Variant report
Variant | esv3422712 |
---|---|
Chromosome Location | chr1:193997229-193998427 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:193990094..193991788-chr1:193994574..193997368,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs556828267 | chr1:193997237-193997238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs111536834 | chr1:193997238-193997239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs190149498 | chr1:193997330-193997331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs555580849 | chr1:193997354-193997355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs148213490 | chr1:193997393-193997394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs572461545 | chr1:193997436-193997437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs546548414 | chr1:193997444-193997445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541083107 | chr1:193997475-193997476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs144010951 | chr1:193997485-193997486 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs10921478 | chr1:193997496-193997497 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs113632864 | chr1:193997506-193997507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs67007217 | chr1:193997507-193997508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs59525072 | chr1:193997514-193997515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12747500 | chr1:193997515-193997516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs543299445 | chr1:193997517-193997518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs71642949 | chr1:193997525-193997526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs12747507 | chr1:193997526-193997527 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs201878450 | chr1:193997527-193997528 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs71642950 | chr1:193997539-193997540 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs12723756 | chr1:193997551-193997552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs12747524 | chr1:193997559-193997560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs376618180 | chr1:193997572-193997573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs374120290 | chr1:193997575-193997576 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs372565470 | chr1:193997578-193997579 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs199887539 | chr1:193997585-193997586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs376463751 | chr1:193997586-193997587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs368700984 | chr1:193997588-193997589 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs372276461 | chr1:193997589-193997590 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs201559926 | chr1:193997606-193997607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs200014060 | chr1:193997607-193997608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs111928136 | chr1:193997608-193997609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs113758479 | chr1:193997609-193997610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs563186878 | chr1:193997632-193997633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs374556521 | chr1:193997648-193997649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs371231023 | chr1:193997651-193997652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs547576175 | chr1:193997652-193997653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs180996414 | chr1:193997654-193997655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs376367651 | chr1:193997662-193997663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs529077399 | chr1:193997665-193997666 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs111205676 | chr1:193997672-193997673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs201000520 | chr1:193997688-193997689 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs71642951 | chr1:193997691-193997692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs144312210 | chr1:193997692-193997693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs71642952 | chr1:193997696-193997697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs549116964 | chr1:193997707-193997708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs71642953 | chr1:193997708-193997709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs377119479 | chr1:193997723-193997724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs182559813 | chr1:193997729-193997730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs369128346 | chr1:193997737-193997738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs372591635 | chr1:193997747-193997748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 20688739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21611746 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Breast cancer | 17393978 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Mental retardation | 17847001 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Mental retardation | 21062444 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:193995400-193998200 | Enhancers | Liver | Liver |
2 | chr1:193997600-193997800 | Enhancers | HSMM | muscle |