Variant report
Variant | nsv969774 |
---|---|
Chromosome Location | chr9:10011936-10016071 |
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 | rs527619754 | chr9:10011939-10011940 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs144269761 | chr9:10011948-10011949 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs570800726 | chr9:10011963-10011964 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs533362291 | chr9:10011972-10011973 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs74526073 | chr9:10011984-10011985 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs560330615 | chr9:10011994-10011995 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs113491760 | chr9:10012040-10012041 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs535636177 | chr9:10012057-10012058 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs192613223 | chr9:10012076-10012077 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs142249268 | chr9:10012086-10012087 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376566552 | chr9:10012090-10012091 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs10755990 | chr9:10012093-10012094 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs111365006 | chr9:10012149-10012150 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs139749107 | chr9:10012158-10012159 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs562637262 | chr9:10012247-10012248 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs576241286 | chr9:10012256-10012257 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs542025872 | chr9:10012266-10012267 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs531198905 | chr9:10012279-10012280 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561914250 | chr9:10012280-10012281 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs572298060 | chr9:10012285-10012286 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs553861104 | chr9:10012299-10012300 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs10809006 | chr9:10012304-10012305 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs71497167 | chr9:10012305-10012306 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs146640872 | chr9:10012349-10012350 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs548818390 | chr9:10012361-10012362 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs549796488 | chr9:10012363-10012364 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs563418011 | chr9:10012404-10012405 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs10755991 | chr9:10012424-10012425 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs532337888 | chr9:10012425-10012426 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs183667710 | chr9:10012447-10012448 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs566100211 | chr9:10012456-10012457 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs372919239 | chr9:10012466-10012467 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs547579306 | chr9:10012495-10012496 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs188387239 | chr9:10012518-10012519 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs181201115 | chr9:10012525-10012526 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs571925302 | chr9:10012543-10012544 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539049130 | chr9:10012595-10012596 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs556224945 | chr9:10012620-10012621 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs10809007 | chr9:10012626-10012627 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs535587322 | chr9:10012627-10012628 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs141025729 | chr9:10012631-10012632 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs7860568 | chr9:10012637-10012638 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs150247531 | chr9:10012646-10012647 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs376055044 | chr9:10012660-10012661 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs564207746 | chr9:10012661-10012662 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs185845279 | chr9:10012671-10012672 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs543407633 | chr9:10012713-10012714 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs563381739 | chr9:10012724-10012725 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs558764214 | chr9:10012738-10012739 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs529258186 | chr9:10012755-10012756 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
abnormal development | 18461090 | CNVD |
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 |
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 |
XY gonadal dysgenesis | 20685758 | 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 |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Lung cancer | 20668451 | CNVD |
Schizophrenia | 20838587 | CNVD |
Glioblastoma | 18772890 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 20858261 | CNVD |
Epilepsy | 20858261 | CNVD |
Mental retardation | 20858261 | 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 |
Lung adenocarcinoma | 17982442 | CNVD |
Breast cancer | 21611746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:10007200-10012400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
2 | chr9:10008200-10012800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
3 | chr9:10008600-10013000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
4 | chr9:10008600-10013400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr9:10009400-10012600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
6 | chr9:10009400-10012800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr9:10011800-10012400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
8 | chr9:10011800-10012600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
9 | chr9:10012400-10013000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr9:10012400-10013800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
11 | chr9:10012600-10012800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
12 | chr9:10012600-10013400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
13 | chr9:10013000-10014000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
14 | chr9:10013400-10014200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
15 | chr9:10013800-10014000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
16 | chr9:10014000-10014200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
17 | chr9:10014200-10014600 | Enhancers | HUES48 Cell Line | embryonic stem cell |