Variant report
| Variant | rs12618253 |
|---|---|
| Chromosome Location | chr2:178794839-178794840 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | FOS | chr2:178794535-178794881 | MCF10A-Er-Src | breast: | n/a | n/a |
| 2 | TCF7L2 | chr2:178794495-178795173 | PANC-1 | pancreas: | n/a | n/a |
| 3 | GATA3 | chr2:178794309-178794844 | A549 | lung: | n/a | n/a |
| 4 | TCF12 | chr2:178794363-178794896 | A549 | lung: | n/a | n/a |
| 5 | FOXA1 | chr2:178794352-178794845 | HepG2 | liver: | n/a | chr2:178794669-178794681 |
| 6 | FOS | chr2:178794532-178794875 | MCF10A-Er-Src | breast: | n/a | n/a |
| 7 | FOXA2 | chr2:178794432-178794851 | A549 | lung: | n/a | chr2:178794669-178794681 |
| 8 | FOSL2 | chr2:178794452-178794862 | A549 | lung: | n/a | n/a |
| 9 | FOS | chr2:178794583-178794881 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:178787400..178789343-chr2:178793687..178796029,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PDE11A | TF binding region |
| ENSG00000128655 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10201731 | 0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs11899873 | 0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1405648 | 0.81[ASN][1000 genomes] |
| rs1405649 | 0.81[ASN][1000 genomes] |
| rs16865901 | 0.81[ASN][1000 genomes] |
| rs16865906 | 0.81[ASN][1000 genomes] |
| rs16865921 | 0.85[ASN][1000 genomes] |
| rs16866000 | 0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs17329531 | 0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs17330075 | 0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs17401986 | 0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1898587 | 0.81[ASN][1000 genomes] |
| rs2365899 | 0.81[ASN][1000 genomes] |
| rs2695092 | 0.82[ASN][1000 genomes] |
| rs2695742 | 0.82[ASN][1000 genomes] |
| rs3108451 | 0.95[ASN][1000 genomes] |
| rs4468852 | 0.81[ASN][1000 genomes] |
| rs55841094 | 0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs60047236 | 0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs7558482 | 0.82[ASN][1000 genomes] |
| rs7570981 | 0.94[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 | nsv533377 | chr2:178718801-178963463 | Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv1007579 | chr2:178729330-178890946 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv875451 | chr2:178748294-178953409 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 4 | nsv998304 | chr2:178756380-178924378 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv536056 | chr2:178756380-178924378 | Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:178794800-178795000 | Weak transcription | Fetal Heart | heart |
