Variant report
Variant | nsv773 |
---|---|
Chromosome Location | chr12:73443893-73486923 |
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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Variant related genes | Relation type |
---|---|
ENSG00000136891 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs556725484 | chr12:73444645-73444646 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs376614317 | chr12:73444652-73444653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs73161436 | chr12:73444653-73444654 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs147630106 | chr12:73444657-73444658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs184821739 | chr12:73444672-73444673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs541382821 | chr12:73444678-73444679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs73161438 | chr12:73444707-73444708 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs533652077 | chr12:73444793-73444794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs117968174 | chr12:73460030-73460031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs535738417 | chr12:73460090-73460091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs184813140 | chr12:73460093-73460094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs143837879 | chr12:73460097-73460098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs545647206 | chr12:73460128-73460129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12296138 | chr12:73460190-73460191 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs576007573 | chr12:73460224-73460225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs543451702 | chr12:73460248-73460249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs561340985 | chr12:73460278-73460279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs530363165 | chr12:73460279-73460280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs548453623 | chr12:73460304-73460305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs560387931 | chr12:73460334-73460335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs527899821 | chr12:73460340-73460341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs187286947 | chr12:73460342-73460343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs200633614 | chr12:73460370-73460371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs12316852 | chr12:73460415-73460416 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs4384435 | chr12:73460431-73460432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs550238810 | chr12:73460454-73460455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs568448315 | chr12:73460470-73460471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs148084608 | chr12:73460504-73460505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs554129730 | chr12:73460509-73460510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs12296330 | chr12:73460558-73460559 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs539625014 | chr12:73460559-73460560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs143264021 | chr12:73460563-73460564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs184744859 | chr12:73460564-73460565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs375038174 | chr12:73460565-73460566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs576127593 | chr12:73460612-73460613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs369567158 | chr12:73460621-73460622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs543101406 | chr12:73460674-73460675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs549782886 | chr12:73460729-73460730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs554974824 | chr12:73460736-73460737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs189607195 | chr12:73460744-73460745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs540591575 | chr12:73460801-73460802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs180678789 | chr12:73460803-73460804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs73161463 | chr12:73460822-73460823 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs546422278 | chr12:73460858-73460859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs553387272 | chr12:73460879-73460880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs564510717 | chr12:73460882-73460883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs73161466 | chr12:73460887-73460888 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs372743858 | chr12:73460895-73460896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs542480035 | chr12:73460924-73460925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs550275449 | chr12:73460930-73460931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 21785460 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 16620391 | CNVD |
Disease | 21505450 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 17133270 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 22032731 | 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 |
Hodgkin''s lymphoma | 18641027 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Osteosarcoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:73444600-73444800 | Enhancers | Pancreas | Pancrea |
2 | chr12:73460000-73466200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr12:73466200-73466400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr12:73466200-73466400 | Genic enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
5 | chr12:73466400-73467200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
6 | chr12:73469200-73471200 | Enhancers | Liver | Liver |
7 | chr12:73473400-73473800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
8 | chr12:73481600-73482400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |