Variant report
Variant | nsv8948 |
---|---|
Chromosome Location | chr12:33967990-33979456 |
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 | rs370089765 | chr12:33972422-33972423 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs77083999 | chr12:33972442-33972443 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143736027 | chr12:33972529-33972530 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs192079957 | chr12:33972533-33972534 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs138308642 | chr12:33972537-33972538 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs539588753 | chr12:33972547-33972548 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs572074067 | chr12:33972555-33972556 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541046643 | chr12:33972578-33972579 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs559965939 | chr12:33972589-33972590 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs142597496 | chr12:33972612-33972613 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs185359267 | chr12:33972650-33972651 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs764395 | chr12:33972670-33972671 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
13 | rs554168293 | chr12:33972671-33972672 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs577138242 | chr12:33972688-33972689 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs572470344 | chr12:33972689-33972690 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551491163 | chr12:33972729-33972730 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs190605604 | chr12:33972730-33972731 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs146005854 | chr12:33972737-33972738 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs534889543 | chr12:33972753-33972754 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs567918853 | chr12:33972764-33972765 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs113496102 | chr12:33972765-33972766 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs11052938 | chr12:33972777-33972778 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs113974854 | chr12:33977853-33977854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs563996513 | chr12:33977902-33977903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs142957363 | chr12:33978010-33978011 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs74981652 | chr12:33978100-33978101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs560320729 | chr12:33978185-33978186 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs528965135 | chr12:33978211-33978212 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs78550192 | chr12:33978246-33978247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs146549543 | chr12:33978254-33978255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531283837 | chr12:33978285-33978286 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs574173511 | chr12:33978293-33978294 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs551406508 | chr12:33978299-33978300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs571961389 | chr12:33978330-33978331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs141167693 | chr12:33978401-33978402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs189433998 | chr12:33978402-33978403 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs544856260 | chr12:33978426-33978427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs371720333 | chr12:33978442-33978443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs566396559 | chr12:33978478-33978479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs373602182 | chr12:33978484-33978485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs191265812 | chr12:33978501-33978502 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs183756423 | chr12:33978542-33978543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs375147241 | chr12:33978544-33978545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs113125355 | chr12:33978563-33978564 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs140331540 | chr12:33978602-33978603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs538635908 | chr12:33978686-33978687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs571844718 | chr12:33978705-33978706 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs11052943 | chr12:33978713-33978714 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs150343576 | chr12:33978728-33978729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs540169954 | chr12:33978736-33978737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Testicular cancer | 18059402 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | 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 |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cancer | 21129771 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chordoma | 18071362 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:33972400-33972800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr12:33977800-33979000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
3 | chr12:33978000-33979200 | Enhancers | HMEC | breast |
4 | chr12:33978000-33979400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
5 | chr12:33978400-33978800 | Enhancers | HSMM | muscle |
6 | chr12:33979000-33979800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
7 | chr12:33979000-33980800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
8 | chr12:33979200-33983000 | Weak transcription | HMEC | breast |