Variant report
Variant | rs2033730 |
---|---|
Chromosome Location | chr12:104296367-104296368 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:104295034..104297157-chr12:104335931..104337836,2 | K562 | blood: | |
2 | chr12:104293129..104295287-chr12:104295560..104297769,2 | K562 | blood: | |
3 | chr12:104294085..104296480-chr12:104308577..104310101,2 | K562 | blood: | |
4 | chr12:104296301..104297835-chr12:104301480..104303235,2 | K562 | blood: | |
5 | chr12:104296301..104298365-chr12:104301480..104303104,2 | K562 | blood: | |
6 | chr12:104289438..104292235-chr12:104295462..104297467,2 | K562 | blood: | |
7 | chr12:104294934..104297771-chr12:104321554..104323667,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000166598 | Chromatin interaction |
ENSG00000214198 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10745982 | 0.91[ASN][1000 genomes] |
rs10745983 | 0.92[ASN][1000 genomes] |
rs10745986 | 0.99[ASN][1000 genomes] |
rs10745987 | 0.99[ASN][1000 genomes] |
rs10745988 | 0.99[ASN][1000 genomes] |
rs10745989 | 0.90[ASN][1000 genomes] |
rs10745990 | 0.93[ASN][1000 genomes] |
rs10778291 | 0.94[ASN][1000 genomes] |
rs10778293 | 0.92[ASN][1000 genomes] |
rs10778294 | 0.92[ASN][1000 genomes] |
rs10778295 | 0.86[ASN][1000 genomes] |
rs10778297 | 0.99[ASN][1000 genomes] |
rs10778298 | 0.99[ASN][1000 genomes] |
rs10778299 | 0.99[ASN][1000 genomes] |
rs10778300 | 0.96[ASN][1000 genomes] |
rs10778301 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10778302 | 0.98[ASN][1000 genomes] |
rs10778303 | 0.99[ASN][1000 genomes] |
rs10778304 | 0.99[ASN][1000 genomes] |
rs10861126 | 0.96[ASN][1000 genomes] |
rs10861128 | 0.94[ASN][1000 genomes] |
rs10861129 | 0.92[ASN][1000 genomes] |
rs10861134 | 0.99[ASN][1000 genomes] |
rs10861135 | 0.99[ASN][1000 genomes] |
rs10861136 | 0.87[ASN][1000 genomes] |
rs10861137 | 0.99[ASN][1000 genomes] |
rs10861138 | 0.83[ASN][1000 genomes] |
rs10861139 | 0.99[ASN][1000 genomes] |
rs10861140 | 0.99[ASN][1000 genomes] |
rs11111822 | 0.94[ASN][1000 genomes] |
rs11111823 | 0.99[ASN][1000 genomes] |
rs11111824 | 0.99[ASN][1000 genomes] |
rs11111827 | 0.96[ASN][1000 genomes] |
rs11111828 | 0.86[ASN][1000 genomes] |
rs11613427 | 0.99[ASN][1000 genomes] |
rs1165596 | 0.94[ASN][1000 genomes] |
rs1165597 | 0.94[ASN][1000 genomes] |
rs1165598 | 0.91[ASN][1000 genomes] |
rs1185985 | 0.94[ASN][1000 genomes] |
rs12312978 | 0.94[ASN][1000 genomes] |
rs1583599 | 0.92[ASN][1000 genomes] |
rs1595338 | 0.92[ASN][1000 genomes] |
rs1595339 | 0.96[ASN][1000 genomes] |
rs2196614 | 0.92[ASN][1000 genomes] |
rs2248382 | 0.94[ASN][1000 genomes] |
rs2374350 | 0.96[ASN][1000 genomes] |
rs2374351 | 0.96[ASN][1000 genomes] |
rs2374352 | 0.94[ASN][1000 genomes] |
rs2374353 | 0.92[ASN][1000 genomes] |
rs2439622 | 0.97[ASN][1000 genomes] |
rs2576950 | 0.92[ASN][1000 genomes] |
rs2576957 | 0.96[ASN][1000 genomes] |
rs2576958 | 0.96[ASN][1000 genomes] |
rs2576960 | 0.97[ASN][1000 genomes] |
rs2576961 | 0.97[ASN][1000 genomes] |
rs2576962 | 0.97[ASN][1000 genomes] |
rs2576963 | 0.94[ASN][1000 genomes] |
rs2576964 | 0.94[ASN][1000 genomes] |
rs2576965 | 0.94[ASN][1000 genomes] |
rs2576967 | 0.98[ASN][1000 genomes] |
rs2583236 | 0.99[ASN][1000 genomes] |
rs2583240 | 0.94[ASN][1000 genomes] |
rs2583241 | 0.94[ASN][1000 genomes] |
rs2583242 | 0.94[ASN][1000 genomes] |
rs2583243 | 0.97[ASN][1000 genomes] |
rs2583245 | 0.97[ASN][1000 genomes] |
rs2583246 | 0.97[ASN][1000 genomes] |
rs2583247 | 0.96[ASN][1000 genomes] |
rs2583248 | 0.92[ASN][1000 genomes] |
rs2583249 | 0.85[ASN][1000 genomes] |
rs2583250 | 0.83[ASN][1000 genomes] |
rs2888809 | 0.96[ASN][1000 genomes] |
rs2888810 | 0.96[ASN][1000 genomes] |
rs34978042 | 0.87[ASN][1000 genomes] |
rs3850016 | 0.99[ASN][1000 genomes] |
rs3850017 | 0.99[ASN][1000 genomes] |
rs3850018 | 0.99[ASN][1000 genomes] |
rs3850019 | 0.99[ASN][1000 genomes] |
rs3850020 | 0.95[ASN][1000 genomes] |
rs4316574 | 0.92[ASN][1000 genomes] |
rs4488278 | 0.92[ASN][1000 genomes] |
