Variant report
| Variant | rs3885053 |
|---|---|
| Chromosome Location | chr12:40789380-40789381 |
| 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:33)
| rs_ID | r2[population] |
|---|---|
| rs10459264 | 1.00[CEU][hapmap] |
| rs10784485 | 0.85[CEU][hapmap] |
| rs10784497 | 0.85[CEU][hapmap] |
| rs10878299 | 0.85[CEU][hapmap] |
| rs10878302 | 0.85[CEU][hapmap] |
| rs10878386 | 1.00[CEU][hapmap] |
| rs10878452 | 0.87[CEU][hapmap];0.84[EUR][1000 genomes] |
| rs11175793 | 0.85[CEU][hapmap] |
| rs11175913 | 0.85[CEU][hapmap] |
| rs11175941 | 1.00[CEU][hapmap] |
| rs11175959 | 0.82[CEU][hapmap] |
| rs11175963 | 0.85[CEU][hapmap] |
| rs11175964 | 0.85[CEU][hapmap] |
| rs11176022 | 0.82[CEU][hapmap] |
| rs11176195 | 1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs11176261 | 1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs11564183 | 0.85[CEU][hapmap] |
| rs11831092 | 0.81[ASN][1000 genomes] |
| rs11836288 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs12423950 | 0.87[ASN][1000 genomes] |
| rs12426498 | 1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs12426513 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12426891 | 0.85[CEU][hapmap] |
| rs17492159 | 1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs17492201 | 0.81[AFR][1000 genomes] |
| rs17520991 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2098963 | 0.81[ASN][1000 genomes] |
| rs28365224 | 0.85[CEU][hapmap] |
| rs28365238 | 1.00[CEU][hapmap] |
| rs4318033 | 0.85[CEU][hapmap] |
| rs7308720 | 0.85[CEU][hapmap] |
| rs73101517 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73101520 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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 | nsv832377 | chr12:40704881-40855223 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv899032 | chr12:40735939-40827479 | Weak transcription ZNF genes & repeats Strong transcription Enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv558598 | chr12:40742363-40828264 | Strong transcription Weak transcription Enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv899033 | chr12:40758652-41122288 | Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| 5 | nsv1047639 | chr12:40774370-40804386 | Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40787200-40799200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
