Variant report
| Variant | rs7992723 |
|---|---|
| Chromosome Location | chr13:53946802-53946803 |
| 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:28)
| rs_ID | r2[population] |
|---|---|
| rs11618497 | 0.86[ASN][1000 genomes] |
| rs1342669 | 0.87[ASN][1000 genomes] |
| rs1373273 | 0.81[ASN][1000 genomes] |
| rs1373276 | 0.87[ASN][1000 genomes] |
| rs1373281 | 0.89[ASN][1000 genomes] |
| rs1443905 | 0.87[ASN][1000 genomes] |
| rs1443908 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs1443917 | 0.84[ASN][1000 genomes] |
| rs2165985 | 0.81[ASN][1000 genomes] |
| rs2408858 | 0.84[ASN][1000 genomes] |
| rs2813573 | 0.89[ASN][1000 genomes] |
| rs4883678 | 0.86[CHB][hapmap] |
| rs4884463 | 0.80[ASN][1000 genomes] |
| rs7322098 | 0.81[ASN][1000 genomes] |
| rs7326482 | 0.81[ASN][1000 genomes] |
| rs7328151 | 0.89[ASN][1000 genomes] |
| rs7329909 | 0.83[ASN][1000 genomes] |
| rs7332332 | 0.93[ASN][1000 genomes] |
| rs7985119 | 0.87[ASN][1000 genomes] |
| rs8001044 | 0.87[ASN][1000 genomes] |
| rs8002970 | 0.87[ASN][1000 genomes] |
| rs9316613 | 0.87[ASN][1000 genomes] |
| rs9527077 | 0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9536405 | 0.87[ASN][1000 genomes] |
| rs9536406 | 0.87[ASN][1000 genomes] |
| rs9536410 | 0.84[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs9536411 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs9568848 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1050969 | chr13:53665927-54064861 | Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv1040236 | chr13:53928195-53955060 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv1051184 | chr13:53928195-53956469 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7992723 | NEK5 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
