Variant report
Variant | nsv979132 |
---|---|
Chromosome Location | chr2:145626842-145629864 |
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 | rs375016564 | chr2:145628460-145628461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs8179718 | chr2:145628478-145628479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs185216685 | chr2:145628490-145628491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs571604805 | chr2:145628572-145628573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs199605829 | chr2:145628616-145628617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs142090681 | chr2:145628632-145628633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs556921386 | chr2:145628640-145628641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs151168835 | chr2:145628647-145628648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs542775481 | chr2:145628654-145628655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs78964534 | chr2:145628676-145628677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs140228930 | chr2:145628710-145628711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs541209098 | chr2:145628757-145628758 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs55881422 | chr2:145628761-145628762 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs115483638 | chr2:145628819-145628820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs538200336 | chr2:145628839-145628840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs189381272 | chr2:145628907-145628908 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs530480856 | chr2:145628960-145628961 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs548816433 | chr2:145628961-145628962 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561030784 | chr2:145628968-145628969 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs578000343 | chr2:145628985-145628986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Breast cancer | 16272173 | CNVD |
Mowat-Wilson syndrome | 21572526 | CNVD |
Disorders of sex development | 21048976 | CNVD |
epilepsy | 18472482 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Autism | 16446308 | CNVD |
Autism | 19401682 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Colorectal cancer | 16272173 | CNVD |
myoclonus epilepsy | 18472482 | CNVD |
Benign familial neonatal-infantile seizures | 18472482 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Prostate cancer | 18632612 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Mental retardation | 22214275 | CNVD |
Glioblastoma | 21080181 | CNVD |
Non-syndromic sensorineural hearing loss | 20456320 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:145628400-145629000 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr2:145628600-145629000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |