Variant report
| Variant | esv11078 |
|---|---|
| Chromosome Location | chr3:68336698-68337512 |
| 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:45 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs147806767 | chr3:68336745-68336746 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574777751 | chr3:68336748-68336749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540235121 | chr3:68336770-68336771 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs185493096 | chr3:68336790-68336791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs141206050 | chr3:68336796-68336797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560301949 | chr3:68336801-68336802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs190838858 | chr3:68336807-68336808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs369043132 | chr3:68336820-68336821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs563067557 | chr3:68336839-68336840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs576521200 | chr3:68336856-68336857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs182749345 | chr3:68336886-68336887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs1110841 | chr3:68336892-68336893 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs115994329 | chr3:68336895-68336896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs546972292 | chr3:68336915-68336916 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563866369 | chr3:68336925-68336926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs551035424 | chr3:68336927-68336928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs17047443 | chr3:68336930-68336931 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs17047444 | chr3:68336960-68336961 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs146949925 | chr3:68336961-68336962 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs549280247 | chr3:68336996-68336997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189011294 | chr3:68337044-68337045 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs35069967 | chr3:68337057-68337058 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs542148588 | chr3:68337058-68337059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs113741730 | chr3:68337059-68337060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs137931845 | chr3:68337062-68337063 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs142754538 | chr3:68337063-68337064 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs540072178 | chr3:68337064-68337065 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs71112629 | chr3:68337071-68337072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs137925450 | chr3:68337097-68337098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs577456733 | chr3:68337106-68337107 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs539949145 | chr3:68337145-68337146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs72926563 | chr3:68337162-68337163 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs192080883 | chr3:68337194-68337195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs182965096 | chr3:68337195-68337196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs902720 | chr3:68337202-68337203 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs115848083 | chr3:68337217-68337218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs187430176 | chr3:68337266-68337267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs536538644 | chr3:68337313-68337314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs143187550 | chr3:68337316-68337317 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs192235733 | chr3:68337329-68337330 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs549467259 | chr3:68337381-68337382 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs563207928 | chr3:68337384-68337385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs184006796 | chr3:68337436-68337437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs548884143 | chr3:68337437-68337438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs187187741 | chr3:68337458-68337459 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 19490591 | CNVD |
| Autism | 18414403 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Metastatic melanoma | 17975146 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Autism | 22102821 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Alzheimer''s disease | 22166940 | CNVD |
| Mental retardation | 20848658 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Breast cancer | 21364760 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Cancer | 20164919 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:68335600-68338000 | Enhancers | Fetal Lung | lung |
| 2 | chr3:68335800-68337400 | Enhancers | Fetal Stomach | stomach |
| 3 | chr3:68336400-68336800 | Enhancers | Fetal Kidney | kidney |
| 4 | chr3:68336400-68336800 | Enhancers | Fetal Muscle Leg | muscle |
| 5 | chr3:68337200-68337400 | Enhancers | Psoas Muscle | Psoas |
