Variant report
Variant | nsv1024897 |
---|---|
Chromosome Location | chr9:11623397-11681143 |
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 | rs564836670 | chr9:11625826-11625827 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs2244547 | chr9:11625854-11625855 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs538775551 | chr9:11625884-11625885 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs558261283 | chr9:11625888-11625889 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs73643982 | chr9:11625890-11625891 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs574879116 | chr9:11625921-11625922 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs564924954 | chr9:11625933-11625934 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs554862757 | chr9:11625951-11625952 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574656107 | chr9:11626006-11626007 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs540702366 | chr9:11626030-11626031 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376766570 | chr9:11626037-11626038 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs370900013 | chr9:11626039-11626040 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs374051778 | chr9:11626046-11626047 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs527633996 | chr9:11626057-11626058 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs576922529 | chr9:11626077-11626078 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs546318311 | chr9:11626078-11626079 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187630507 | chr9:11626100-11626101 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs576386188 | chr9:11626101-11626102 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs1020295 | chr9:11626108-11626109 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs561152486 | chr9:11626136-11626137 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs149000581 | chr9:11626148-11626149 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs77550088 | chr9:11626154-11626155 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs376627024 | chr9:11626180-11626181 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs368807338 | chr9:11626192-11626193 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs546813606 | chr9:11626221-11626222 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs142109430 | chr9:11626226-11626227 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs7470671 | chr9:11626229-11626230 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs192890840 | chr9:11626272-11626273 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs373904728 | chr9:11626273-11626274 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs1822391 | chr9:11626303-11626304 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs537860361 | chr9:11626382-11626383 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs547814476 | chr9:11626426-11626427 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs568391180 | chr9:11626434-11626435 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs78483555 | chr9:11626437-11626438 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs534266997 | chr9:11626440-11626441 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs553937055 | chr9:11626442-11626443 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs577376875 | chr9:11626443-11626444 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs539501066 | chr9:11626469-11626470 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs112565336 | chr9:11626495-11626496 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs61001129 | chr9:11626496-11626497 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs556635619 | chr9:11626498-11626499 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs117006977 | chr9:11626521-11626522 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs185884255 | chr9:11626530-11626531 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs188599862 | chr9:11626585-11626586 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs192738538 | chr9:11626586-11626587 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs139046213 | chr9:11626592-11626593 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs531851482 | chr9:11626603-11626604 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs552592522 | chr9:11626630-11626631 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs560343829 | chr9:11626631-11626632 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs542418866 | chr9:11626636-11626637 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Disorders of sex development | 21048976 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lung cancer | 16740712 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
abnormal development | 18461090 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 16608533 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16272173 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Cervical cancer | 21063398 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Melanoma | 18172304 | CNVD |
Biliary cancer | 19435499 | CNVD |
Gastric cancer | 21586687 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myopathy | 18421352 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Acute lymphoblastic leukemia | 18957548 | CNVD |
Myeloproliferative neoplasm | 17564968 | CNVD |
Malignant meningioma | 17937814 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chordoma | 18071362 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Oral cancer | 21386901 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma | 19074898 | CNVD |
Malignant melanoma | 19074898 | CNVD |
Prostate cancer | 16573809 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Cancer | 20164920 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 21764851 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Gastric cancer | 16891809 | CNVD |
Mental retardation | 17847001 | CNVD |
Cutaneous squamous cell carcinomas | 17420988 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pilocytic astrocytoma | 18670637 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21611746 | CNVD |
Melanoma | 22183965 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Schizophrenia | 18511947 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:11625800-11627800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr9:11631200-11632200 | Enhancers | Fetal Brain Male | brain |
3 | chr9:11631400-11632000 | Enhancers | Fetal Brain Female | brain |
4 | chr9:11632000-11633000 | Weak transcription | Fetal Brain Female | brain |
5 | chr9:11632200-11633200 | Weak transcription | Fetal Brain Male | brain |
6 | chr9:11633000-11633200 | Enhancers | Fetal Brain Female | brain |
7 | chr9:11633200-11633600 | Enhancers | Fetal Brain Male | brain |
8 | chr9:11650200-11650600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
9 | chr9:11656000-11656800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |