Variant report
| Variant | nsv518093 |
|---|---|
| Chromosome Location | chr6:76723740-76736996 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6915062 | chr6:76723740-76723741 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs143201492 | chr6:76723742-76723743 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs544566293 | chr6:76723780-76723781 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs560142511 | chr6:76723795-76723796 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs374605851 | chr6:76723805-76723806 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs192014164 | chr6:76723926-76723927 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545918496 | chr6:76723935-76723936 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs146656929 | chr6:76724002-76724003 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577996982 | chr6:76724070-76724071 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540720313 | chr6:76724081-76724082 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs373968668 | chr6:76724087-76724088 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139414611 | chr6:76724203-76724204 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs567804580 | chr6:76724229-76724230 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs368020594 | chr6:76724269-76724270 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563134111 | chr6:76724303-76724304 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs183784742 | chr6:76724312-76724313 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs186344853 | chr6:76724338-76724339 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs201448250 | chr6:76724411-76724412 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs566898650 | chr6:76724492-76724493 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534017013 | chr6:76724522-76724523 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs552664939 | chr6:76724532-76724533 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs115750564 | chr6:76724555-76724556 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs191086029 | chr6:76724557-76724558 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs555944639 | chr6:76724583-76724584 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs182111603 | chr6:76724586-76724587 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs553023638 | chr6:76724661-76724662 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs535785268 | chr6:76724667-76724668 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs553475908 | chr6:76724684-76724685 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs572035779 | chr6:76724735-76724736 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs186799738 | chr6:76724773-76724774 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs111860896 | chr6:76724906-76724907 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs564137615 | chr6:76724941-76724942 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs577748803 | chr6:76724961-76724962 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs144128858 | chr6:76725172-76725173 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs367789071 | chr6:76725176-76725177 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs76892560 | chr6:76725200-76725201 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs370138454 | chr6:76725201-76725202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs116210819 | chr6:76725204-76725205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs12211334 | chr6:76725216-76725217 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs374287491 | chr6:76725245-76725246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs368774533 | chr6:76725246-76725247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs570565893 | chr6:76725251-76725252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs537998620 | chr6:76725255-76725256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs9447588 | chr6:76725284-76725285 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs149098408 | chr6:76725315-76725316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs535365315 | chr6:76725335-76725336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs374742513 | chr6:76725351-76725352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs374750426 | chr6:76725432-76725433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs143121035 | chr6:76725449-76725450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs192691589 | chr6:76725512-76725513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:101)
| 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 |
| 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 |
| 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 |
| Acute lymphoblastic leukemia | 21098271 | 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 |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Mental retardation | 21045960 | CNVD |
| Obesity | 21045960 | CNVD |
| learning difficulties | 21045960 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:76712600-76732800 | Weak transcription | Pancreas | Pancrea |
| 2 | chr6:76723600-76725200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr6:76723800-76724400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr6:76724000-76724600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 5 | chr6:76724000-76725000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 6 | chr6:76724200-76724800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr6:76725200-76728200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 8 | chr6:76732800-76733000 | ZNF genes & repeats | Pancreas | Pancrea |
| 9 | chr6:76735000-76736800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 10 | chr6:76735000-76737400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 11 | chr6:76735200-76736600 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 12 | chr6:76735400-76736400 | ZNF genes & repeats | Gastric | stomach |
| 13 | chr6:76735400-76736600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 14 | chr6:76735600-76736400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 15 | chr6:76735600-76736400 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 16 | chr6:76735600-76736600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 17 | chr6:76736000-76736400 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
