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)
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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 |
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 |