Variant report
| Variant | rs980785 |
|---|---|
| Chromosome Location | chr12:74806475-74806476 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:74806359..74807259-chr12:75040526..75041195,3 | MCF-7 | breast: | |
| 2 | chr12:74806364..74807139-chr12:74930822..74931570,3 | MCF-7 | breast: | |
| 3 | chr12:74415389..74416204-chr12:74806037..74807059,3 | MCF-7 | breast: | |
| 4 | chr12:74805449..74807207-chr12:74930003..74932862,2 | K562 | blood: | |
| 5 | chr12:74329268..74329785-chr12:74806142..74806934,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257386 | Chromatin interaction |
| ENSG00000253719 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:45)
| rs_ID | r2[population] |
|---|---|
| rs10506691 | 1.00[EUR][1000 genomes] |
| rs11179988 | 1.00[EUR][1000 genomes] |
| rs11179989 | 1.00[EUR][1000 genomes] |
| rs12299538 | 1.00[EUR][1000 genomes] |
| rs12300000 | 1.00[EUR][1000 genomes] |
| rs12302448 | 1.00[EUR][1000 genomes] |
| rs12304380 | 1.00[EUR][1000 genomes] |
| rs12307332 | 1.00[EUR][1000 genomes] |
| rs12309066 | 1.00[EUR][1000 genomes] |
| rs12309372 | 1.00[EUR][1000 genomes] |
| rs12317803 | 1.00[EUR][1000 genomes] |
| rs12318521 | 1.00[EUR][1000 genomes] |
| rs12320395 | 1.00[EUR][1000 genomes] |
| rs12322704 | 1.00[EUR][1000 genomes] |
| rs1493814 | 1.00[EUR][1000 genomes] |
| rs1493815 | 1.00[EUR][1000 genomes] |
| rs1493817 | 1.00[EUR][1000 genomes] |
| rs1522126 | 1.00[EUR][1000 genomes] |
| rs17113226 | 1.00[EUR][1000 genomes] |
| rs17113816 | 1.00[EUR][1000 genomes] |
| rs17113895 | 1.00[EUR][1000 genomes] |
| rs1982597 | 0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2641504 | 1.00[EUR][1000 genomes] |
| rs2641506 | 1.00[EUR][1000 genomes] |
| rs59771966 | 1.00[EUR][1000 genomes] |
| rs59917367 | 1.00[EUR][1000 genomes] |
| rs60316938 | 1.00[EUR][1000 genomes] |
| rs7133693 | 0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7315551 | 1.00[EUR][1000 genomes] |
| rs73335503 | 1.00[EUR][1000 genomes] |
| rs73350030 | 1.00[EUR][1000 genomes] |
| rs73350835 | 1.00[EUR][1000 genomes] |
| rs73350842 | 1.00[EUR][1000 genomes] |
| rs73350868 | 1.00[EUR][1000 genomes] |
| rs73350901 | 1.00[EUR][1000 genomes] |
| rs73351333 | 1.00[EUR][1000 genomes] |
| rs73351746 | 1.00[EUR][1000 genomes] |
| rs73352806 | 1.00[EUR][1000 genomes] |
| rs73352828 | 1.00[EUR][1000 genomes] |
| rs74105463 | 1.00[EUR][1000 genomes] |
| rs7955373 | 1.00[EUR][1000 genomes] |
| rs7961059 | 1.00[EUR][1000 genomes] |
| rs7971410 | 1.00[EUR][1000 genomes] |
| rs7973162 | 1.00[EUR][1000 genomes] |
| rs9919749 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1039468 | chr12:74080586-75000246 | Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 2 | nsv428595 | chr12:74679884-74858160 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv1052996 | chr12:74710909-74891621 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv541540 | chr12:74710909-74891621 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 5 | nsv559413 | chr12:74754590-74924819 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 6 | nsv983440 | chr12:74798518-74823611 | Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:74796600-74807200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr12:74796600-74807400 | Weak transcription | Brain Cingulate Gyrus | brain |
| 3 | chr12:74800600-74807400 | Weak transcription | Brain Hippocampus Middle | brain |
| 4 | chr12:74806200-74806600 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 5 | chr12:74806400-74806600 | Enhancers | A549 | lung |
