Variant report
Variant | esv3399348 |
---|---|
Chromosome Location | chr1:72363814-72365762 |
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 | rs570533081 | chr1:72364864-72364865 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs138471610 | chr1:72364881-72364882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs78256097 | chr1:72364895-72364896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs191631248 | chr1:72364898-72364899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs375556700 | chr1:72364957-72364958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs115289672 | chr1:72364989-72364990 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs575644886 | chr1:72365012-72365013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs542412598 | chr1:72365035-72365036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs575554289 | chr1:72365048-72365049 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181668682 | chr1:72365053-72365054 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs538156284 | chr1:72365063-72365064 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs539777148 | chr1:72365099-72365100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557760998 | chr1:72365119-72365120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs577571953 | chr1:72365175-72365176 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs539909955 | chr1:72365220-72365221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs560238903 | chr1:72365273-72365274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs573333172 | chr1:72365278-72365279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs562216592 | chr1:72365385-72365386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs80119872 | chr1:72365392-72365393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs547049232 | chr1:72365410-72365411 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs186364509 | chr1:72365468-72365469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs540219886 | chr1:72365469-72365470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs373309158 | chr1:72365503-72365504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs375246142 | chr1:72365515-72365516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs544506214 | chr1:72365542-72365543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs560217848 | chr1:72365546-72365547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs190813102 | chr1:72365594-72365595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs75716850 | chr1:72365597-72365598 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs546775795 | chr1:72365642-72365643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs182306106 | chr1:72365643-72365644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs199699324 | chr1:72365653-72365654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs529063198 | chr1:72365671-72365672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs186616671 | chr1:72365690-72365691 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs77933274 | chr1:72365695-72365696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs538093969 | chr1:72365744-72365745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs145096533 | chr1:72365751-72365752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs571150841 | chr1:72365762-72365763 | Enhancers | 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 |
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 |
Cancer | 20164920 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
body mass index | 19812545 | CNVD |
Obesity | 20935630 | CNVD |
Breast cancer | 22522925 | CNVD |
Williams Syndrome | 20824207 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:72364800-72365600 | Enhancers | Fetal Stomach | stomach |
2 | chr1:72364800-72366000 | Enhancers | Colon Smooth Muscle | Colon |
3 | chr1:72365400-72366000 | Enhancers | Rectal Smooth Muscle | rectum |