Variant report
| Variant | rs9728318 |
|---|---|
| Chromosome Location | chr1:221692079-221692080 |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs1026514 | 0.88[ASN][1000 genomes] |
| rs10779436 | 0.84[ASN][1000 genomes] |
| rs10863615 | 0.84[ASN][1000 genomes] |
| rs10863617 | 0.84[ASN][1000 genomes] |
| rs10863629 | 0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs10863632 | 0.83[AFR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12043747 | 0.84[ASN][1000 genomes] |
| rs12134883 | 1.00[JPT][hapmap] |
| rs1380253 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1459229 | 0.84[ASN][1000 genomes] |
| rs1599083 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1599091 | 0.92[ASN][1000 genomes] |
| rs1858566 | 0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1993631 | 0.84[ASN][1000 genomes] |
| rs4846346 | 0.84[ASN][1000 genomes] |
| rs4846716 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs5012024 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6663387 | 0.84[ASN][1000 genomes] |
| rs6688088 | 0.80[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6699330 | 0.80[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9659064 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9662092 | 0.83[AFR][1000 genomes];0.98[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 | nsv997685 | chr1:220993527-221863416 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv535299 | chr1:220993527-221863416 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 3 | nsv873200 | chr1:221644180-221843191 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:221690800-221694600 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
