Variant report
| Variant | esv3336979 |
|---|---|
| Chromosome Location | chr6:54180656-54180944 |
| 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 |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549186778 | chr6:54180656-54180657 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs569727546 | chr6:54180673-54180674 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201470494 | chr6:54180710-54180711 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9370287 | chr6:54180725-54180726 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs2840121 | chr6:54180753-54180754 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs574548001 | chr6:54180759-54180760 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs151253523 | chr6:54180825-54180826 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs140427476 | chr6:54180826-54180827 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs557482548 | chr6:54180851-54180852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs189799374 | chr6:54180866-54180867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs116757328 | chr6:54180884-54180885 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs577523040 | chr6:54180894-54180895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| 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 |
| Breast cancer | 22522925 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:54176600-54191800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 2 | chr6:54176600-54191800 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 3 | chr6:54178200-54188400 | Weak transcription | Fetal Intestine Small | intestine |
| 4 | chr6:54178200-54191600 | Weak transcription | Fetal Intestine Large | intestine |
| 5 | chr6:54179400-54181000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 6 | chr6:54180200-54181000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 7 | chr6:54180600-54181400 | Enhancers | NHEK | skin |
| 8 | chr6:54180800-54181000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
