Variant report
| Variant | esv17945 |
|---|---|
| Chromosome Location | chr1:175071475-175076204 |
| 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:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs541589450 | chr1:175071529-175071530 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561794071 | chr1:175071536-175071537 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147579949 | chr1:175071556-175071557 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs12088035 | chr1:175071568-175071569 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs374279532 | chr1:175071570-175071571 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs184683092 | chr1:175071583-175071584 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs565669086 | chr1:175075825-175075826 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs7552543 | chr1:175075826-175075827 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs537868599 | chr1:175075872-175075873 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs548442740 | chr1:175075873-175075874 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs143699844 | chr1:175075876-175075877 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2157566 | chr1:175075878-175075879 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs116200951 | chr1:175075894-175075895 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs570565603 | chr1:175075946-175075947 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191809051 | chr1:175075947-175075948 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs574472431 | chr1:175075969-175075970 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs552992161 | chr1:175075971-175075972 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs181316670 | chr1:175076033-175076034 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs542188418 | chr1:175076054-175076055 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs372120353 | chr1:175076074-175076075 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs553964173 | chr1:175076080-175076081 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185391797 | chr1:175076086-175076087 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs189802805 | chr1:175076090-175076091 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs544752737 | chr1:175076110-175076111 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs561473136 | chr1:175076128-175076129 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs373860560 | chr1:175076140-175076141 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs532283461 | chr1:175076157-175076158 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs115275658 | chr1:175076164-175076165 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs559417852 | chr1:175076165-175076166 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs377143638 | chr1:175076183-175076184 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs182095310 | chr1:175076184-175076185 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Autism | 22495311 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21183584 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Rett syndrome | 21593744 | CNVD |
| Cancer | 20164919 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Medulloblastoma | 21292688 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Cancer | 16751803 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chordoma | 18071362 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Trisomy 5 syndrome | 21098271 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Developmental delay | 21147756 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Glioblastoma multiforme | 17369134 | CNVD |
| Cancer | 17440070 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Autism | 22241247 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:175071400-175071600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr1:175075800-175076200 | Active TSS | K562 | blood |
