Variant report
Variant | esv1806206 |
---|---|
Chromosome Location | chr3:82194083-82203911 |
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 | rs6797285 | chr3:82194083-82194084 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs370608684 | chr3:82194114-82194115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs576141860 | chr3:82194124-82194125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs560378436 | chr3:82194187-82194188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs182067034 | chr3:82194205-82194206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs186659335 | chr3:82194257-82194258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs142912400 | chr3:82194281-82194282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs531180277 | chr3:82194360-82194361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs551360312 | chr3:82194361-82194362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs564597854 | chr3:82194378-82194379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs527377928 | chr3:82194415-82194416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs199669496 | chr3:82194422-82194423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs567227193 | chr3:82194459-82194460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547138839 | chr3:82194462-82194463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs566704852 | chr3:82194482-82194483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs375100158 | chr3:82194483-82194484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs529528279 | chr3:82194493-82194494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs549380155 | chr3:82194523-82194524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs569552118 | chr3:82194531-82194532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs537801905 | chr3:82194533-82194534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs530340145 | chr3:82194558-82194559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537461103 | chr3:82194588-82194589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs374444556 | chr3:82194807-82194808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs576296009 | chr3:82194815-82194816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs545015939 | chr3:82194858-82194859 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs12107475 | chr3:82194881-82194882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs571994429 | chr3:82194884-82194885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540711230 | chr3:82194916-82194917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs146667145 | chr3:82194930-82194931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs529441328 | chr3:82194938-82194939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs199618891 | chr3:82194966-82194967 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs188128697 | chr3:82194979-82194980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs558372093 | chr3:82194989-82194990 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs140248694 | chr3:82200601-82200602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs575701238 | chr3:82200618-82200619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs12486412 | chr3:82200654-82200655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs544755202 | chr3:82200721-82200722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs142501149 | chr3:82200730-82200731 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs73135717 | chr3:82200804-82200805 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs540521361 | chr3:82200824-82200825 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs560414170 | chr3:82200866-82200867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs527616754 | chr3:82200888-82200889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs528857735 | chr3:82200899-82200900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs565497912 | chr3:82200903-82200904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs542613254 | chr3:82200924-82200925 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs369899257 | chr3:82200984-82200985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs562404750 | chr3:82201022-82201023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs531296461 | chr3:82201083-82201084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs551108809 | chr3:82201150-82201151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs183314003 | chr3:82201215-82201216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Melanoma | 18172304 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Wilms tumour | 21544195 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Mental retardation | 17124404 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Autism | 20808228 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:82193400-82194600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
2 | chr3:82194800-82195000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
3 | chr3:82200600-82202000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr3:82203400-82204200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
5 | chr3:82203400-82204800 | Enhancers | HepG2 | liver |