Variant report
| Variant | rs11183706 |
|---|---|
| Chromosome Location | chr12:47438073-47438074 |
| allele | A/G |
| 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 | chr12:47436026..47440444-chr12:47469339..47474758,5 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139211 | Chromatin interaction |
| ENSG00000179715 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10785651 | 0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10881039 | 0.99[ASN][1000 genomes] |
| rs11183699 | 0.95[ASN][1000 genomes] |
| rs11183710 | 0.99[ASN][1000 genomes] |
| rs11183711 | 0.99[ASN][1000 genomes] |
| rs1989912 | 0.82[ASN][1000 genomes] |
| rs34142537 | 0.84[ASN][1000 genomes] |
| rs4768770 | 0.96[ASN][1000 genomes] |
| rs7134654 | 0.99[ASN][1000 genomes] |
| rs7305847 | 0.94[ASN][1000 genomes] |
| rs7956438 | 0.94[ASN][1000 genomes] |
| rs7957379 | 0.86[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs7960974 | 0.83[ASN][1000 genomes] |
| rs7971310 | 0.94[ASN][1000 genomes] |
| rs7971796 | 0.94[ASN][1000 genomes] |
| rs7972871 | 0.93[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv469368 | chr12:47374908-47675680 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 2 | nsv558784 | chr12:47374908-47675680 | Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47429400-47450000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
