Variant report
| Variant | rs1390998 |
|---|---|
| Chromosome Location | chr12:42191069-42191070 |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs1032587 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs10748317 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs10785290 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1497188 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1497191 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1546193 | 1.00[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1553033 | 0.81[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs1845976 | 1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs4595607 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4768007 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4768365 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs4768369 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4768370 | 0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4768374 | 1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs6582363 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7299055 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs73126166 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73128112 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs7962219 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs7968184 | 0.92[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs7978877 | 0.92[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs7980720 | 0.81[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs904075 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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 | nsv899043 | chr12:42058138-42313665 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv899044 | chr12:42058138-42321161 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv1047870 | chr12:42158954-42254373 | Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | lncRNA | n/a | inside rSNPs | diseases |
| 4 | nsv1041975 | chr12:42159517-42254373 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats | lncRNA | n/a | inside rSNPs | diseases |
| 5 | nsv1037646 | chr12:42160758-42254373 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | lncRNA | n/a | inside rSNPs | diseases |
| 6 | nsv1042971 | chr12:42170661-42205843 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42188600-42192600 | Enhancers | Brain Germinal Matrix | brain |
| 2 | chr12:42189200-42196600 | Weak transcription | Psoas Muscle | Psoas |
| 3 | chr12:42190000-42196600 | Weak transcription | Fetal Lung | lung |
