Variant report
| Variant | nsv329060 |
|---|---|
| Chromosome Location | chr5:179641117-179641139 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr5:179640626-179641159 | GM19239 | blood: | n/a | n/a |
| 2 | MAX | chr5:179640526-179641256 | NB4 | blood: | n/a | n/a |
| 3 | MYC | chr5:179640935-179641144 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 4 | NR2C2 | chr5:179640455-179641209 | GM12878 | blood: | n/a | n/a |
| 5 | POLR2A | chr5:179640945-179641173 | HepG2 | liver: | n/a | n/a |
| 6 | POLR2A | chr5:179640698-179641278 | H1-neurons | neurons: | n/a | n/a |
| 7 | SUZ12 | chr5:179640429-179641248 | H1-hESC | embryonic stem cell: | n/a | n/a |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RASGEF1C | TF binding region |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | rs36231868 | chr5:179641117-179641118 | ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs376277890 | chr5:179641120-179641121 | ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs535213709 | chr5:179641129-179641130 | ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:102)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Glioma | 20126413 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| epilepsy | 18472482 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Sotos syndrome | 21572526 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Sotos syndrome | 17561922 | CNVD |
| Sotos syndrome | 16773131 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Sotos syndrome | 22470819 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Chordoma | 18071362 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Lung cancer | 17297452 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21804112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Sotos syndrome | 22283845 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Sotos syndrome | 20503325 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Congenital Hypertrichosis Syndrome | 21636067 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Breast cancer | 19181860 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Ehlers-danlos syndrome | 17576883 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 19246517 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Autism | 20808228 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 22543975 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Melanoma | 20877625 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:179640400-179641200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr5:179640400-179645200 | Weak transcription | Brain Angular Gyrus | brain |
| 3 | chr5:179640600-179641200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr5:179640600-179641200 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
| 5 | chr5:179640600-179641200 | ZNF genes & repeats | Fetal Kidney | kidney |
| 6 | chr5:179640600-179641200 | ZNF genes & repeats | Pancreas | Pancrea |
| 7 | chr5:179640800-179641200 | Bivalent/Poised TSS | Fetal Lung | lung |
| 8 | chr5:179641000-179641200 | Flanking Bivalent TSS/Enh | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 9 | chr5:179641000-179641200 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
