Variant report
Variant | esv3372900 |
---|---|
Chromosome Location | chr12:84033421-84038519 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:84031333..84032927-chr12:84034914..84036543,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs575241053 | chr12:84033429-84033430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs545533007 | chr12:84033489-84033490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs564215742 | chr12:84033502-84033503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs73161147 | chr12:84033506-84033507 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs546836113 | chr12:84033518-84033519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs528123297 | chr12:84033521-84033522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs73161150 | chr12:84033631-84033632 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs529184426 | chr12:84033672-84033673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs201683187 | chr12:84033683-84033684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs551489560 | chr12:84033684-84033685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs61954268 | chr12:84033723-84033724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs548483562 | chr12:84033752-84033753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs573536248 | chr12:84033771-84033772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs77645819 | chr12:84033776-84033777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs12317153 | chr12:84033787-84033788 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
16 | rs73161152 | chr12:84033798-84033799 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs188565890 | chr12:84033813-84033814 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs192895883 | chr12:84033832-84033833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs534879114 | chr12:84033860-84033861 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs553129389 | chr12:84033866-84033867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs144127208 | chr12:84033876-84033877 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs373796439 | chr12:84033895-84033896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs535742624 | chr12:84033909-84033910 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557234403 | chr12:84033997-84033998 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs575088160 | chr12:84034023-84034024 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs536454571 | chr12:84034051-84034052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs367553137 | chr12:84034060-84034061 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs557537848 | chr12:84034165-84034166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs184925794 | chr12:84034246-84034247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs144434559 | chr12:84034252-84034253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs74107186 | chr12:84034253-84034254 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs529150752 | chr12:84034270-84034271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs544474916 | chr12:84034272-84034273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs562811961 | chr12:84034290-84034291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs570109394 | chr12:84034292-84034293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs530780142 | chr12:84034319-84034320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs552563744 | chr12:84034387-84034388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs570786489 | chr12:84034390-84034391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs187790286 | chr12:84034429-84034430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191522019 | chr12:84034456-84034457 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs12231539 | chr12:84034532-84034533 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs535662748 | chr12:84034613-84034614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs557195619 | chr12:84034655-84034656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs569555726 | chr12:84034710-84034711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs375980392 | chr12:84034713-84034714 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs73161155 | chr12:84034720-84034721 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs530635562 | chr12:84034748-84034749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs184780189 | chr12:84034794-84034795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs189472911 | chr12:84034866-84034867 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs555508390 | chr12:84034917-84034918 | Enhancers 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 |
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 |
Acute myeloid leukemia | 21251322 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | 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 |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:84024800-84034000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr12:84033800-84035000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
3 | chr12:84034000-84035600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr12:84034200-84034800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
5 | chr12:84034200-84035000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
6 | chr12:84034400-84034800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
7 | chr12:84034800-84037200 | Weak transcription | Gastric | stomach |
8 | chr12:84035800-84036000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr12:84035800-84036200 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
10 | chr12:84036000-84036200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |