Variant report
Variant | esv2451960 |
---|---|
Chromosome Location | chr12:72356020-72358932 |
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 | rs573738719 | chr12:72356028-72356029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs539494511 | chr12:72356103-72356104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs566317896 | chr12:72356141-72356142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs145970505 | chr12:72356225-72356226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs191876171 | chr12:72356229-72356230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs570339069 | chr12:72356267-72356268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs537019382 | chr12:72356309-72356310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs7299582 | chr12:72356314-72356315 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs61926466 | chr12:72356342-72356343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574029499 | chr12:72356348-72356349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs115785658 | chr12:72356363-72356364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs552738272 | chr12:72356406-72356407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs184675016 | chr12:72356413-72356414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs139656901 | chr12:72356480-72356481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs7299528 | chr12:72356485-72356486 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs545339611 | chr12:72356497-72356498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs188760274 | chr12:72356503-72356504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs11179007 | chr12:72356618-72356619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs575630890 | chr12:72356619-72356620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs11179008 | chr12:72356626-72356627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs12829796 | chr12:72356639-72356640 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs12831265 | chr12:72356659-72356660 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs12831272 | chr12:72356670-72356671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs560965714 | chr12:72356767-72356768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs528186771 | chr12:72356826-72356827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs12228469 | chr12:72356896-72356897 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs11179009 | chr12:72356955-72356956 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs11179010 | chr12:72356986-72356987 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs189499042 | chr12:72357035-72357036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs181768370 | chr12:72357066-72357067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs537778446 | chr12:72357265-72357266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs67220079 | chr12:72357315-72357316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs562018833 | chr12:72357316-72357317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs183961814 | chr12:72357357-72357358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs534788009 | chr12:72357366-72357367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs553000408 | chr12:72357398-72357399 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs112745696 | chr12:72357486-72357487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs11179011 | chr12:72357672-72357673 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs11179012 | chr12:72357770-72357771 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs557141651 | chr12:72357893-72357894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs142135541 | chr12:72357938-72357939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs575425824 | chr12:72358046-72358047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs542940773 | chr12:72358062-72358063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs188247760 | chr12:72358090-72358091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs11179013 | chr12:72358092-72358093 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs112191409 | chr12:72358095-72358096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs12821195 | chr12:72358102-72358103 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs12821199 | chr12:72358107-72358108 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs7139179 | chr12:72358116-72358117 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs7139195 | chr12:72358140-72358141 | 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 |
Breast cancer | 21364760 | CNVD |
Disease | 21505450 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Breast cancer | 17133270 | CNVD |
Autism | 20685689 | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:72353400-72356200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr12:72353400-72360200 | Weak transcription | H1 Cell Line | embryonic stem cell |
3 | chr12:72353400-72362400 | Weak transcription | H9 Cell Line | embryonic stem cell |
4 | chr12:72354400-72360200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
5 | chr12:72354600-72359600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
6 | chr12:72354600-72359800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
7 | chr12:72354600-72360200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr12:72354800-72360200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
9 | chr12:72354800-72360200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
10 | chr12:72356000-72359800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |