Variant report
Variant | esv1794604 |
---|---|
Chromosome Location | chr19:44958384-44959866 |
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 | rs204528 | chr19:44958384-44958385 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs570958339 | chr19:44958393-44958394 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs186871826 | chr19:44958405-44958406 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs204527 | chr19:44958413-44958414 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
5 | rs112966944 | chr19:44958414-44958415 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs146757285 | chr19:44958425-44958426 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs74791516 | chr19:44958436-44958437 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs77967946 | chr19:44958438-44958439 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs201449605 | chr19:44958440-44958441 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574970778 | chr19:44958443-44958444 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs553238602 | chr19:44958484-44958485 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs566658724 | chr19:44958518-44958519 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs375446549 | chr19:44958519-44958520 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs535794779 | chr19:44958540-44958541 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs190315179 | chr19:44958567-44958568 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs200073711 | chr19:44958570-44958571 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs542268686 | chr19:44958586-44958587 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs115277053 | chr19:44958600-44958601 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs204526 | chr19:44958609-44958610 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs202075258 | chr19:44958612-44958613 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs201598515 | chr19:44958636-44958637 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs572369862 | chr19:44958646-44958647 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs577353027 | chr19:44958654-44958655 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs539930817 | chr19:44958668-44958669 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560363794 | chr19:44958674-44958675 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs573497698 | chr19:44958683-44958684 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs529452078 | chr19:44958684-44958685 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs181176423 | chr19:44958699-44958700 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs199887022 | chr19:44958729-44958730 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs200983667 | chr19:44958731-44958732 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs543168793 | chr19:44958740-44958741 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs563056580 | chr19:44958765-44958766 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs536042943 | chr19:44958782-44958783 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs540163803 | chr19:44958801-44958802 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs202125591 | chr19:44958806-44958807 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs181967017 | chr19:44958808-44958809 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs551510874 | chr19:44958823-44958824 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs145660469 | chr19:44958824-44958825 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs77610797 | chr19:44958848-44958849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs76378050 | chr19:44958854-44958855 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs201993460 | chr19:44958892-44958893 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs565142018 | chr19:44958904-44958905 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs547907677 | chr19:44958920-44958921 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs185126512 | chr19:44958923-44958924 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs187428430 | chr19:44958927-44958928 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs555511714 | chr19:44958938-44958939 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374836834 | chr19:44958939-44958940 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs532255135 | chr19:44958948-44958949 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs77302394 | chr19:44958954-44958955 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs204525 | chr19:44958955-44958956 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
renal disease | 20603712 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21364760 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Wilms tumour | 21544195 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Bladder cancer | 21909424 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Astrocytoma | 22246337 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Cancer | 20164920 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Ovarian cancer | 20800559 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Spondylocostal dysostosis | 21085971 | CNVD |
Nicotine metabolism | 21956041 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:44948200-44959800 | ZNF genes & repeats | Liver | Liver |
2 | chr19:44955200-44959800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
3 | chr19:44959000-44959400 | Weak transcription | Stomach Mucosa | stomach |
4 | chr19:44959000-44960000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
5 | chr19:44959400-44959800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
6 | chr19:44959400-44959800 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
7 | chr19:44959400-44959800 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
8 | chr19:44959400-44959800 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
9 | chr19:44959400-44959800 | ZNF genes & repeats | Colon Smooth Muscle | Colon |
10 | chr19:44959400-44959800 | ZNF genes & repeats | Stomach Mucosa | stomach |
11 | chr19:44959800-44961000 | Weak transcription | Adipose Nuclei | Adipose |
12 | chr19:44959800-44961000 | Weak transcription | Brain Hippocampus Middle | brain |
13 | chr19:44959800-44961200 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
14 | chr19:44959800-44961200 | Weak transcription | Colon Smooth Muscle | Colon |
15 | chr19:44959800-44961200 | Weak transcription | Stomach Mucosa | stomach |