Variant report
| Variant | esv2762602 |
|---|---|
| Chromosome Location | chr6:74675019-74675686 |
| 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:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4235881 | chr6:74675019-74675020 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs577340994 | chr6:74675044-74675045 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4072647 | chr6:74675120-74675121 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs375393599 | chr6:74675124-74675125 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562837956 | chr6:74675127-74675128 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs575620534 | chr6:74675214-74675215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs575155955 | chr6:74675255-74675256 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs189739074 | chr6:74675268-74675269 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs150995855 | chr6:74675273-74675274 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs541023719 | chr6:74675282-74675283 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs4072646 | chr6:74675291-74675292 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 12 | rs528264589 | chr6:74675367-74675368 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs140984743 | chr6:74675389-74675390 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs564850204 | chr6:74675410-74675411 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs532043039 | chr6:74675480-74675481 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs150221616 | chr6:74675500-74675501 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs372494209 | chr6:74675511-74675512 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs568465203 | chr6:74675540-74675541 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs181223588 | chr6:74675581-74675582 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs183967187 | chr6:74675582-74675583 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs567090579 | chr6:74675607-74675608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs12216273 | chr6:74675614-74675615 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 23 | rs116922812 | chr6:74675641-74675642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs57794710 | chr6:74675644-74675645 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs563858020 | chr6:74675648-74675649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs3003177 | chr6:74675686-74675687 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:94)
| 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 |
| 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 |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastric cancer | 17908304 | 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 |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Lung cancer | 18438408 | 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 |
| Ependymoma | 16718352 | 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 |
| Prostate cancer | 16573809 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16272173 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Ovarian cancer | 17437010 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Chondromyxoid Fibroma | 20696777 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Follicular lymphoma | 17699855 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Leukemia | 18688285 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Glioma | 21046410 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Zellweger syndrome | 21572526 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:74674000-74676400 | Enhancers | Colon Smooth Muscle | Colon |
| 2 | chr6:74674200-74675600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr6:74674200-74676200 | Enhancers | Rectal Smooth Muscle | rectum |
| 4 | chr6:74674400-74676400 | Enhancers | Fetal Muscle Leg | muscle |
| 5 | chr6:74675000-74676000 | Enhancers | Fetal Stomach | stomach |
