Variant report
| Variant | rs4528414 |
|---|---|
| Chromosome Location | chr12:83765069-83765070 |
| 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:21)
| rs_ID | r2[population] |
|---|---|
| rs10082793 | 0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs10778975 | 0.86[EUR][1000 genomes] |
| rs10778978 | 0.86[EUR][1000 genomes] |
| rs10862637 | 0.86[EUR][1000 genomes] |
| rs10862655 | 0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3112118 | 0.92[ASN][1000 genomes] |
| rs4262788 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4319583 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4393399 | 0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4882385 | 0.80[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs4882448 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6539734 | 0.86[EUR][1000 genomes] |
| rs6539739 | 0.86[EUR][1000 genomes] |
| rs6539740 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6539741 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7486577 | 0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7488567 | 0.86[EUR][1000 genomes] |
| rs7954434 | 0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7956512 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7959848 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7980737 | 0.86[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 | nsv521849 | chr12:83013783-83991479 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv559559 | chr12:83505512-83765069 | ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1042674 | chr12:83620899-83942628 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv899353 | chr12:83755861-83792347 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv899354 | chr12:83755861-83813669 | Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:83759400-83772200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
