, ENST00000578994)
|
| SIFT Annotation |
tolerated
|
| SIFT Variant Effect |
tolerated(ENST00000275428, ENST00000426081, ENST00000409436, ENST00000598361)
|
| PolyPhen Annotation |
benign; probably_damaging
|
| PolyPhen Variant Effect |
benign(ENST00000409436); probably_damaging(ENST00000275428, ENST00000426081, ENST00000598361)
|
| rSNP? |
Yes
Link in rVarBase
|
| Related Regulatory Elements |
TF binding region
|
| Chromatin State |
Weak transcription;Strong transcription;Enhancers;Genic enhancers
|
| No. of Marker's Association Results |
0 (Positive: 0; Negative: 0; Trend: 0) |
| Source |
LD-proxy |
SNP related association results
SNP related genes (count: 0)
SNPs in LD with rs4722992 (count: 0)
SNP related eQTL (count: 1)
