Variant report
Variant | esv3349423 |
---|---|
Chromosome Location | chr6:163293762-163298460 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs559546492 | chr6:163293867-163293868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs573291364 | chr6:163293872-163293873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs183829678 | chr6:163293911-163293912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs564952861 | chr6:163293924-163293925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs115719834 | chr6:163293926-163293927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs553539455 | chr6:163293960-163293961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs537027173 | chr6:163294058-163294059 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs189027853 | chr6:163294096-163294097 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs530273223 | chr6:163294146-163294147 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs547172789 | chr6:163294148-163294149 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs371334197 | chr6:163294238-163294239 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs71856031 | chr6:163294239-163294240 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs181465671 | chr6:163294246-163294247 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs35191237 | chr6:163294258-163294259 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs60179266 | chr6:163294259-163294260 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs62429011 | chr6:163294276-163294277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs555100876 | chr6:163294319-163294320 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs151080571 | chr6:163294330-163294331 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs573668133 | chr6:163294333-163294334 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs187357670 | chr6:163294364-163294365 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs112431133 | chr6:163294383-163294384 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs114078229 | chr6:163294448-163294449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs554942831 | chr6:163294493-163294494 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs574792643 | chr6:163294506-163294507 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs115029444 | chr6:163294515-163294516 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs76553560 | chr6:163294658-163294659 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs190612172 | chr6:163294676-163294677 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545518254 | chr6:163294693-163294694 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs564918172 | chr6:163294769-163294770 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575006327 | chr6:163294772-163294773 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs544496106 | chr6:163294778-163294779 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs561206961 | chr6:163294783-163294784 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs534464327 | chr6:163294786-163294787 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369766171 | chr6:163294805-163294806 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs35558028 | chr6:163294815-163294816 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs560769371 | chr6:163294825-163294826 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113982426 | chr6:163294866-163294867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs552295577 | chr6:163294884-163294885 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs568860155 | chr6:163294895-163294896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs531291540 | chr6:163294897-163294898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs112034169 | chr6:163294921-163294922 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs544827256 | chr6:163294944-163294945 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs548209565 | chr6:163294980-163294981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs201684895 | chr6:163295172-163295173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs547779237 | chr6:163295181-163295182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs67812561 | chr6:163295183-163295184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs57708982 | chr6:163295184-163295185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs199636549 | chr6:163295185-163295186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs57065566 | chr6:163295187-163295188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs6908068 | chr6:163295230-163295231 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Ependymoma | 16718352 | CNVD |
Gastric cancer | 17908304 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Developmental delay | 19490664 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Leukemia | 18688285 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Esophageal cancer | 21851588 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Breast cancer | 17133270 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Developmental delay | 21147756 | CNVD |
Chordoma | 18071362 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Autism | 22241247 | CNVD |
Breast cancer | 16397240 | CNVD |
Atherosclerosis | 21956041 | CNVD |
Maculopathy | 20981449 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Astrocytoma | 16205629 | CNVD |
Parkinson disease | 17160897 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:163276200-163296200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr6:163286000-163295800 | Weak transcription | Fetal Kidney | kidney |
3 | chr6:163293800-163295600 | Weak transcription | Pancreas | Pancrea |
4 | chr6:163294000-163294200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
5 | chr6:163294200-163294800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr6:163294200-163294800 | Enhancers | Adipose Nuclei | Adipose |
7 | chr6:163294800-163295000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
8 | chr6:163295000-163303800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr6:163295400-163295800 | Enhancers | Fetal Muscle Leg | muscle |
10 | chr6:163295600-163295800 | Enhancers | Spleen | Spleen |
11 | chr6:163295600-163296400 | Strong transcription | Pancreas | Pancrea |
12 | chr6:163295800-163296400 | ZNF genes & repeats | Fetal Kidney | kidney |
13 | chr6:163296000-163296400 | Weak transcription | Spleen | Spleen |
14 | chr6:163296200-163296400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
15 | chr6:163296200-163296600 | Enhancers | Liver | Liver |
16 | chr6:163296400-163301800 | Weak transcription | Pancreas | Pancrea |