Variant report
Variant | nsv822036 |
---|---|
Chromosome Location | chr3:22280381-22286377 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs146513913 | chr3:22280435-22280436 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs558586721 | chr3:22280444-22280445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs190332130 | chr3:22280445-22280446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs182773929 | chr3:22280470-22280471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs566622066 | chr3:22280508-22280509 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs527488205 | chr3:22280523-22280524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs185640243 | chr3:22280537-22280538 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs567256997 | chr3:22280555-22280556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs139599652 | chr3:22280564-22280565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs557372039 | chr3:22280573-22280574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs561457752 | chr3:22280582-22280583 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs11927828 | chr3:22280591-22280592 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs539880031 | chr3:22280607-22280608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs557971954 | chr3:22280617-22280618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs575258347 | chr3:22280620-22280621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs190802625 | chr3:22280629-22280630 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs574961970 | chr3:22280630-22280631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs377420411 | chr3:22280674-22280675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs79433901 | chr3:22280683-22280684 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs540806706 | chr3:22280735-22280736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs183661254 | chr3:22280763-22280764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs2728951 | chr3:22280773-22280774 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs145696384 | chr3:22280776-22280777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs34537670 | chr3:22280785-22280786 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs545042316 | chr3:22280789-22280790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs534715521 | chr3:22284601-22284602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs189887955 | chr3:22284616-22284617 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs563336613 | chr3:22284657-22284658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542054937 | chr3:22284660-22284661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs375087903 | chr3:22284673-22284674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs557574442 | chr3:22284674-22284675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs7621205 | chr3:22284699-22284700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs546447181 | chr3:22284735-22284736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs112040875 | chr3:22284739-22284740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs182040826 | chr3:22284757-22284758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532465236 | chr3:22284763-22284764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs561760270 | chr3:22284797-22284798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs529023786 | chr3:22284862-22284863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs550412137 | chr3:22284886-22284887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs35647793 | chr3:22284893-22284894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs568988820 | chr3:22284935-22284936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs187040914 | chr3:22284965-22284966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs145795403 | chr3:22284969-22284970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs75311328 | chr3:22284975-22284976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs192840995 | chr3:22284999-22285000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs148989893 | chr3:22285022-22285023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs535904413 | chr3:22285024-22285025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs143805730 | chr3:22285069-22285070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs148179297 | chr3:22285087-22285088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs554103651 | chr3:22285088-22285089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 17327916 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 21062161 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Intellectual disability | 22102821 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Breast cancer | 17133270 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 20688739 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:22278800-22280400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
2 | chr3:22279200-22280400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
3 | chr3:22280400-22280800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
4 | chr3:22280600-22280800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
5 | chr3:22284600-22286200 | Weak transcription | NHDF-Ad | bronchial |
6 | chr3:22285600-22287400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
7 | chr3:22286000-22287600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
8 | chr3:22286200-22286800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
9 | chr3:22286200-22287600 | Enhancers | Muscle Satellite Cultured Cells | -- |
10 | chr3:22286200-22287600 | Enhancers | Fetal Stomach | stomach |
11 | chr3:22286200-22287600 | Enhancers | HMEC | breast |
12 | chr3:22286200-22287600 | Enhancers | NHDF-Ad | bronchial |
13 | chr3:22286200-22287600 | Enhancers | NHLF | lung |
14 | chr3:22286200-22288000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
15 | chr3:22286200-22288000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |