Variant report
Variant | nsv611252 |
---|---|
Chromosome Location | chr8:47368394-47388121 |
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 | rs151142087 | chr8:47368394-47368395 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs192444852 | chr8:47368398-47368399 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs369116965 | chr8:47368404-47368405 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs139403627 | chr8:47368423-47368424 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs540596297 | chr8:47368435-47368436 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs376292508 | chr8:47368439-47368440 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs560838598 | chr8:47368464-47368465 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs558084943 | chr8:47368517-47368518 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs571775160 | chr8:47368519-47368520 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs533029233 | chr8:47368520-47368521 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs200304215 | chr8:47368546-47368547 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs574193859 | chr8:47368547-47368548 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs543166905 | chr8:47368569-47368570 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs10109390 | chr8:47368570-47368571 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs76230569 | chr8:47368594-47368595 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs79262176 | chr8:47368595-47368596 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs556174895 | chr8:47368597-47368598 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs549651314 | chr8:47368598-47368599 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs74764743 | chr8:47368616-47368617 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs551816823 | chr8:47368629-47368630 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs78406068 | chr8:47368632-47368633 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs565314398 | chr8:47368654-47368655 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs527665795 | chr8:47368662-47368663 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs547413311 | chr8:47368673-47368674 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs567508534 | chr8:47368684-47368685 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs536059262 | chr8:47368699-47368700 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs185396634 | chr8:47368705-47368706 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs549536506 | chr8:47368717-47368718 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs569428172 | chr8:47368724-47368725 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs538379817 | chr8:47368739-47368740 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs141770674 | chr8:47368740-47368741 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190641140 | chr8:47368744-47368745 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs147082149 | chr8:47368749-47368750 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs554179297 | chr8:47368761-47368762 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs571327148 | chr8:47368773-47368774 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs149162961 | chr8:47368779-47368780 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs543267694 | chr8:47368795-47368796 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs563040277 | chr8:47368822-47368823 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs181527775 | chr8:47368872-47368873 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs143263004 | chr8:47368881-47368882 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs569629205 | chr8:47368895-47368896 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs535390201 | chr8:47368965-47368966 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs79203288 | chr8:47368978-47368979 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs187120702 | chr8:47369012-47369013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs547720232 | chr8:47369020-47369021 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs561044974 | chr8:47369021-47369022 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs529965667 | chr8:47369056-47369057 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs549648909 | chr8:47369070-47369071 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs555408440 | chr8:47369095-47369096 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs189495771 | chr8:47369096-47369097 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Oral cancer | 21386901 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Lung cancer | 18438408 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
abnormal development | 18461090 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 20409316 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:47363600-47369200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
2 | chr8:47368400-47368800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
3 | chr8:47368600-47371200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr8:47370600-47373000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
5 | chr8:47371600-47372400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
6 | chr8:47372000-47379600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr8:47372600-47380800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
8 | chr8:47376800-47377000 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
9 | chr8:47379600-47381000 | ZNF genes & repeats | Liver | Liver |
10 | chr8:47381600-47382200 | ZNF genes & repeats | Liver | Liver |
11 | chr8:47382000-47394000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr8:47382400-47386000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
13 | chr8:47383200-47391800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
14 | chr8:47383800-47390200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
15 | chr8:47384600-47393000 | ZNF genes & repeats | Liver | Liver |
16 | chr8:47385200-47386000 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
17 | chr8:47387200-47387800 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |