Variant report
Variant | esv20770 |
---|---|
Chromosome Location | chr1:69996393-70002209 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs77996557 | chr1:69996518-69996519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs538878969 | chr1:69996553-69996554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs191734011 | chr1:69996573-69996574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs571875614 | chr1:69996582-69996583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs145862435 | chr1:69996615-69996616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs11209488 | chr1:69996616-69996617 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs182173633 | chr1:69996795-69996796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs187211997 | chr1:69996818-69996819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs557774865 | chr1:69996824-69996825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs553060388 | chr1:69996831-69996832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs12402852 | chr1:69996856-69996857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs149045739 | chr1:69996882-69996883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs574605095 | chr1:69996894-69996895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs541875690 | chr1:69996958-69996959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs143017165 | chr1:69997006-69997007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs147807619 | chr1:69997025-69997026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs190786624 | chr1:69997279-69997280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs182344414 | chr1:69997305-69997306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs147643240 | chr1:69997308-69997309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs200317609 | chr1:69997311-69997312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs548782224 | chr1:69997323-69997324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs368476557 | chr1:69997434-69997435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs562203609 | chr1:69997462-69997463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs567262287 | chr1:69997468-69997469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs550702184 | chr1:69997485-69997486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs570783472 | chr1:69997517-69997518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs12045969 | chr1:69997518-69997519 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs552421468 | chr1:69997541-69997542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs34975422 | chr1:69997602-69997603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs373669634 | chr1:69997660-69997661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs141197658 | chr1:69997703-69997704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs186619792 | chr1:69997710-69997711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs72934441 | chr1:69997726-69997727 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs190235584 | chr1:69997732-69997733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs146983725 | chr1:69997771-69997772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs1891220 | chr1:69997867-69997868 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
37 | rs545457870 | chr1:69997893-69997894 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs138071024 | chr1:69997917-69997918 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs573566970 | chr1:69997935-69997936 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs577863050 | chr1:69997965-69997966 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs535826263 | chr1:69998013-69998014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs542487315 | chr1:69998014-69998015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs562216191 | chr1:69998025-69998026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs141728724 | chr1:69998054-69998055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs528893392 | chr1:69998341-69998342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs544936156 | chr1:69998354-69998355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs551019901 | chr1:69998422-69998423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs550735706 | chr1:69998438-69998439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs533392895 | chr1:69998449-69998450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs112007292 | chr1:69998486-69998487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 21720365 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 17133270 | CNVD |
Type 2 diabetes | 21956041 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal cancer | 21851588 | CNVD |
abnormal development | 18461090 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Poland''s syndrome | 22110015 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Cancer | 22429812 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:69994800-69997800 | Weak transcription | K562 | blood |
2 | chr1:69995000-69998800 | Weak transcription | NHEK | skin |
3 | chr1:69997800-69998000 | Enhancers | K562 | blood |
4 | chr1:69998800-69999400 | Enhancers | NHEK | skin |
5 | chr1:70000400-70001400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
6 | chr1:70000800-70001400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |