Variant report
| Variant | esv996632 |
|---|---|
| Chromosome Location | chr2:36336364-36345985 |
| 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)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs148174467 | chr2:36345609-36345610 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs141942605 | chr2:36345612-36345613 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554189424 | chr2:36345617-36345618 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541492458 | chr2:36345626-36345627 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs150676964 | chr2:36345644-36345645 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs571888150 | chr2:36345645-36345646 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs138896070 | chr2:36345656-36345657 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs564031187 | chr2:36345658-36345659 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs141585313 | chr2:36345659-36345660 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs550150438 | chr2:36345682-36345683 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561907057 | chr2:36345702-36345703 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs529403321 | chr2:36345709-36345710 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs56391600 | chr2:36345738-36345739 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs547893162 | chr2:36345771-36345772 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs80001031 | chr2:36345782-36345783 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs146218609 | chr2:36345821-36345822 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs75629918 | chr2:36345833-36345834 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs185571110 | chr2:36345888-36345889 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs537318921 | chr2:36345894-36345895 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs190444338 | chr2:36345912-36345913 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs181633544 | chr2:36345915-36345916 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs532394782 | chr2:36345916-36345917 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs535201917 | chr2:36345918-36345919 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs139080958 | chr2:36345919-36345920 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs571951561 | chr2:36345961-36345962 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs547799587 | chr2:36345972-36345973 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs545604758 | chr2:36345975-36345976 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22495309 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:36345600-36346400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
