Variant report
Variant | nsv933081 |
---|---|
Chromosome Location | chr6:102124766-102130637 |
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 | rs189445941 | chr6:102125242-102125243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs548413508 | chr6:102125247-102125248 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs181553221 | chr6:102125273-102125274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs186024288 | chr6:102125298-102125299 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs533915412 | chr6:102125302-102125303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs142130866 | chr6:102125328-102125329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs570440180 | chr6:102125343-102125344 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs552252010 | chr6:102125375-102125376 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs538096013 | chr6:102125438-102125439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs531892588 | chr6:102125484-102125485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs556499678 | chr6:102125498-102125499 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs151164144 | chr6:102125504-102125505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs535631826 | chr6:102125515-102125516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs79332371 | chr6:102125561-102125562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs190030274 | chr6:102125567-102125568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs540737098 | chr6:102125576-102125577 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs558639972 | chr6:102125613-102125614 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs577173031 | chr6:102125628-102125629 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs10872739 | chr6:102125670-102125671 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs548488570 | chr6:102125676-102125677 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs568393085 | chr6:102125700-102125701 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs9498667 | chr6:102125724-102125725 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs34108258 | chr6:102125745-102125746 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs541996423 | chr6:102125749-102125750 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs553652850 | chr6:102125810-102125811 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs560756888 | chr6:102125827-102125828 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs181104892 | chr6:102125832-102125833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs570638521 | chr6:102125843-102125844 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs538714233 | chr6:102125856-102125857 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs570304555 | chr6:102125869-102125870 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531325072 | chr6:102125968-102125969 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs186401627 | chr6:102126003-102126004 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs190964437 | chr6:102126022-102126023 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs6900995 | chr6:102126026-102126027 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs2852563 | chr6:102126033-102126034 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs544762526 | chr6:102126038-102126039 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs533991633 | chr6:102126095-102126096 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs556751676 | chr6:102126231-102126232 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs542104652 | chr6:102126248-102126249 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182397016 | chr6:102126249-102126250 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs186427656 | chr6:102126293-102126294 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs147960209 | chr6:102126304-102126305 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs574760637 | chr6:102126311-102126312 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs542133090 | chr6:102126324-102126325 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs75182156 | chr6:102126407-102126408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs527887739 | chr6:102126410-102126411 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs35005439 | chr6:102126448-102126449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs117903297 | chr6:102126457-102126458 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs564194868 | chr6:102126458-102126459 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs542533978 | chr6:102126461-102126462 | Weak transcription Enhancers | 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 |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Autism | 22495311 | 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 |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
lymphocytic leukemia | 21291569 | 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 |
Breast cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | 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 |
Lung adenocarcinoma | 21935476 | 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 |
Burkitt''s lymphoma | 20823134 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
Developmental delay | 19490664 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 21785460 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Developmental delay | 21147756 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Obesity | 21045960 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 16461572 | CNVD |
Neurocytoma | 17123091 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Autism | 22543975 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:102125200-102125600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr6:102125400-102125800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
3 | chr6:102125600-102129000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr6:102125800-102126800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
5 | chr6:102125800-102130400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
6 | chr6:102126400-102126800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
7 | chr6:102126800-102129600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
8 | chr6:102126800-102129600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
9 | chr6:102129600-102130000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr6:102129600-102130400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
11 | chr6:102129600-102130600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
12 | chr6:102129600-102130800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
13 | chr6:102129600-102130800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
14 | chr6:102130000-102130400 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
15 | chr6:102130000-102130600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
16 | chr6:102130400-102130800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |