Variant report
Variant | esv3441464 |
---|---|
Chromosome Location | chr3:90330362-90339760 |
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 | rs529023765 | chr3:90330400-90330401 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs200150937 | chr3:90330430-90330431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs550359399 | chr3:90330436-90330437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs574002809 | chr3:90330443-90330444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs371883649 | chr3:90330464-90330465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs181758316 | chr3:90330473-90330474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs559677075 | chr3:90330483-90330484 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs75133538 | chr3:90330503-90330504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs184885181 | chr3:90330518-90330519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs565546129 | chr3:90330529-90330530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs569045755 | chr3:90330550-90330551 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs531243038 | chr3:90330552-90330553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs9821024 | chr3:90330554-90330555 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs569717109 | chr3:90330572-90330573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs528969187 | chr3:90330579-90330580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551724677 | chr3:90330594-90330595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs565712961 | chr3:90330597-90330598 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs534786072 | chr3:90330607-90330608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs557547296 | chr3:90330609-90330610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs77140727 | chr3:90330610-90330611 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs189930722 | chr3:90330613-90330614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs149103732 | chr3:90330614-90330615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs142240038 | chr3:90330616-90330617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs553387896 | chr3:90330648-90330649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs76326364 | chr3:90330666-90330667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs566801512 | chr3:90330680-90330681 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs574013475 | chr3:90330684-90330685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs181068075 | chr3:90330712-90330713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs553404848 | chr3:90330716-90330717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs546911481 | chr3:90330725-90330726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs75195926 | chr3:90330726-90330727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs80048232 | chr3:90330732-90330733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs554536521 | chr3:90330740-90330741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs76566805 | chr3:90330752-90330753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545580732 | chr3:90330761-90330762 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs79307827 | chr3:90330762-90330763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs117715980 | chr3:90330763-90330764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs75641757 | chr3:90330768-90330769 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs544964166 | chr3:90330789-90330790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs563256612 | chr3:90330799-90330800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs528908066 | chr3:90330805-90330806 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs151141361 | chr3:90330811-90330812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs185111016 | chr3:90330816-90330817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs528182399 | chr3:90330820-90330821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs551112977 | chr3:90330826-90330827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs542894190 | chr3:90330843-90330844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs140143768 | chr3:90330881-90330882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs531914867 | chr3:90330896-90330897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs74959415 | chr3:90330912-90330913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs555773678 | chr3:90330937-90330938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Cancer | 20164920 | CNVD |
Lung cancer | 19547694 | CNVD |
Cancer | 20164919 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:90330400-90332200 | Enhancers | Dnd41 | blood |
2 | chr3:90330600-90332000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr3:90331200-90333600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
4 | chr3:90332800-90333400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr3:90333400-90333600 | Bivalent Enhancer | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr3:90336000-90338000 | ZNF genes & repeats | Liver | Liver |
7 | chr3:90336800-90338000 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
8 | chr3:90337600-90338000 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
9 | chr3:90337800-90342800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |