Variant report
Variant | esv3413360 |
---|---|
Chromosome Location | chr11:93325554-93328002 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs12792596 | chr11:93325584-93325585 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs186525172 | chr11:93325588-93325589 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs542987558 | chr11:93325603-93325604 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs561099756 | chr11:93325604-93325605 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs190840746 | chr11:93325615-93325616 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs141274360 | chr11:93325620-93325621 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs573207580 | chr11:93325648-93325649 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs7130903 | chr11:93325649-93325650 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
9 | rs536611882 | chr11:93325721-93325722 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs532567130 | chr11:93325769-93325770 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs147763413 | chr11:93325856-93325857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533367613 | chr11:93325886-93325887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs563371857 | chr11:93325915-93325916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs180888085 | chr11:93325970-93325971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554956286 | chr11:93326027-93326028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs12788445 | chr11:93326042-93326043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs567109824 | chr11:93326067-93326068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs186314513 | chr11:93326096-93326097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs116812967 | chr11:93326109-93326110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs571608223 | chr11:93326120-93326121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs544138653 | chr11:93326131-93326132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs369097168 | chr11:93326195-93326196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs60833994 | chr11:93326216-93326217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs369190361 | chr11:93326242-93326243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs558870873 | chr11:93326256-93326257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs4388844 | chr11:93326267-93326268 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
27 | rs112738351 | chr11:93326419-93326420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs11825780 | chr11:93326423-93326424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs191110546 | chr11:93326431-93326432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs536315049 | chr11:93326441-93326442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs555056562 | chr11:93326443-93326444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs535877476 | chr11:93326445-93326446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs74217716 | chr11:93326453-93326454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs573110358 | chr11:93326462-93326463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs59454571 | chr11:93326474-93326475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs80053348 | chr11:93326484-93326485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs370903061 | chr11:93326485-93326486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs375265336 | chr11:93326486-93326487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs368206188 | chr11:93326488-93326489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs11020429 | chr11:93326507-93326508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs59237799 | chr11:93326516-93326517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs5025292 | chr11:93326517-93326518 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
43 | rs565231744 | chr11:93326562-93326563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs11020430 | chr11:93326596-93326597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs577142981 | chr11:93326603-93326604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs539758714 | chr11:93326609-93326610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs183529382 | chr11:93326610-93326611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs138943328 | chr11:93326614-93326615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs187497520 | chr11:93326635-93326636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs11020431 | chr11:93326648-93326649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
Prostate cancer | 18632612 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Medulloblastoma | 21163964 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:93323200-93329000 | Weak transcription | Fetal Intestine Small | intestine |
2 | chr11:93324400-93325800 | Enhancers | GM12878-XiMat | blood |