Variant report
Variant | nsv526799 |
---|---|
Chromosome Location | chr9:24332121-24385357 |
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 | rs12345327 | chr9:24332121-24332122 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs150453701 | chr9:24332150-24332151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs10117626 | chr9:24332192-24332193 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs527826032 | chr9:24332196-24332197 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs13287184 | chr9:24332200-24332201 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs182519710 | chr9:24332209-24332210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs16908241 | chr9:24332239-24332240 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs112837506 | chr9:24332261-24332262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs569971048 | chr9:24332267-24332268 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs532106532 | chr9:24332297-24332298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs10120558 | chr9:24332340-24332341 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs185323691 | chr9:24332406-24332407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs149641616 | chr9:24332439-24332440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs191014554 | chr9:24332510-24332511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs143372135 | chr9:24332515-24332516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs536450599 | chr9:24332543-24332544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs184060775 | chr9:24332551-24332552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs576368184 | chr9:24332564-24332565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs544996415 | chr9:24332576-24332577 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs188986009 | chr9:24332598-24332599 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs140555273 | chr9:24351201-24351202 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs78514424 | chr9:24351216-24351217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs145637456 | chr9:24351252-24351253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs116161616 | chr9:24351259-24351260 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs16908280 | chr9:24351268-24351269 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs540069879 | chr9:24351271-24351272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs553678602 | chr9:24351273-24351274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs181745798 | chr9:24351278-24351279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs536158971 | chr9:24351285-24351286 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs113461418 | chr9:24351312-24351313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs575618134 | chr9:24351331-24351332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs572796461 | chr9:24351333-24351334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs544266485 | chr9:24351359-24351360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs186764704 | chr9:24351374-24351375 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs539803842 | chr9:24351380-24351381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs561805086 | chr9:24351453-24351454 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs16908284 | chr9:24351523-24351524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs540084899 | chr9:24351560-24351561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs560385612 | chr9:24351584-24351585 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191834800 | chr9:24351586-24351587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs142866334 | chr9:24351601-24351602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs16908291 | chr9:24351621-24351622 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs150632839 | chr9:24351632-24351633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs374500775 | chr9:24351670-24351671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs571392337 | chr9:24351686-24351687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs183194233 | chr9:24351691-24351692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs186448688 | chr9:24351693-24351694 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs567059989 | chr9:24351695-24351696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs10121862 | chr9:24351701-24351702 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs371228392 | chr9:24351738-24351739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | 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 |
Oral squamous cell carcinoma | 17134496 | 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 |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Developmental delay | 21147756 | CNVD |
Pilocytic astrocytoma | 18670637 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Melanoma | 22183965 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Cancer | 22183965 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Glioblastoma multiforme | 22291905 | CNVD |
Lung cancer | 21911935 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
head and neck squamous cell carcinoma | 21798897 | CNVD |
Cancer | 21253487 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Glioma | 17123091 | CNVD |
Mental retardation | 17124404 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Acute lymphoblastic leukemia | 18768390 | CNVD |
Leukemia | 19602459 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Leukemia | 18688285 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
Coronary Disease | 20032323 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21732550 | CNVD |
Gastric cancer | 22539939 | CNVD |
Cancer | 21183584 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cervical cancer | 21062161 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Glioblastoma | 17090523 | CNVD |
Lung cancer | 16773561 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Bladder cancer | 19088036 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 16977458 | CNVD |
Glioblastoma multiforme | 17369134 | CNVD |
Chagasic megaesophagus | 20163722 | CNVD |
Melanoma | 19566914 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Hodgkin''s lymphoma | 18179710 | CNVD |
Melanoma | 17363583 | CNVD |
Glioblastoma multiforme | 19115005 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Oral cancer | 21386901 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21364760 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:24331200-24332600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
2 | chr9:24351200-24352000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr9:24351400-24353000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr9:24353000-24354200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
5 | chr9:24354200-24355400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr9:24374800-24375400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr9:24375400-24377000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr9:24377000-24377200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
9 | chr9:24379600-24379800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr9:24380000-24381200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
11 | chr9:24381000-24381400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr9:24381000-24381600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
13 | chr9:24381200-24381600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
14 | chr9:24381200-24381800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
15 | chr9:24381200-24381800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
16 | chr9:24381200-24382000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
17 | chr9:24381200-24382000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
18 | chr9:24381800-24382400 | Enhancers | Fetal Brain Female | brain |
19 | chr9:24382000-24382800 | Enhancers | Fetal Brain Male | brain |