Variant report
| Variant | rs12306512 |
|---|---|
| Chromosome Location | chr12:56779823-56779824 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | FOXA1 | chr12:56779799-56779962 | T-47D | breast: | n/a | n/a |
| 2 | NFIC | chr12:56779648-56780111 | ECC-1 | luminal epithelium: | n/a | chr12:56779870-56779886 chr12:56779868-56779885 |
| 3 | FOXA2 | chr12:56779793-56779966 | HepG2 | liver: | n/a | n/a |
| 4 | FOXA1 | chr12:56779750-56779997 | HepG2 | liver: | n/a | n/a |
| 5 | NFIC | chr12:56779603-56780174 | ECC-1 | luminal epithelium: | n/a | chr12:56779870-56779886 chr12:56779868-56779885 |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000259099 | TF binding region |
| ENSG00000135473 | Chromatin interaction |
| ENSG00000259099 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs10876885 | 0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11171818 | 1.00[EUR][1000 genomes] |
| rs11171819 | 1.00[EUR][1000 genomes] |
| rs11171822 | 1.00[EUR][1000 genomes] |
| rs11575221 | 1.00[EUR][1000 genomes] |
| rs11575236 | 1.00[EUR][1000 genomes] |
| rs11830379 | 1.00[EUR][1000 genomes] |
| rs11832580 | 1.00[EUR][1000 genomes] |
| rs11833064 | 1.00[EUR][1000 genomes] |
| rs11834948 | 1.00[EUR][1000 genomes] |
| rs12312362 | 1.00[AFR][1000 genomes] |
| rs12313141 | 0.88[AFR][1000 genomes] |
| rs12318887 | 1.00[EUR][1000 genomes] |
| rs12322356 | 1.00[EUR][1000 genomes] |
| rs17118461 | 1.00[EUR][1000 genomes] |
| rs17118590 | 1.00[EUR][1000 genomes] |
| rs1918496 | 1.00[EUR][1000 genomes] |
| rs2629445 | 1.00[EUR][1000 genomes] |
| rs4301822 | 1.00[EUR][1000 genomes] |
| rs57387549 | 1.00[EUR][1000 genomes] |
| rs58349500 | 1.00[EUR][1000 genomes] |
| rs59286728 | 1.00[EUR][1000 genomes] |
| rs61733171 | 1.00[EUR][1000 genomes] |
| rs61733875 | 1.00[EUR][1000 genomes] |
| rs6581093 | 1.00[EUR][1000 genomes] |
| rs72478990 | 1.00[EUR][1000 genomes] |
| rs73324353 | 1.00[EUR][1000 genomes] |
| rs73324358 | 1.00[EUR][1000 genomes] |
| rs74094726 | 1.00[EUR][1000 genomes] |
| rs7954200 | 1.00[EUR][1000 genomes] |
| rs7962107 | 1.00[EUR][1000 genomes] |
| rs7975405 | 1.00[EUR][1000 genomes] |
| rs7977692 | 1.00[EUR][1000 genomes] |
| rs7979812 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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 | nsv1043622 | chr12:56571476-56974448 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 95 gene(s) | inside rSNPs | diseases |
| 2 | nsv541500 | chr12:56571476-56974448 | Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 95 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:56770800-56780800 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr12:56779600-56780000 | Enhancers | HepG2 | liver |
| 3 | chr12:56779600-56781600 | Enhancers | K562 | blood |
| 4 | chr12:56779800-56781400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
