Variant report
| Variant | rs4763057 |
|---|---|
| Chromosome Location | chr12:63492434-63492435 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:63461645..63464045-chr12:63491435..63493739,2 | MCF-7 | breast: | |
| 2 | chr12:63491617..63494128-chr12:64615499..64617059,2 | K562 | blood: | |
| 3 | chr12:63327612..63330276-chr12:63491090..63493738,2 | MCF-7 | breast: | |
| 4 | chr12:63491029..63492639-chr12:64172273..64174995,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000243024 | Chromatin interaction |
| ENSG00000111110 | Chromatin interaction |
| ENSG00000252660 | Chromatin interaction |
| ENSG00000118600 | Chromatin interaction |
| ENSG00000174206 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10747980 | 0.86[ASN][1000 genomes] |
| rs10747981 | 0.86[ASN][1000 genomes] |
| rs10747982 | 0.86[ASN][1000 genomes] |
| rs10877954 | 0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11174774 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11830424 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2220879 | 0.86[ASN][1000 genomes] |
| rs6581465 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs73132832 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73132836 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs983452 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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 | esv3415227 | chr12:63228121-63591615 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv1046836 | chr12:63392391-64377169 | Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
| 3 | esv2751108 | chr12:63445933-63503952 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv469592 | chr12:63486510-63679139 | Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 5 | nsv482578 | chr12:63486510-63679139 | Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:63488200-63492600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr12:63492400-63493400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
