Variant report
Variant | esv3397474 |
---|---|
Chromosome Location | chr1:91923614-91927412 |
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 | rs540695665 | chr1:91923625-91923626 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs555916 | chr1:91923634-91923635 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs113406065 | chr1:91923694-91923695 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs533495443 | chr1:91923700-91923701 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs1395471 | chr1:91923713-91923714 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs569537297 | chr1:91923718-91923719 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs181584538 | chr1:91923741-91923742 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs35310771 | chr1:91923764-91923765 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
9 | rs186442117 | chr1:91923781-91923782 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs558896269 | chr1:91923796-91923797 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs189297471 | chr1:91923806-91923807 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs535666581 | chr1:91923813-91923814 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs553921430 | chr1:91923894-91923895 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs566324416 | chr1:91923959-91923960 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs180956622 | chr1:91923966-91923967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs575688657 | chr1:91924009-91924010 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs544688987 | chr1:91924022-91924023 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs199586520 | chr1:91924031-91924032 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs576723284 | chr1:91924047-91924048 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs544062426 | chr1:91924055-91924056 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs72952993 | chr1:91924075-91924076 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs576912132 | chr1:91924119-91924120 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs143351804 | chr1:91924131-91924132 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs200134259 | chr1:91924162-91924163 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs5776100 | chr1:91924163-91924164 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs3038230 | chr1:91924164-91924165 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs146105370 | chr1:91924165-91924166 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs397830030 | chr1:91924168-91924169 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs1876593 | chr1:91924192-91924193 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
30 | rs529952710 | chr1:91924209-91924210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs1876592 | chr1:91924223-91924224 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
32 | rs370079249 | chr1:91924265-91924266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs560432915 | chr1:91924284-91924285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs533869754 | chr1:91924306-91924307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs544585017 | chr1:91924614-91924615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs564372932 | chr1:91924623-91924624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs185841573 | chr1:91924634-91924635 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs548882813 | chr1:91924655-91924656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs72952997 | chr1:91924695-91924696 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs139479649 | chr1:91924719-91924720 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs61798780 | chr1:91924754-91924755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs190942778 | chr1:91924770-91924771 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs7413616 | chr1:91924792-91924793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | 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 |
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 |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Cancer | 22429812 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 17133270 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 16397240 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Schizophrenia | 20967226 | CNVD |
Breast cancer | 22522925 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:91922200-91924200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr1:91923400-91924400 | Weak transcription | Fetal Intestine Large | intestine |
3 | chr1:91924600-91924800 | Enhancers | Fetal Intestine Large | intestine |