Variant report
| Variant | rs17444481 |
|---|---|
| Chromosome Location | chr12:40782046-40782047 |
| 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:26)
| rs_ID | r2[population] |
|---|---|
| rs1122621 | 1.00[JPT][hapmap] |
| rs11564109 | 1.00[JPT][hapmap] |
| rs11564172 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs11564245 | 0.86[EUR][1000 genomes] |
| rs1427262 | 0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17128391 | 1.00[JPT][hapmap] |
| rs17444306 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17444494 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17444709 | 0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17466886 | 1.00[ASN][1000 genomes] |
| rs17533153 | 1.00[JPT][hapmap] |
| rs17599001 | 1.00[JPT][hapmap] |
| rs17599042 | 1.00[JPT][hapmap] |
| rs17599666 | 1.00[JPT][hapmap] |
| rs2404834 | 0.91[CEU][hapmap] |
| rs2896981 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs33962975 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4767983 | 1.00[JPT][hapmap] |
| rs4768239 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4768246 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7309042 | 1.00[JPT][hapmap] |
| rs73094979 | 0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73107108 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs73107149 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7959536 | 1.00[JPT][hapmap] |
| rs7960976 | 1.00[JPT][hapmap] |
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 | chr12:40781600-40783400 | Enhancers | Placenta | Placenta |
| 2 | chr12:40782000-40783600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
