Variant report
| Variant | rs2708478 |
|---|---|
| Chromosome Location | chr12:40558661-40558662 |
| allele | A/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:38)
| rs_ID | r2[population] |
|---|---|
| rs10878123 | 0.80[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs10878208 | 0.92[ASN][1000 genomes] |
| rs11175256 | 0.80[EUR][1000 genomes] |
| rs11175260 | 0.80[EUR][1000 genomes] |
| rs11175332 | 0.81[ASN][1000 genomes] |
| rs11175371 | 0.81[ASN][1000 genomes] |
| rs11175401 | 0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11175405 | 0.96[ASN][1000 genomes] |
| rs11175422 | 0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs11175458 | 0.86[ASN][1000 genomes] |
| rs11175540 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12581285 | 0.80[EUR][1000 genomes] |
| rs12581617 | 0.89[ASN][1000 genomes] |
| rs1491922 | 0.92[ASN][1000 genomes] |
| rs1491923 | 0.92[ASN][1000 genomes] |
| rs1491924 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1491925 | 0.96[ASN][1000 genomes] |
| rs1491942 | 0.83[ASN][1000 genomes] |
| rs17443199 | 0.84[ASN][1000 genomes] |
| rs17458613 | 0.80[EUR][1000 genomes] |
| rs17461429 | 0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs17518546 | 0.80[EUR][1000 genomes] |
| rs2046931 | 0.92[ASN][1000 genomes] |
| rs2253736 | 0.85[AMR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2638224 | 0.86[ASN][1000 genomes] |
| rs2638244 | 0.94[ASN][1000 genomes] |
| rs2638247 | 0.96[ASN][1000 genomes] |
| rs2638250 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2638268 | 0.91[ASN][1000 genomes] |
| rs2638269 | 0.91[ASN][1000 genomes] |
| rs2638270 | 0.81[ASN][1000 genomes] |
| rs2638271 | 0.91[ASN][1000 genomes] |
| rs2708463 | 0.91[ASN][1000 genomes] |
| rs2708465 | 0.94[ASN][1000 genomes] |
| rs28365179 | 0.80[EUR][1000 genomes] |
| rs72644819 | 0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7310104 | 0.92[ASN][1000 genomes] |
| rs949640 | 0.80[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv558596 | chr12:40413698-40591117 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv899030 | chr12:40509341-40580440 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv899031 | chr12:40520684-40580440 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv1045516 | chr12:40543200-40589557 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | n/a |
| 5 | esv3398206 | chr12:40556364-40581392 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40557400-40564600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:40558600-40559400 | Enhancers | Liver | Liver |
