Variant report
Variant | nsv518414 |
---|---|
Chromosome Location | chr11:32371215-32375669 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs932503 | chr11:32371215-32371216 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs571627171 | chr11:32371216-32371217 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs557739001 | chr11:32371217-32371218 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs115190490 | chr11:32371218-32371219 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs185377681 | chr11:32371220-32371221 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs567634035 | chr11:32371321-32371322 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188226025 | chr11:32371349-32371350 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs570035489 | chr11:32371371-32371372 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs556305554 | chr11:32371419-32371420 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs116716589 | chr11:32371448-32371449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs181426996 | chr11:32371457-32371458 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs530977410 | chr11:32371482-32371483 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs558835965 | chr11:32371529-32371530 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs572741494 | chr11:32371603-32371604 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs80179520 | chr11:32371619-32371620 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs143304247 | chr11:32371648-32371649 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs11031736 | chr11:32371754-32371755 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs542763624 | chr11:32371826-32371827 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs185664576 | chr11:32371912-32371913 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs150912459 | chr11:32371983-32371984 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs551642716 | chr11:32371986-32371987 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs571447945 | chr11:32372055-32372056 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs527609697 | chr11:32372089-32372090 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs36102503 | chr11:32372102-32372103 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs369289519 | chr11:32372131-32372132 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs368928792 | chr11:32372149-32372150 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs111908379 | chr11:32372190-32372191 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs536321148 | chr11:32372205-32372206 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs137876696 | chr11:32372207-32372208 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs569877412 | chr11:32372236-32372237 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs538840423 | chr11:32372256-32372257 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs546810606 | chr11:32372283-32372284 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs114473199 | chr11:32372338-32372339 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs572630848 | chr11:32372340-32372341 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs376999402 | chr11:32372358-32372359 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs183437361 | chr11:32372366-32372367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113596495 | chr11:32372370-32372371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs553459439 | chr11:32372386-32372387 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs372661550 | chr11:32372398-32372399 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs538830336 | chr11:32372403-32372404 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs573582613 | chr11:32372412-32372413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs77654583 | chr11:32372471-32372472 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs562560969 | chr11:32372486-32372487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs115256857 | chr11:32372488-32372489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs12283279 | chr11:32372489-32372490 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs113765251 | chr11:32372599-32372600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs562777271 | chr11:32372692-32372693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs547692299 | chr11:32372730-32372731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs112994276 | chr11:32372734-32372735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs186850005 | chr11:32372735-32372736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
Medulloblastoma | 16783165 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Chordoma | 18071362 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Breast cancer | 21364760 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Aniridia syndrome | 21572526 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Denys-drash syndrome | 21085971 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
WAGR syndrome | 16773131 | CNVD |
Disorders of sex development | 22290220 | CNVD |
Aniridia syndrome | 17204608 | CNVD |
Mental retardation | 17204608 | CNVD |
WAGR syndrome | 19617690 | CNVD |
genitourinary abnormalities | 17204608 | CNVD |
Breast cancer | 16397240 | CNVD |
Mental retardation | 16773131 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 17160897 | CNVD |
Cancer | 21183584 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
WAGR syndrome | 22470819 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Denys-drash syndrome | 19566914 | CNVD |
Familial wilms tumor | 19566914 | CNVD |
Frasier syndrome | 19566914 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
WAGR syndrome | 20603712 | CNVD |
Autism | 17322880 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Breast cancer | 21858162 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Wilms tumour | 17204608 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:32361000-32372400 | Enhancers | Fetal Heart | heart |
2 | chr11:32370000-32375000 | Weak transcription | Rectal Smooth Muscle | rectum |
3 | chr11:32370800-32375400 | Weak transcription | Colon Smooth Muscle | Colon |
4 | chr11:32372400-32373800 | Weak transcription | Fetal Heart | heart |
5 | chr11:32373600-32374000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
6 | chr11:32373800-32374400 | Enhancers | Fetal Heart | heart |
7 | chr11:32374000-32374200 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
8 | chr11:32374000-32374600 | Bivalent Enhancer | Fetal Muscle Leg | muscle |
9 | chr11:32374000-32375000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
10 | chr11:32375000-32375200 | Enhancers | Rectal Smooth Muscle | rectum |
11 | chr11:32375000-32375800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr11:32375200-32375400 | Enhancers | Fetal Kidney | kidney |
13 | chr11:32375200-32375600 | Weak transcription | Rectal Smooth Muscle | rectum |
14 | chr11:32375400-32376400 | Weak transcription | Fetal Kidney | kidney |
15 | chr11:32375400-32377000 | Enhancers | Colon Smooth Muscle | Colon |
16 | chr11:32375600-32377000 | Enhancers | Rectal Smooth Muscle | rectum |