rs4491322 | 0.99[ASN][1000 genomes] |
rs4511355 | 0.99[ASN][1000 genomes] |
rs4556622 | 0.92[ASN][1000 genomes] |
rs4964118 | 0.99[ASN][1000 genomes] |
rs4964308 | 0.99[ASN][1000 genomes] |
rs4964322 | 0.99[ASN][1000 genomes] |
rs4964323 | 0.99[ASN][1000 genomes] |
rs4964326 | 0.98[ASN][1000 genomes] |
rs4964327 | 0.99[ASN][1000 genomes] |
rs4964328 | 0.99[ASN][1000 genomes] |
rs4964329 | 0.99[ASN][1000 genomes] |
rs4964330 | 0.99[ASN][1000 genomes] |
rs56205268 | 0.83[ASN][1000 genomes] |
rs6539109 | 0.92[ASN][1000 genomes] |
rs6539110 | 0.99[ASN][1000 genomes] |
rs7136272 | 0.96[ASN][1000 genomes] |
rs7136297 | 0.96[ASN][1000 genomes] |
rs7138145 | 0.99[ASN][1000 genomes] |
rs7138345 | 0.99[ASN][1000 genomes] |
rs7138361 | 0.99[ASN][1000 genomes] |
rs728165 | 0.96[ASN][1000 genomes] |
rs728166 | 0.83[ASN][1000 genomes] |
rs7294443 | 0.96[ASN][1000 genomes] |
rs7295172 | 0.96[ASN][1000 genomes] |
rs7295268 | 0.96[ASN][1000 genomes] |
rs7295285 | 0.96[ASN][1000 genomes] |
rs7295499 | 0.94[ASN][1000 genomes] |
rs7295782 | 0.83[ASN][1000 genomes] |
rs7298496 | 0.99[ASN][1000 genomes] |
rs7298653 | 0.99[ASN][1000 genomes] |
rs7298655 | 0.96[ASN][1000 genomes] |
rs7299349 | 0.99[ASN][1000 genomes] |
rs7301439 | 0.96[ASN][1000 genomes] |
rs7310988 | 0.96[ASN][1000 genomes] |
rs7311473 | 0.96[ASN][1000 genomes] |
rs7312936 | 0.94[ASN][1000 genomes] |
rs7314790 | 0.96[ASN][1000 genomes] |
rs73175882 | 0.83[ASN][1000 genomes] |
rs7488952 | 0.94[ASN][1000 genomes] |
rs7956005 | 0.99[ASN][1000 genomes] |
rs7956297 | 0.99[ASN][1000 genomes] |
rs7957862 | 0.99[ASN][1000 genomes] |
rs7963412 | 0.99[ASN][1000 genomes] |
rs7964542 | 0.96[ASN][1000 genomes] |
rs7964654 | 0.96[ASN][1000 genomes] |
rs7967501 | 0.94[ASN][1000 genomes] |
rs7970923 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7971070 | 0.94[ASN][1000 genomes] |
rs7971105 | 0.99[ASN][1000 genomes] |
rs7979423 | 0.93[ASN][1000 genomes] |
rs7979748 | 0.81[ASN][1000 genomes] |
rs7979749 | 0.85[ASN][1000 genomes] |
rs878125 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs878126 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9888379 | 0.96[ASN][1000 genomes] |
rs9943750 | 0.87[ASN][1000 genomes] |
rs9943761 | 0.99[ASN][1000 genomes] |
rs9943762 | 0.99[ASN][1000 genomes] |
rs9943812 | 0.99[ASN][1000 genomes] |
rs9943844 | 0.99[ASN][1000 genomes] |
rs9988931 | 0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv34031 | chr12:104114277-104298546 | Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
2 | 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 | chr12:104284000-104299600 | Weak transcription | GM12878-XiMat | blood |
2 | chr12:104288400-104300000 | Weak transcription | Brain Hippocampus Middle | brain |
3 | chr12:104294200-104298600 | Enhancers | Fetal Thymus | thymus |
4 | chr12:104294200-104299000 | Enhancers | Thymus | Thymus |
5 | chr12:104295600-104297000 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
6 | chr12:104295600-104299000 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
7 | chr12:104295600-104299000 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
8 | chr12:104295600-104299200 | Enhancers | Primary T helper cells fromperipheralblood | blood |
9 | chr12:104295800-104297600 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
10 | chr12:104295800-104298200 | Enhancers | Primary T cells fromperipheralblood | blood |
11 | chr12:104295800-104303000 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
12 | chr12:104295800-104303200 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
13 | chr12:104295800-104303800 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
14 | chr12:104296000-104297000 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |
15 | chr12:104296000-104298400 | Enhancers | Primary T cells from cord blood | blood |
16 | chr12:104296000-104301400 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
17 | chr12:104296200-104296800 | Weak transcription | Spleen | Spleen |