Variant report
| Variant | rs55917050 |
|---|---|
| Chromosome Location | chr12:41692779-41692780 |
| allele | A/C |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs17129215 | 0.81[AFR][1000 genomes] |
| rs17129216 | 0.81[AFR][1000 genomes] |
| rs59740712 | 0.82[ASN][1000 genomes] |
| rs60615123 | 0.82[ASN][1000 genomes] |
| rs60683724 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6582304 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6582305 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73117091 | 0.82[ASN][1000 genomes] |
| rs73117097 | 0.82[ASN][1000 genomes] |
| rs73120909 | 0.82[ASN][1000 genomes] |
| rs73122829 | 1.00[ASN][1000 genomes] |
| rs73122831 | 0.89[AFR][1000 genomes] |
| rs73122838 | 1.00[AFR][1000 genomes] |
| rs73122844 | 0.95[AFR][1000 genomes] |
| rs73122851 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7958277 | 0.95[AFR][1000 genomes] |
| rs7958391 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7958538 | 0.95[AFR][1000 genomes] |
| rs7961153 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7961270 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7971709 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7979212 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7980336 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv497867 | chr12:41286305-41728650 | Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv899034 | chr12:41515090-41698342 | Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv899035 | chr12:41548545-41710912 | Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv469364 | chr12:41631105-41710912 | Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
| 5 | nsv558699 | chr12:41631105-41710912 | Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
| 6 | nsv558700 | chr12:41665279-41710912 | Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41692600-41693000 | Enhancers | Rectal Smooth Muscle | rectum |
| 2 | chr12:41692600-41693200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
