Variant report
Variant | esv3481766 |
---|---|
Chromosome Location | chr9:136863431-136864529 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr9:136858694..136861040-chr9:136863202..136865256,2 | MCF-7 | breast: | |
2 | chr9:136856689..136859629-chr9:136860948..136863697,2 | K562 | blood: | |
3 | chr9:136855434..136861951-chr9:136862866..136866695,10 | MCF-7 | breast: | |
4 | chr9:136741297..136743504-chr9:136863564..136865596,2 | MCF-7 | breast: | |
5 | chr9:136856397..136858189-chr9:136860981..136863697,2 | K562 | blood: | |
6 | chr9:136862110..136863707-chr9:136863725..136867446,4 | MCF-7 | breast: | |
7 | chr9:136862110..136863707-chr9:136863725..136867446,4 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000160293 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs545350058 | chr9:136863465-136863466 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs564490004 | chr9:136863470-136863471 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs576374651 | chr9:136863489-136863490 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs111163052 | chr9:136863585-136863586 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs564845537 | chr9:136863590-136863591 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs112676525 | chr9:136863595-136863596 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs188854322 | chr9:136863610-136863611 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs562044149 | chr9:136863614-136863615 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs56652894 | chr9:136863654-136863655 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs111162583 | chr9:136863668-136863669 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs192645832 | chr9:136863673-136863674 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs377570302 | chr9:136863683-136863684 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs111163053 | chr9:136863692-136863693 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs529404666 | chr9:136863728-136863729 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs541214063 | chr9:136863756-136863757 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs7041056 | chr9:136863771-136863772 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs12378335 | chr9:136863835-136863836 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs7041178 | chr9:136863849-136863850 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs7041181 | chr9:136863859-136863860 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs111070389 | chr9:136863932-136863933 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs374374785 | chr9:136863937-136863938 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs367949407 | chr9:136863947-136863948 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs184763556 | chr9:136864009-136864010 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs533432955 | chr9:136864020-136864021 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs190441816 | chr9:136864044-136864045 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs455740 | chr9:136864075-136864076 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs569606756 | chr9:136864136-136864137 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs530430490 | chr9:136864141-136864142 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs113831735 | chr9:136864172-136864173 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs549024251 | chr9:136864193-136864194 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs567361270 | chr9:136864201-136864202 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs461927 | chr9:136864216-136864217 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs461928 | chr9:136864232-136864233 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs553183352 | chr9:136864236-136864237 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs571500031 | chr9:136864237-136864238 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs556994750 | chr9:136864252-136864253 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs576338766 | chr9:136864270-136864271 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs567223393 | chr9:136864281-136864282 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs543460149 | chr9:136864323-136864324 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs465358 | chr9:136864351-136864352 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs463850 | chr9:136864352-136864353 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs555769893 | chr9:136864377-136864378 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs542722095 | chr9:136864439-136864440 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs541152998 | chr9:136864471-136864472 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs559488413 | chr9:136864473-136864474 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs533373530 | chr9:136864524-136864525 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Medulloblastoma | 21979893 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 16751803 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Leukemia | 17361228 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Glioblastoma | 16823260 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Brain cancer | 20823417 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Heart disease | 21282601 | CNVD |
Lung cancer | 18438408 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 18632612 | CNVD |
Cardiac fibroma | 18329553 | CNVD |
Lung cancer | 19147751 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 16585170 | CNVD |
Ependymoma | 19289631 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Cervical cancer | 17311676 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastric cancer | 17908304 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Chordoma | 18071362 | CNVD |
small cell lung cancer | 20016488 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Kleefstra Syndrome | 21538692 | CNVD |
Disorders of sex development | 22290220 | CNVD |
Cancer | 21183584 | CNVD |
Chronic myelomonocytic leukemia | 16760666 | CNVD |
Abnormal phenotypes | 18644119 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Tuberous sclerosis | 19566914 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20581869 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21509527 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Bladder cancer | 21909424 | CNVD |
Cancer | 17160897 | CNVD |
Ependymoma | 20639864 | CNVD |
Breast cancer | 20932292 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Idiopathic chronic pancreatitis | 21572526 | CNVD |
Kleefstra syndrome | 22670141 | CNVD |
Schizophrenia | 22241247 | CNVD |
9q deletion syndrome | 16826528 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Non-syndromic sensorineural hearing loss | 19293338 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Melanoma | 20877625 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:136859600-136864800 | Weak transcription | Fetal Lung | lung |
2 | chr9:136859600-136875400 | Weak transcription | Spleen | Spleen |
3 | chr9:136860000-136864000 | Weak transcription | Brain Germinal Matrix | brain |
4 | chr9:136860200-136864200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
5 | chr9:136860200-136865200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
6 | chr9:136860400-136864000 | Weak transcription | Fetal Brain Female | brain |
7 | chr9:136861000-136864800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr9:136862200-136868800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr9:136862400-136864200 | Weak transcription | HSMMtube | muscle |
10 | chr9:136862800-136864000 | Weak transcription | Fetal Muscle Leg | muscle |
11 | chr9:136862800-136864800 | Weak transcription | Fetal Muscle Trunk | muscle |
12 | chr9:136862800-136865800 | Enhancers | Fetal Brain Male | brain |
13 | chr9:136863400-136863600 | Enhancers | HSMM | muscle |
14 | chr9:136863600-136864000 | Weak transcription | HSMM | muscle |
15 | chr9:136864000-136864800 | Enhancers | Fetal Muscle Leg | muscle |
16 | chr9:136864000-136865400 | Enhancers | Fetal Brain Female | brain |
17 | chr9:136864000-136865600 | Enhancers | HSMM | muscle |
18 | chr9:136864000-136866000 | Enhancers | Brain Germinal Matrix | brain |
19 | chr9:136864200-136864800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
20 | chr9:136864200-136864800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
21 | chr9:136864200-136865600 | Enhancers | HSMMtube | muscle |
22 | chr9:136864400-136865400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
23 | chr9:136864400-136865600 | Enhancers | Fetal Stomach | stomach |