Variant report
Variant | nsv824196 |
---|---|
Chromosome Location | chr7:83708277-83709998 |
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 | rs191727330 | chr7:83708328-83708329 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs540256061 | chr7:83708375-83708376 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs28569854 | chr7:83708380-83708381 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs111621614 | chr7:83708428-83708429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs73378840 | chr7:83708459-83708460 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs560031398 | chr7:83708462-83708463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs184031487 | chr7:83708470-83708471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545345266 | chr7:83708476-83708477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563746348 | chr7:83708478-83708479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs111666997 | chr7:83708497-83708498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs549891684 | chr7:83708544-83708545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs539749487 | chr7:83708550-83708551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs2691696 | chr7:83708696-83708697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs529120484 | chr7:83708713-83708714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs547288682 | chr7:83708724-83708725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs565935006 | chr7:83708757-83708758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs2691697 | chr7:83708778-83708779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs539748497 | chr7:83708800-83708801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs552834412 | chr7:83708873-83708874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs189668817 | chr7:83708879-83708880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs570106321 | chr7:83708894-83708895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537539662 | chr7:83708903-83708904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs555860378 | chr7:83708905-83708906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs180678912 | chr7:83708907-83708908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs28497496 | chr7:83708909-83708910 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs28762136 | chr7:83708920-83708921 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs577874865 | chr7:83708962-83708963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs112164595 | chr7:83709042-83709043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs28880439 | chr7:83709045-83709046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs146571640 | chr7:83709093-83709094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531231474 | chr7:83709112-83709113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs543136253 | chr7:83709114-83709115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs28802604 | chr7:83709128-83709129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs529000776 | chr7:83709130-83709131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs143024456 | chr7:83709154-83709155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs565893929 | chr7:83709159-83709160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs555051450 | chr7:83709162-83709163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190592294 | chr7:83709166-83709167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs144694626 | chr7:83709193-83709194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182023955 | chr7:83709204-83709205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs549126730 | chr7:83709219-83709220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs147405811 | chr7:83709220-83709221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs139738235 | chr7:83709223-83709224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs10259999 | chr7:83709272-83709273 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs577548120 | chr7:83709276-83709277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs538921129 | chr7:83709282-83709283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs557265067 | chr7:83709393-83709394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs575547851 | chr7:83709412-83709413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs543376109 | chr7:83709438-83709439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185771572 | chr7:83709474-83709475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17170743 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Biliary cancer | 19435499 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Cancer | 21183584 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Gastric cancer | 24379144 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Williams-beuren syndrome | 16826523 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Wilms tumour | 19318497 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Schizophrenia | 17879154 | CNVD |
Prostate cancer | 16573809 | CNVD |
Prostate cancer | 16461572 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Autism | 20858243 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 21611746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:83689800-83714400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr7:83690600-83714600 | Weak transcription | NHDF-Ad | bronchial |
3 | chr7:83692200-83714600 | Weak transcription | H9 Cell Line | embryonic stem cell |
4 | chr7:83698600-83710400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr7:83698600-83715400 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
6 | chr7:83703200-83715200 | Weak transcription | NH-A | brain |
7 | chr7:83703600-83714400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
8 | chr7:83703600-83715400 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
9 | chr7:83703800-83714400 | Weak transcription | Colon Smooth Muscle | Colon |
10 | chr7:83706000-83711200 | Weak transcription | Dnd41 | blood |
11 | chr7:83707400-83721600 | Weak transcription | Fetal Brain Male | brain |
12 | chr7:83707600-83708400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
13 | chr7:83707800-83708400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
14 | chr7:83708000-83718000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
15 | chr7:83708400-83711400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
16 | chr7:83708400-83714400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
17 | chr7:83708800-83715000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |