Variant report
| Variant | nsv521548 |
|---|---|
| Chromosome Location | chr7:146867339-146871913 |
| 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:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs547903121 | chr7:146867803-146867804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs570958567 | chr7:146867805-146867806 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7802451 | chr7:146867821-146867822 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs556541860 | chr7:146867884-146867885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373620823 | chr7:146867909-146867910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs570220417 | chr7:146867980-146867981 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs535756342 | chr7:146868047-146868048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs193077089 | chr7:146868059-146868060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs555493944 | chr7:146868106-146868107 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs572304740 | chr7:146868141-146868142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs116342226 | chr7:146868155-146868156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs541269782 | chr7:146868156-146868157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs553572113 | chr7:146868168-146868169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs138376359 | chr7:146868180-146868181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs536682149 | chr7:146868189-146868190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545445530 | chr7:146868228-146868229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs562511558 | chr7:146868235-146868236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs566788818 | chr7:146870810-146870811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs531124401 | chr7:146870815-146870816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs551154186 | chr7:146870817-146870818 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs567863981 | chr7:146870822-146870823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185510223 | chr7:146870885-146870886 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs12703880 | chr7:146870911-146870912 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs4725706 | chr7:146870914-146870915 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 25 | rs558851540 | chr7:146870932-146870933 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs567662518 | chr7:146870933-146870934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs13237218 | chr7:146870943-146870944 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs376825934 | chr7:146870952-146870953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs4726821 | chr7:146870954-146870955 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs556880850 | chr7:146870986-146870987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs575534787 | chr7:146870991-146870992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Stuttering | 21108403 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Schizophrenia | 17646849 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Pancreatitis | 21956041 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Tourette syndrome | 19546859 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Autism | 20808228 | CNVD |
| Schizophrenia | 20838587 | CNVD |
| Schizophrenia | 20718829 | CNVD |
| Neuropsychiatric disorder | 21827697 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Autism | 20964600 | CNVD |
| Epilepsy | 17646849 | CNVD |
| Mental retardation | 19896112 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:146867800-146868400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr7:146870800-146871000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
