Variant report
Variant | esv1828643 |
---|---|
Chromosome Location | chr1:58744143-58747747 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs370742211 | chr1:58744393-58744394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs555340067 | chr1:58744395-58744396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs190733402 | chr1:58744568-58744569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs377179727 | chr1:58744822-58744823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575425691 | chr1:58744921-58744922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs375046662 | chr1:58744993-58744994 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542886525 | chr1:58745085-58745086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs559551912 | chr1:58745088-58745089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs117388414 | chr1:58745146-58745147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs569299400 | chr1:58745192-58745193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs571238266 | chr1:58745240-58745241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs79705891 | chr1:58745258-58745259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557971760 | chr1:58745260-58745261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs573080541 | chr1:58745285-58745286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs114931499 | chr1:58745309-58745310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs115853010 | chr1:58745353-58745354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs535903582 | chr1:58745354-58745355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs545696 | chr1:58745403-58745404 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
19 | rs147643026 | chr1:58745429-58745430 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs535000555 | chr1:58745485-58745486 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs200621717 | chr1:58745487-58745488 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs182636433 | chr1:58745493-58745494 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs148750341 | chr1:58745497-58745498 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs76647950 | chr1:58745517-58745518 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs187602634 | chr1:58745557-58745558 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs116797552 | chr1:58745569-58745570 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs141923939 | chr1:58745572-58745573 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs192856965 | chr1:58745573-58745574 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs543099043 | chr1:58745579-58745580 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs559612182 | chr1:58745586-58745587 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs77925710 | chr1:58745590-58745591 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs78419172 | chr1:58745646-58745647 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs77106890 | chr1:58745647-58745648 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs543578314 | chr1:58745683-58745684 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs530831328 | chr1:58745704-58745705 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs373997000 | chr1:58745727-58745728 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs562229194 | chr1:58745729-58745730 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs550314425 | chr1:58745781-58745782 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs184233007 | chr1:58745831-58745832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs573838638 | chr1:58745833-58745834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs147923012 | chr1:58745836-58745837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs187463749 | chr1:58745860-58745861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs546253493 | chr1:58745865-58745866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs28596479 | chr1:58745888-58745889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs367610993 | chr1:58745931-58745932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs566212451 | chr1:58745952-58745953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs534914274 | chr1:58745958-58745959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs551698182 | chr1:58745977-58745978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs150093343 | chr1:58745986-58745987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs138430567 | chr1:58746007-58746008 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Papillary thyroid carcinoma | 21436994 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
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 |
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 |
Meckel-Gruber syndrome | 21572526 | CNVD |
Breast cancer | 16620391 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Breast cancer | 21509527 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Ovarian cancer | 21720365 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Cancer | 20164920 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:58724000-58759600 | Weak transcription | Ovary | ovary |
2 | chr1:58741800-58749600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
3 | chr1:58745200-58745400 | Weak transcription | Lung | lung |
4 | chr1:58745400-58745800 | ZNF genes & repeats | Lung | lung |
5 | chr1:58747600-58747800 | Bivalent Enhancer | Fetal Heart | heart |
6 | chr1:58747600-58750600 | Enhancers | Fetal Brain Male | brain |