Variant report
Variant | nsv520602 |
---|---|
Chromosome Location | chr3:88708334-88708914 |
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)
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7638288 | chr3:88708334-88708335 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs183256548 | chr3:88708381-88708382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs146684418 | chr3:88708388-88708389 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs72034576 | chr3:88708389-88708390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs60646214 | chr3:88708398-88708399 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs559332635 | chr3:88708401-88708402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188131080 | chr3:88708405-88708406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs373134102 | chr3:88708483-88708484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs191446739 | chr3:88708498-88708499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs563469655 | chr3:88708540-88708541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs558559777 | chr3:88708548-88708549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs576932626 | chr3:88708552-88708553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs59368275 | chr3:88708588-88708589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs7630627 | chr3:88708607-88708608 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs529200872 | chr3:88708642-88708643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs554184651 | chr3:88708709-88708710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs71101613 | chr3:88708711-88708712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs560978569 | chr3:88708721-88708722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs528394502 | chr3:88708749-88708750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs75911927 | chr3:88708834-88708835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs571258049 | chr3:88708839-88708840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs538663553 | chr3:88708844-88708845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs147069694 | chr3:88708893-88708894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs556061841 | chr3:88708895-88708896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560234335 | chr3:88708899-88708900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs1995015 | chr3:88708914-88708915 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
Acute lymphoblastic leukemia | 20435627 | 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 |
Wilms tumour | 21544195 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Cancer | 20164920 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Lung cancer | 19547694 | CNVD |
Cancer | 20164919 | CNVD |
Acute myeloid leukemia | 19651600 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:88689600-88709800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |