Variant report
| Variant | rs7248956 |
|---|---|
| Chromosome Location | chr19:42183803-42183804 |
| allele | C/G |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs1005340 | 0.83[ASN][1000 genomes] |
| rs1015758 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs10407999 | 0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10409040 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs10417599 | 0.89[EUR][1000 genomes] |
| rs10417970 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10418202 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11083636 | 0.82[AMR][1000 genomes] |
| rs1122493 | 0.83[EUR][1000 genomes] |
| rs1860328 | 0.87[EUR][1000 genomes] |
| rs2016070 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2016082 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2052080 | 0.83[EUR][1000 genomes] |
| rs2191137 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4426458 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4802126 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs4803494 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4803495 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4803501 | 0.84[ASN][1000 genomes] |
| rs6508988 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7248447 | 0.98[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7249800 | 0.84[ASN][1000 genomes] |
| rs8106661 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs8110064 | 0.88[EUR][1000 genomes] |
| rs9304598 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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 | esv3319146 | chr19:42082639-42212929 | Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | esv3319147 | chr19:42082742-42212770 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | esv3422975 | chr19:42106166-42212774 | Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 4 | nsv522854 | chr19:42120283-42931004 | Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 104 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:42178600-42185800 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 2 | chr19:42182000-42185800 | Weak transcription | Colonic Mucosa | Colon |
