Variant report
Variant | esv3347336 |
---|---|
Chromosome Location | chr6:55873756-55874230 |
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 |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs554123921 | chr6:55873786-55873787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs184285989 | chr6:55873808-55873809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs567942111 | chr6:55873822-55873823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs536637644 | chr6:55873836-55873837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs9475499 | chr6:55873886-55873887 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs143464615 | chr6:55873898-55873899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs566874988 | chr6:55873899-55873900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs570323461 | chr6:55873904-55873905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574020768 | chr6:55873940-55873941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs79010418 | chr6:55874009-55874010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs570877632 | chr6:55874012-55874013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs569319342 | chr6:55874014-55874015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs77019358 | chr6:55874027-55874028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs369815122 | chr6:55874091-55874092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554936752 | chr6:55874197-55874198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs573125156 | chr6:55874219-55874220 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs147684386 | chr6:55874220-55874221 | Weak transcription Enhancers | 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 |
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 |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Breast cancer | 21509527 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:55869600-55874200 | Weak transcription | Osteobl | bone |
2 | chr6:55869800-55874600 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
3 | chr6:55874200-55874600 | Enhancers | NHDF-Ad | bronchial |
4 | chr6:55874200-55875200 | Enhancers | Osteobl | bone |