Variant report
| Variant | rs10064080 |
|---|---|
| Chromosome Location | chr5:112280587-112280588 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs10515450 | 0.96[EUR][1000 genomes] |
| rs12188113 | 0.91[EUR][1000 genomes] |
| rs13354064 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs13360667 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs17135193 | 0.85[ASN][1000 genomes] |
| rs17553240 | 0.96[EUR][1000 genomes] |
| rs1833560 | 0.80[ASN][1000 genomes] |
| rs28635838 | 0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs28789211 | 0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3892986 | 0.86[ASN][1000 genomes] |
| rs3962814 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs4145650 | 0.94[EUR][1000 genomes] |
| rs56364425 | 0.94[EUR][1000 genomes] |
| rs57749964 | 0.90[ASN][1000 genomes] |
| rs58775131 | 0.88[ASN][1000 genomes] |
| rs59349522 | 0.85[ASN][1000 genomes] |
| rs6864647 | 0.83[ASN][1000 genomes] |
| rs728344 | 0.86[ASN][1000 genomes] |
| rs728347 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs73227370 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs73227382 | 0.90[ASN][1000 genomes] |
| rs73227383 | 0.86[ASN][1000 genomes] |
| rs73789251 | 0.99[EUR][1000 genomes] |
| rs73789266 | 0.94[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1029271 | chr5:112113308-112325943 | Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv599394 | chr5:112185491-112446323 | Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 3 | nsv1019756 | chr5:112242315-112325943 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 4 | esv2763866 | chr5:112254282-112284223 | Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:112258400-112287400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
