Variant report
Variant | esv3418654 |
---|---|
Chromosome Location | chr3:85062162-85064360 |
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 | rs576308833 | chr3:85062173-85062174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs191027151 | chr3:85062200-85062201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs183179620 | chr3:85062216-85062217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs374344418 | chr3:85062218-85062219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs541863703 | chr3:85062229-85062230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs542846579 | chr3:85062258-85062259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs561564124 | chr3:85062260-85062261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs559903052 | chr3:85062286-85062287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs201519314 | chr3:85062292-85062293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs375507729 | chr3:85062294-85062295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs56736286 | chr3:85062308-85062309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs61234501 | chr3:85062309-85062310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs527324388 | chr3:85062350-85062351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs116466730 | chr3:85062394-85062395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs531828381 | chr3:85062426-85062427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs570787817 | chr3:85062444-85062445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs77497884 | chr3:85062466-85062467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs550300657 | chr3:85062468-85062469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs144880923 | chr3:85062518-85062519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs370068984 | chr3:85062556-85062557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs138671064 | chr3:85062633-85062634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs187019770 | chr3:85062673-85062674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs547825897 | chr3:85062674-85062675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs565243173 | chr3:85062760-85062761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs149326684 | chr3:85062771-85062772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs532642692 | chr3:85062799-85062800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs539493668 | chr3:85062865-85062866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs547858415 | chr3:85062902-85062903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs377163369 | chr3:85062919-85062920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs566191377 | chr3:85062932-85062933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs557716712 | chr3:85062948-85062949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs576345622 | chr3:85062964-85062965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs192172057 | chr3:85062969-85062970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs184429729 | chr3:85063073-85063074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs574137210 | chr3:85063079-85063080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs13075478 | chr3:85063080-85063081 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs13075494 | chr3:85063111-85063112 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs187951500 | chr3:85063112-85063113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs545848185 | chr3:85063143-85063144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564035562 | chr3:85063174-85063175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs531661092 | chr3:85063200-85063201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs550053056 | chr3:85063204-85063205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs371354687 | chr3:85063224-85063225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs561740256 | chr3:85063235-85063236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs114900723 | chr3:85063236-85063237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs547270122 | chr3:85063238-85063239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs193133853 | chr3:85063245-85063246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs550574405 | chr3:85063261-85063262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs539515578 | chr3:85063263-85063264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185598921 | chr3:85063264-85063265 | Weak transcription | 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 |
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 |
Neurodevelopmental disorder | 22521361 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Mental retardation | 17124404 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Autism | 22102821 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:85055600-85068200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
2 | chr3:85055800-85081400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
3 | chr3:85057200-85071400 | Weak transcription | Brain Anterior Caudate | brain |