Variant report
Variant | esv1825624 |
---|---|
Chromosome Location | chr5:97934125-97938220 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:97927404..97929282-chr5:97932064..97934664,2 | 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 | rs251533 | chr5:97934125-97934126 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs185449599 | chr5:97934126-97934127 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs35054473 | chr5:97934138-97934139 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs189804669 | chr5:97934144-97934145 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs530686257 | chr5:97934172-97934173 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs144502764 | chr5:97934181-97934182 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs567134092 | chr5:97934193-97934194 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs193263403 | chr5:97934216-97934217 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs535323443 | chr5:97934323-97934324 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs76797249 | chr5:97934327-97934328 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs62369100 | chr5:97934400-97934401 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs185423763 | chr5:97934454-97934455 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs188376516 | chr5:97934457-97934458 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs370779257 | chr5:97934468-97934469 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs148424640 | chr5:97934483-97934484 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs199788443 | chr5:97934528-97934529 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs11354212 | chr5:97934541-97934542 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs463314 | chr5:97934561-97934562 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs536511591 | chr5:97934583-97934584 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs465585 | chr5:97934600-97934601 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs180981845 | chr5:97934689-97934690 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs17842413 | chr5:97934693-97934694 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs368051796 | chr5:97934748-97934749 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs571869883 | chr5:97934762-97934763 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs565226821 | chr5:97934773-97934774 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs185261497 | chr5:97934790-97934791 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs544823202 | chr5:97934793-97934794 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs563107399 | chr5:97934851-97934852 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs141643814 | chr5:97934854-97934855 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs17842412 | chr5:97934877-97934878 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs188846756 | chr5:97934887-97934888 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs528064741 | chr5:97935074-97935075 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs546534673 | chr5:97935111-97935112 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs147139144 | chr5:97935133-97935134 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs17132943 | chr5:97935134-97935135 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs181279136 | chr5:97935137-97935138 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs574045587 | chr5:97935157-97935158 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs186969171 | chr5:97935244-97935245 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs140652173 | chr5:97935253-97935254 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs76571846 | chr5:97935254-97935255 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs371912877 | chr5:97935271-97935272 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs191408218 | chr5:97935315-97935316 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs144527322 | chr5:97935372-97935373 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs115890101 | chr5:97935383-97935384 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs184103438 | chr5:97935390-97935391 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs187066874 | chr5:97935395-97935396 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs190801522 | chr5:97935402-97935403 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs575089679 | chr5:97935422-97935423 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs467657 | chr5:97935437-97935438 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs147838053 | chr5:97935502-97935503 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Testicular cancer | 18059402 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Breast cancer | 21611746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:97933800-97939600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr5:97937800-97938600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
3 | chr5:97938000-97938400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |