Variant report
| Variant | rs73279548 |
|---|---|
| Chromosome Location | chr12:40796647-40796648 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 12:40793507-40812339..12:40836437-40839614 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258167 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs17519832 | 1.00[AMR][1000 genomes] |
| rs56701518 | 1.00[AMR][1000 genomes] |
| rs57032064 | 1.00[AMR][1000 genomes] |
| rs57315777 | 1.00[AMR][1000 genomes] |
| rs58793646 | 1.00[AMR][1000 genomes] |
| rs60242724 | 1.00[AMR][1000 genomes] |
| rs73263847 | 1.00[AMR][1000 genomes] |
| rs73263851 | 1.00[AMR][1000 genomes] |
| rs73263859 | 1.00[AMR][1000 genomes] |
| rs73263869 | 1.00[AMR][1000 genomes] |
| rs73263871 | 1.00[AMR][1000 genomes] |
| rs73268078 | 1.00[AMR][1000 genomes] |
| rs73268087 | 1.00[AMR][1000 genomes] |
| rs73269827 | 1.00[AMR][1000 genomes] |
| rs73274869 | 1.00[AMR][1000 genomes] |
| rs73274870 | 1.00[AMR][1000 genomes] |
| rs73275726 | 1.00[AMR][1000 genomes] |
| rs73276871 | 1.00[AMR][1000 genomes] |
| rs73276887 | 1.00[AMR][1000 genomes] |
| rs73276892 | 1.00[AMR][1000 genomes] |
| rs73276895 | 1.00[AMR][1000 genomes] |
| rs73276896 | 1.00[AMR][1000 genomes] |
| rs73277541 | 1.00[AMR][1000 genomes] |
| rs74078731 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 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 |
| 6 | nsv558599 | chr12:40790698-40814452 | Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 6 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 |
| 2 | chr12:40793800-40799400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
