Variant report
| Variant | rs12369947 |
|---|---|
| Chromosome Location | chr12:104314922-104314923 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:104314393..104320294-chr12:104321148..104324855,10 | K562 | blood: | |
| 2 | chr12:104290392..104292773-chr12:104312666..104315584,2 | K562 | blood: | |
| 3 | chr12:104313655..104316610-chr12:104321073..104323844,5 | MCF-7 | breast: | |
| 4 | chr12:104307373..104313115-chr12:104313555..104318873,5 | K562 | blood: | |
| 5 | chr12:104308000..104311397-chr12:104314818..104318186,4 | K562 | blood: | |
| 6 | chr12:104314809..104316668-chr12:104321304..104323532,2 | MCF-7 | breast: | |
| 7 | chr12:104313626..104315645-chr12:104317034..104319454,2 | K562 | blood: | |
| 8 | chr12:104312881..104315821-chr12:104362350..104364387,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000214198 | Chromatin interaction |
| ENSG00000166598 | Chromatin interaction |
| ENSG00000265072 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10745984 | 0.92[CEU][hapmap] |
| rs10778292 | 0.91[CEU][hapmap] |
| rs10861131 | 0.91[CEU][hapmap] |
| rs10861142 | 0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs10861143 | 0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs10861146 | 0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11111815 | 0.91[CEU][hapmap] |
| rs11111821 | 0.85[AFR][1000 genomes] |
| rs11111834 | 0.86[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs12302488 | 0.92[CEU][hapmap] |
| rs12371102 | 0.91[CEU][hapmap] |
| rs17034938 | 0.81[CEU][hapmap] |
| rs2033729 | 0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3812801 | 0.83[CEU][hapmap] |
| rs7964281 | 0.82[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs9308316 | 0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs9989004 | 0.91[CEU][hapmap] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv560039 | chr12:104177668-104455340 | Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:104306200-104320800 | Weak transcription | Psoas Muscle | Psoas |
