Variant report
Variant | nsv980702 |
---|---|
Chromosome Location | chr5:98015320-98017447 |
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 | rs537146191 | chr5:98015325-98015326 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs555210983 | chr5:98015391-98015392 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs573561977 | chr5:98015421-98015422 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs76663763 | chr5:98015458-98015459 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs200319761 | chr5:98015472-98015473 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs559584442 | chr5:98015500-98015501 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs573210737 | chr5:98015523-98015524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545252599 | chr5:98015528-98015529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs545154493 | chr5:98015562-98015563 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs563539848 | chr5:98015588-98015589 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs142928571 | chr5:98015595-98015596 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549442223 | chr5:98015646-98015647 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs192242833 | chr5:98015663-98015664 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs10479227 | chr5:98015723-98015724 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs10479228 | chr5:98015731-98015732 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs565937547 | chr5:98015756-98015757 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs539748074 | chr5:98015794-98015795 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs565160759 | chr5:98015805-98015806 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs551747003 | chr5:98015815-98015816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs184306585 | chr5:98015816-98015817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs536881789 | chr5:98015818-98015819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs555413945 | chr5:98015835-98015836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs573671116 | chr5:98015843-98015844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs189517503 | chr5:98015847-98015848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs374257288 | chr5:98015896-98015897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs552552609 | chr5:98015900-98015901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs577268842 | chr5:98015903-98015904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545289737 | chr5:98015950-98015951 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs114782896 | chr5:98015993-98015994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575775084 | chr5:98016002-98016003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs542871639 | chr5:98016026-98016027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs10479229 | chr5:98016033-98016034 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs112318278 | chr5:98016050-98016051 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs546966691 | chr5:98016069-98016070 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs181739713 | chr5:98016098-98016099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532590853 | chr5:98016107-98016108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs551685169 | chr5:98016110-98016111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs6877710 | chr5:98016115-98016116 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs537216500 | chr5:98016134-98016135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs17729817 | chr5:98016158-98016159 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs567307789 | chr5:98016172-98016173 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs534412759 | chr5:98016221-98016222 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs6861926 | chr5:98016245-98016246 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs570896388 | chr5:98016249-98016250 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs372900574 | chr5:98016252-98016253 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs149782121 | chr5:98016253-98016254 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538277625 | chr5:98016281-98016282 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs160710 | chr5:98016333-98016334 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs575862978 | chr5:98016352-98016353 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs376653658 | chr5:98016381-98016382 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Testicular cancer | 18059402 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Breast cancer | 21611746 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:98015000-98016200 | Enhancers | Dnd41 | blood |
2 | chr5:98015200-98015800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr5:98015200-98016400 | Enhancers | Muscle Satellite Cultured Cells | -- |
4 | chr5:98015200-98016600 | Enhancers | HSMM | muscle |
5 | chr5:98015400-98016400 | Enhancers | NH-A | brain |
6 | chr5:98015600-98017000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr5:98015800-98016200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr5:98015800-98016400 | Enhancers | HSMMtube | muscle |
9 | chr5:98016000-98016800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
10 | chr5:98016200-98026000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |