Variant report
Variant | esv2510453 |
---|---|
Chromosome Location | chr6:54555535-54557066 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:54556132..54558033-chr6:54708676..54711461,2 | MCF-7 | breast: |
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 | rs528894421 | chr6:54555555-54555556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs374421476 | chr6:54555576-54555577 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs548065150 | chr6:54555579-54555580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs925054 | chr6:54555590-54555591 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs78186206 | chr6:54555628-54555629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs556455351 | chr6:54555666-54555667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs569786315 | chr6:54555722-54555723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs187749219 | chr6:54555724-54555725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs555431016 | chr6:54555767-54555768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs368585022 | chr6:54555783-54555784 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs80222287 | chr6:54555790-54555791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs925053 | chr6:54555791-54555792 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs558042962 | chr6:54555799-54555800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs193294248 | chr6:54555800-54555801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs139669910 | chr6:54555815-54555816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs925052 | chr6:54555822-54555823 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs576162280 | chr6:54555830-54555831 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs541896288 | chr6:54555844-54555845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561792165 | chr6:54555850-54555851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs145196241 | chr6:54555862-54555863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs547431645 | chr6:54555886-54555887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs564826524 | chr6:54555896-54555897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs9474962 | chr6:54555903-54555904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs925051 | chr6:54555925-54555926 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs550432480 | chr6:54555926-54555927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs9474963 | chr6:54555951-54555952 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs535594166 | chr6:54556003-54556004 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540528702 | chr6:54556010-54556011 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs147612958 | chr6:54556018-54556019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs59936460 | chr6:54556019-54556020 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs185587900 | chr6:54556027-54556028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs542871883 | chr6:54556073-54556074 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs557439834 | chr6:54556080-54556081 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs577883971 | chr6:54556154-54556155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs536929319 | chr6:54556155-54556156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs148966758 | chr6:54556180-54556181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs573496122 | chr6:54556199-54556200 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs77676356 | chr6:54556203-54556204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs200780752 | chr6:54556254-54556255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs57733393 | chr6:54556255-54556256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs397958497 | chr6:54556259-54556260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs74909658 | chr6:54556281-54556282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs142858787 | chr6:54556286-54556287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs541433642 | chr6:54556380-54556381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs201332551 | chr6:54556450-54556451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs533710315 | chr6:54556451-54556452 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs550492781 | chr6:54556452-54556453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs563914894 | chr6:54556453-54556454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs529520525 | chr6:54556454-54556455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs549552064 | chr6:54556593-54556594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Osteosarcoma | 16790693 | 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 |
Lung cancer | 18438408 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Neurocytoma | 17123091 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Breast cancer | 16608533 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Neuroblastoma | 19686582 | CNVD |
Neuroblastoma | 17289879 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 20164919 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:54554800-54555600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr6:54554800-54556200 | Enhancers | Stomach Mucosa | stomach |
3 | chr6:54556200-54557200 | Weak transcription | Stomach Mucosa | stomach |