Variant report
| Variant | rs12828655 |
|---|---|
| Chromosome Location | chr12:104648005-104648006 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:104647499..104652832-chr12:104679215..104682822,7 | K562 | blood: | |
| 2 | chr12:104645845..104648288-chr12:104651801..104654759,2 | K562 | blood: | |
| 3 | chr12:104646788..104649597-chr12:104653259..104655418,2 | K562 | blood: | |
| 4 | chr12:104641780..104644542-chr12:104647021..104649592,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000198431 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:32)
| rs_ID | r2[population] |
|---|---|
| rs11111937 | 1.00[ASN][1000 genomes] |
| rs11111942 | 1.00[ASN][1000 genomes] |
| rs11111969 | 1.00[ASN][1000 genomes] |
| rs11112015 | 1.00[ASN][1000 genomes] |
| rs11612813 | 1.00[ASN][1000 genomes] |
| rs12809773 | 1.00[ASN][1000 genomes] |
| rs12812451 | 1.00[ASN][1000 genomes] |
| rs12819539 | 1.00[ASN][1000 genomes] |
| rs12826196 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2706272 | 1.00[ASN][1000 genomes] |
| rs34309392 | 1.00[ASN][1000 genomes] |
| rs34811234 | 1.00[ASN][1000 genomes] |
| rs34863477 | 1.00[ASN][1000 genomes] |
| rs35453744 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35473944 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35653685 | 1.00[ASN][1000 genomes] |
| rs35822062 | 1.00[ASN][1000 genomes] |
| rs35844634 | 1.00[ASN][1000 genomes] |
| rs35945288 | 1.00[ASN][1000 genomes] |
| rs4964733 | 1.00[ASN][1000 genomes] |
| rs4964778 | 1.00[ASN][1000 genomes] |
| rs61937668 | 1.00[ASN][1000 genomes] |
| rs6539127 | 1.00[ASN][1000 genomes] |
| rs66554757 | 1.00[ASN][1000 genomes] |
| rs71466293 | 1.00[ASN][1000 genomes] |
| rs71466302 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7294701 | 1.00[ASN][1000 genomes] |
| rs7305137 | 1.00[ASN][1000 genomes] |
| rs7311508 | 1.00[ASN][1000 genomes] |
| rs7313536 | 1.00[ASN][1000 genomes] |
| rs7978310 | 1.00[ASN][1000 genomes] |
| rs7979945 | 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 | nsv899493 | chr12:104548613-104703228 | Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv899494 | chr12:104561521-104806232 | Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 3 | nsv1046606 | chr12:104606617-104763734 | Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| 4 | nsv1038609 | chr12:104613847-104764981 | Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| 5 | nsv541587 | chr12:104613847-104764981 | Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:104642000-104648600 | Weak transcription | Hela-S3 | cervix |
| 2 | chr12:104643000-104649000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr12:104647200-104649000 | Weak transcription | A549 | lung |
| 4 | chr12:104647400-104650000 | Weak transcription | K562 | blood |
