Variant report
| Variant | esv3365987 |
|---|---|
| Chromosome Location | chr16:34302313-34302814 |
| 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 |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs376170211 | chr16:34302322-34302323 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538519544 | chr16:34302358-34302359 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9928429 | chr16:34302377-34302378 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs185849587 | chr16:34302384-34302385 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs192517 | chr16:34302385-34302386 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189637748 | chr16:34302386-34302387 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs373111009 | chr16:34302400-34302401 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs536031487 | chr16:34302404-34302405 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs281640 | chr16:34302405-34302406 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs572007179 | chr16:34302414-34302415 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs545924735 | chr16:34302419-34302420 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557466154 | chr16:34302433-34302434 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs575666340 | chr16:34302449-34302450 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs145135179 | chr16:34302463-34302464 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs561619681 | chr16:34302486-34302487 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs573599372 | chr16:34302507-34302508 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs114621582 | chr16:34302516-34302517 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs559536779 | chr16:34302532-34302533 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs138855736 | chr16:34302575-34302576 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552670771 | chr16:34302589-34302590 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs141487314 | chr16:34302598-34302599 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs531705160 | chr16:34302608-34302609 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs550222380 | chr16:34302673-34302674 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs376275737 | chr16:34302700-34302701 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs150393792 | chr16:34302754-34302755 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs536166080 | chr16:34302810-34302811 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs548794273 | chr16:34302811-34302812 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:119)
| Disease | PMID | Source |
|---|---|---|
| Hodgkin''s lymphoma | 20651079 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Melanoma | 18172304 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 22566537 | CNVD |
| Intellectual disability | 22566537 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21785460 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 22499536 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Autism | 22513405 | CNVD |
| Autism | 22958593 | CNVD |
| Autism | 18184952 | CNVD |
| Autism | 19966786 | CNVD |
| Autism | 21394203 | CNVD |
| Autism | 21969575 | CNVD |
| Autism | 22241247 | CNVD |
| Autism | 20970697 | CNVD |
| Autism | 20942916 | CNVD |
| Epilepsy | 20970697 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Developmental delay | 20808231 | CNVD |
| Obesity | 20808231 | CNVD |
| Autism | 18923514 | CNVD |
| Obesity | 21881559 | CNVD |
| Obesity | 21956041 | CNVD |
| Autism | 20659124 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Schizophrenia | 20587603 | CNVD |
| Schizophrenia | 21285140 | CNVD |
| Schizophrenia | 22885689 | CNVD |
| Schizophrenia | 20553308 | CNVD |
| Schizophrenia | 20970697 | CNVD |
| Schizophrenia | 20433910 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Autism | 19242545 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Autism | 21956041 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Autism | 22067053 | CNVD |
| Autism | 18156158 | CNVD |
| Mental retardation | 20152051 | CNVD |
| Autism | 19218893 | CNVD |
| Autism | 21289514 | CNVD |
| Schizophrenia | 19855392 | CNVD |
| neurodevelopmental Syndrome | 20503337 | CNVD |
| Benign familial neonatal-infantile seizures | 21060786 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Cancer | 21183584 | CNVD |
| Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Autism | 19050728 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Psychiatric disorder | 19050728 | CNVD |
| Schizophrenia | 19348701 | CNVD |
| Attention deficit hyperactivity disorder | 19097825 | CNVD |
| Autism | 20964600 | CNVD |
| Schizophrenia | 19955444 | CNVD |
| Schizophrenia | 18990708 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Severe combined immunodeficiency | 19097825 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Autism | 18522746 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:34299000-34303000 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
| 2 | chr16:34299000-34303200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr16:34300000-34304400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 4 | chr16:34301800-34302800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr16:34302000-34305400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 6 | chr16:34302200-34302800 | ZNF genes & repeats | Rectal Smooth Muscle | rectum |
