Variant report
| Variant | esv3373708 |
|---|---|
| Chromosome Location | chr11:93159508-93162027 |
| 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:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs543331608 | chr11:93161618-93161619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563379640 | chr11:93161622-93161623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529962879 | chr11:93161650-93161651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs532364881 | chr11:93161655-93161656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556058429 | chr11:93161667-93161668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113244097 | chr11:93161717-93161718 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559378209 | chr11:93161726-93161727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs113759315 | chr11:93161778-93161779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs72974232 | chr11:93161780-93161781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs72974234 | chr11:93161782-93161783 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191879077 | chr11:93161798-93161799 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs571084081 | chr11:93161802-93161803 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572673854 | chr11:93161803-93161804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs538145602 | chr11:93161804-93161805 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs536982667 | chr11:93161811-93161812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs75800257 | chr11:93161829-93161830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs2605581 | chr11:93161837-93161838 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 18 | rs80231993 | chr11:93161840-93161841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs183346305 | chr11:93161842-93161843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs72974237 | chr11:93161850-93161851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs72974240 | chr11:93161857-93161858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs199620154 | chr11:93161859-93161860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs76916628 | chr11:93161877-93161878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs76039554 | chr11:93161884-93161885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs74416104 | chr11:93161889-93161890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs78149674 | chr11:93161904-93161905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs148337866 | chr11:93161906-93161907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs11020354 | chr11:93161915-93161916 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs77033290 | chr11:93161917-93161918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs186414363 | chr11:93161937-93161938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs372088575 | chr11:93161951-93161952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs73557507 | chr11:93161955-93161956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs190418380 | chr11:93161959-93161960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs558279923 | chr11:93161974-93161975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs576813565 | chr11:93161999-93162000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs544177425 | chr11:93162008-93162009 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs138228012 | chr11:93162013-93162014 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs138958509 | chr11:93162014-93162015 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 22429812 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 22183965 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21958427 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21499728 | CNVD |
| Breast cancer | 19181860 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Basal cell lymphoma | 16790693 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:93161600-93162200 | Enhancers | Dnd41 | blood |
