Variant report
Variant | esv6559 |
---|---|
Chromosome Location | chr9:136870468-136870679 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:3 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000160293 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs80222930 | chr9:136870480-136870481 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs78412250 | chr9:136870487-136870488 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs117594071 | chr9:136870488-136870489 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs547970511 | chr9:136870525-136870526 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs559926664 | chr9:136870553-136870554 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs560641221 | chr9:136870566-136870567 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs143505796 | chr9:136870588-136870589 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs188501145 | chr9:136870589-136870590 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs77567738 | chr9:136870625-136870626 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs549060060 | chr9:136870650-136870651 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs445609 | chr9:136870667-136870668 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
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 | chr9:136859600-136875400 | Weak transcription | Spleen | Spleen |
2 | chr9:136865400-136872200 | Weak transcription | Fetal Brain Female | brain |
3 | chr9:136865400-136872400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
4 | chr9:136868800-136870800 | Enhancers | Fetal Muscle Leg | muscle |
5 | chr9:136869800-136871200 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
6 | chr9:136870400-136870600 | Bivalent Enhancer | HepG2 | liver |
7 | chr9:136870400-136870800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr9:136870400-136870800 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |