Variant report
| Variant | rs61998215 |
|---|---|
| Chromosome Location | chr2:189092694-189092695 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-DIRC1-2 | chr2:189092547-189093259 | ENSG00000231689 |
| 2 | lnc-DIRC1-2 | chr2:189091078-189093262 | NONHSAT076027 |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10171308 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10185443 | 0.93[EUR][1000 genomes] |
| rs10931345 | 0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11675685 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11680857 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11687797 | 0.91[EUR][1000 genomes] |
| rs11901438 | 0.92[EUR][1000 genomes] |
| rs11902539 | 0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12613686 | 0.92[EUR][1000 genomes] |
| rs4396678 | 0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs55901476 | 0.92[EUR][1000 genomes] |
| rs62179630 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62179642 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62179644 | 0.83[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs62179645 | 0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs62179646 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs62179648 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs62179650 | 0.92[EUR][1000 genomes] |
| rs6728462 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72903543 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs7557622 | 0.92[EUR][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 | nsv1010394 | chr2:188994398-189284092 | Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv998395 | chr2:189018246-189284092 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv431879 | chr2:189079494-189118494 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:189090400-189096200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
