Variant report
Variant | nsv947117 |
---|---|
Chromosome Location | chr1:80781860-80789763 |
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 | rs74879681 | chr1:80787610-80787611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs374351483 | chr1:80787612-80787613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs187746627 | chr1:80787622-80787623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs112269430 | chr1:80787633-80787634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs577440031 | chr1:80787725-80787726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs540020072 | chr1:80787784-80787785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs555896124 | chr1:80787830-80787831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576659553 | chr1:80787916-80787917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs369148267 | chr1:80787921-80787922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs542512565 | chr1:80787967-80787968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs554226338 | chr1:80788000-80788001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs192709124 | chr1:80788016-80788017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs116536961 | chr1:80788039-80788040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs559794429 | chr1:80788043-80788044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs532110078 | chr1:80788068-80788069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs182641532 | chr1:80788090-80788091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs545586604 | chr1:80788101-80788102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs76146416 | chr1:80788115-80788116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs531462203 | chr1:80788245-80788246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs116661101 | chr1:80788376-80788377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs568334010 | chr1:80788377-80788378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs538225226 | chr1:80788399-80788400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs556476933 | chr1:80788400-80788401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs201607917 | chr1:80788441-80788442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs7516278 | chr1:80788479-80788480 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs75651682 | chr1:80788491-80788492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs74625381 | chr1:80788493-80788494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs375607827 | chr1:80788502-80788503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs186960089 | chr1:80788508-80788509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs1937796 | chr1:80788515-80788516 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs192167333 | chr1:80788529-80788530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs184244222 | chr1:80788565-80788566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs1781776 | chr1:80788599-80788600 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs556048596 | chr1:80788600-80788601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs572679618 | chr1:80788669-80788670 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs541570625 | chr1:80788670-80788671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539827348 | chr1:80788691-80788692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs553392937 | chr1:80788725-80788726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs1937797 | chr1:80788770-80788771 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs146877165 | chr1:80788854-80788855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs562506498 | chr1:80788909-80788910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs528763430 | chr1:80788995-80788996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs7549987 | chr1:80789011-80789012 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs7550057 | chr1:80789037-80789038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs74097533 | chr1:80789113-80789114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs527627368 | chr1:80789127-80789128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs190666804 | chr1:80789305-80789306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs570861295 | chr1:80789311-80789312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs77002913 | chr1:80789394-80789395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs112338056 | chr1:80789423-80789424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 17133270 | CNVD |
Type 2 diabetes | 21956041 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Poland''s syndrome | 22110015 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Cancer | 22429812 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:80787600-80790000 | Weak transcription | Hela-S3 | cervix |