Variant report
Variant | nsv499528 |
---|---|
Chromosome Location | chr5:114325356-114334997 |
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 | rs558617583 | chr5:114325373-114325374 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs188502816 | chr5:114325381-114325382 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs534723831 | chr5:114325387-114325388 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs62381427 | chr5:114325401-114325402 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs559881821 | chr5:114325412-114325413 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs554615092 | chr5:114325416-114325417 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs181355792 | chr5:114325421-114325422 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs116019714 | chr5:114325422-114325423 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs10039813 | chr5:114325456-114325457 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs577406425 | chr5:114325504-114325505 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs546461488 | chr5:114325510-114325511 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs145218916 | chr5:114325511-114325512 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs572044936 | chr5:114325513-114325514 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs541045426 | chr5:114325515-114325516 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs185152591 | chr5:114325518-114325519 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs529796674 | chr5:114325521-114325522 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs549653692 | chr5:114325534-114325535 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs563486473 | chr5:114325552-114325553 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs201566604 | chr5:114325569-114325570 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs190133420 | chr5:114325600-114325601 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs200992606 | chr5:114327801-114327802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs375200030 | chr5:114327812-114327813 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs558047792 | chr5:114327826-114327827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs578004537 | chr5:114327831-114327832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs540584894 | chr5:114327859-114327860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs191790709 | chr5:114327888-114327889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs574019467 | chr5:114327901-114327902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs56239364 | chr5:114327926-114327927 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs146883050 | chr5:114327966-114327967 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs531777089 | chr5:114327976-114327977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs575373854 | chr5:114328025-114328026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs367909680 | chr5:114328046-114328047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs567008507 | chr5:114328079-114328080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs545612451 | chr5:114328089-114328090 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs551959160 | chr5:114328095-114328096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs565189200 | chr5:114328117-114328118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs527973052 | chr5:114328125-114328126 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs372268541 | chr5:114328140-114328141 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs374723691 | chr5:114328180-114328181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs140737490 | chr5:114328187-114328188 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs564085546 | chr5:114328211-114328212 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs548777900 | chr5:114328220-114328221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs369047532 | chr5:114328222-114328223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs200818433 | chr5:114328240-114328241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs183250929 | chr5:114328248-114328249 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs10478217 | chr5:114328282-114328283 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs367989202 | chr5:114328286-114328287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs10054511 | chr5:114328290-114328291 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs571514659 | chr5:114328312-114328313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs199955090 | chr5:114328322-114328323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
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 |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Colorectal cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Renal cell carcinoma | 19377443 | CNVD |
Prostate cancer | 16461572 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Sezary syndrome | 18413736 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:114325200-114325600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr5:114327800-114328600 | Enhancers | H9 Cell Line | embryonic stem cell |
3 | chr5:114328400-114328800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |