Variant report
| Variant | rs9576193 |
|---|---|
| Chromosome Location | chr13:37734594-37734595 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs1537946 | 0.93[ASN][1000 genomes] |
| rs17055019 | 0.87[ASN][1000 genomes] |
| rs2323397 | 0.93[ASN][1000 genomes] |
| rs2399397 | 0.85[TSI][hapmap] |
| rs4509889 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs4943449 | 0.93[ASN][1000 genomes] |
| rs4943450 | 0.93[ASN][1000 genomes] |
| rs58001767 | 0.87[ASN][1000 genomes] |
| rs6563513 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6563516 | 0.93[ASN][1000 genomes] |
| rs7327020 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs8001995 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs938215 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs945633 | 0.87[ASN][1000 genomes] |
| rs9532007 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9603141 | 0.82[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948975 | chr13:37281203-38280430 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9576193 | FRY | cis | parietal | SCAN |
| rs9576193 | SPG20 | cis | cerebellum | SCAN |
| rs9576193 | FAM48A | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:37722400-37740600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
