Variant report
Variant | nsv823133 |
---|---|
Chromosome Location | chr5:93049250-93051884 |
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 | rs568476079 | chr5:93049260-93049261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs138382215 | chr5:93049286-93049287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs551343087 | chr5:93049298-93049299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs376517679 | chr5:93049424-93049425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs192249411 | chr5:93049484-93049485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs185261962 | chr5:93049513-93049514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs187983471 | chr5:93049571-93049572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs535183960 | chr5:93049579-93049580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs554930249 | chr5:93049594-93049595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs59459894 | chr5:93049608-93049609 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs555413259 | chr5:93049654-93049655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs371000193 | chr5:93049704-93049705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs149256968 | chr5:93049735-93049736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs564440098 | chr5:93049745-93049746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs143597291 | chr5:93049778-93049779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs35297922 | chr5:93049787-93049788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs192829748 | chr5:93049835-93049836 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs148069378 | chr5:93049843-93049844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs572314152 | chr5:93049878-93049879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs142536041 | chr5:93049891-93049892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs367710333 | chr5:93049920-93049921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370078761 | chr5:93049956-93049957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs528547046 | chr5:93049957-93049958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs548741280 | chr5:93049980-93049981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs562061087 | chr5:93050161-93050162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs17083315 | chr5:93050168-93050169 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs551281660 | chr5:93050189-93050190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs371841240 | chr5:93050293-93050294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs571094121 | chr5:93050303-93050304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs9285013 | chr5:93050453-93050454 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
31 | rs367898896 | chr5:93050459-93050460 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs372482739 | chr5:93050460-93050461 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs558469583 | chr5:93050535-93050536 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs377037633 | chr5:93050540-93050541 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs146006073 | chr5:93050600-93050601 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs535172231 | chr5:93050609-93050610 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs140058312 | chr5:93050613-93050614 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs75573312 | chr5:93050647-93050648 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs537412253 | chr5:93050705-93050706 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs184416901 | chr5:93050776-93050777 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs189352733 | chr5:93050832-93050833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs540167335 | chr5:93050885-93050886 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs57058221 | chr5:93050893-93050894 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs180793337 | chr5:93050908-93050909 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs562719217 | chr5:93050916-93050917 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs542321789 | chr5:93050917-93050918 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs150812767 | chr5:93050927-93050928 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs531044355 | chr5:93050993-93050994 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs531859471 | chr5:93051018-93051019 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs550927774 | chr5:93051114-93051115 | Enhancers Weak transcription | 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 |
Esophageal adenocarcinoma | 18519675 | 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 |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Mental retardation | 19471318 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:93038400-93076200 | Weak transcription | Ovary | ovary |
2 | chr5:93038800-93050400 | Weak transcription | Fetal Intestine Small | intestine |
3 | chr5:93040600-93088600 | Weak transcription | Aorta | Aorta |
4 | chr5:93041000-93051400 | Weak transcription | Fetal Heart | heart |
5 | chr5:93043000-93076400 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
6 | chr5:93045000-93073200 | Weak transcription | Primary B cells from cord blood | blood |
7 | chr5:93049200-93052800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr5:93050200-93053000 | Weak transcription | HUVEC | blood vessel |
9 | chr5:93050400-93052400 | Enhancers | Fetal Intestine Small | intestine |
10 | chr5:93051000-93051200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
11 | chr5:93051000-93051800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr5:93051000-93052000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr5:93051000-93052800 | Enhancers | HepG2 | liver |
14 | chr5:93051000-93053200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
15 | chr5:93051000-93053400 | Enhancers | Fetal Intestine Large | intestine |
16 | chr5:93051200-93053000 | Enhancers | Duodenum Mucosa | Duodenum |
17 | chr5:93051400-93051800 | Enhancers | Fetal Heart | heart |
18 | chr5:93051400-93052200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
19 | chr5:93051800-93052000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
20 | chr5:93051800-93052800 | Weak transcription | Fetal Heart | heart |