Variant report
| Variant | rs12674652 |
|---|---|
| Chromosome Location | chr8:50015376-50015377 |
| 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] |
|---|---|
| rs10448011 | 0.94[EUR][1000 genomes] |
| rs12056729 | 0.94[EUR][1000 genomes] |
| rs12550346 | 0.91[EUR][1000 genomes] |
| rs13248468 | 0.94[EUR][1000 genomes] |
| rs13250382 | 0.90[EUR][1000 genomes] |
| rs13278300 | 0.92[EUR][1000 genomes] |
| rs16922692 | 0.82[ASN][1000 genomes] |
| rs16939396 | 0.90[EUR][1000 genomes] |
| rs16939398 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs16939408 | 0.90[EUR][1000 genomes] |
| rs16939444 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs16939445 | 0.92[EUR][1000 genomes] |
| rs1876718 | 0.92[EUR][1000 genomes] |
| rs2667282 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2891720 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs33961425 | 0.81[ASN][1000 genomes] |
| rs34381258 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3735973 | 0.90[EUR][1000 genomes] |
| rs4510886 | 0.94[EUR][1000 genomes] |
| rs4873311 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4873316 | 0.94[EUR][1000 genomes] |
| rs59888224 | 0.94[EUR][1000 genomes] |
| rs72640596 | 0.83[AFR][1000 genomes] |
| rs9650217 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][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 | nsv1025068 | chr8:49953397-50370208 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 2 | esv3401785 | chr8:49986448-50018640 | Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription | Chromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv3383502 | chr8:49991448-50020707 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv1023325 | chr8:49994793-50050571 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | esv1793350 | chr8:50013702-50102628 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:50008200-50015400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr8:50008200-50015600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
