Variant report
Variant | nsv527572 |
---|---|
Chromosome Location | chr6:58714937-58770624 |
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 | rs549500270 | chr6:58748808-58748809 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs201840303 | chr6:58748836-58748837 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs111538414 | chr6:58748838-58748839 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs564939572 | chr6:58748848-58748849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs532681224 | chr6:58748866-58748867 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs111234928 | chr6:58748873-58748874 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs199618361 | chr6:58748874-58748875 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs548087653 | chr6:58748885-58748886 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs188290468 | chr6:58748890-58748891 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs567780364 | chr6:58748900-58748901 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs72872179 | chr6:58748901-58748902 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs570154450 | chr6:58748909-58748910 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs187237246 | chr6:58748952-58748953 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547279943 | chr6:58748964-58748965 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs537600030 | chr6:58748996-58748997 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs558658533 | chr6:58749022-58749023 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs535623279 | chr6:58749050-58749051 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs113370737 | chr6:58749067-58749068 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs192438512 | chr6:58749085-58749086 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs538521739 | chr6:58749100-58749101 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs112747470 | chr6:58749168-58749169 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs535674458 | chr6:58749202-58749203 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs571861272 | chr6:58749219-58749220 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs542420373 | chr6:58749220-58749221 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs549132141 | chr6:58749228-58749229 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs368565470 | chr6:58749235-58749236 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs138499487 | chr6:58749256-58749257 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs543540868 | chr6:58749258-58749259 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs564693765 | chr6:58749263-58749264 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs532158778 | chr6:58749272-58749273 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs183336322 | chr6:58749274-58749275 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs537928012 | chr6:58749279-58749280 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs560099305 | chr6:58749302-58749303 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs530458348 | chr6:58749324-58749325 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs548799097 | chr6:58749336-58749337 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs570260523 | chr6:58749356-58749357 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs187134281 | chr6:58749372-58749373 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs114735622 | chr6:58749375-58749376 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs577963358 | chr6:58749381-58749382 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs112140521 | chr6:58749382-58749383 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs535020521 | chr6:58749384-58749385 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs73481507 | chr6:58749391-58749392 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs565626684 | chr6:58749392-58749393 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs554039640 | chr6:58749425-58749426 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs150199882 | chr6:58749426-58749427 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs576202740 | chr6:58749440-58749441 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs543125289 | chr6:58749444-58749445 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs558625238 | chr6:58749450-58749451 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs573958023 | chr6:58749454-58749455 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs576724991 | chr6:58749486-58749487 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastric cancer | 17908304 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:58748800-58750400 | ZNF genes & repeats | Liver | Liver |
2 | chr6:58762800-58763200 | ZNF genes & repeats | Liver | Liver |
3 | chr6:58764600-58765800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr6:58765200-58769400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr6:58768000-58771000 | ZNF genes & repeats | Liver | Liver |
6 | chr6:58769400-58769800 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr6:58769600-58770000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
8 | chr6:58769800-58773600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
9 | chr6:58770000-58773400 | Weak transcription | Aorta | Aorta |
10 | chr6:58770600-58770800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |