Variant report
| Variant | nsv821756 |
|---|---|
| Chromosome Location | chr2:152157293-152158003 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:152149114..152151846-chr2:152155576..152158199,2 | K562 | blood: | |
| 2 | chr2:152157470..152161294-chr2:152162046..152164372,3 | MCF-7 | breast: | |
| 3 | chr2:152147623..152151846-chr2:152155576..152159756,4 | K562 | blood: | |
| 4 | chr2:152145283..152147582-chr2:152156241..152158762,4 | K562 | blood: | |
| 5 | chr2:152154122..152156029-chr2:152157946..152160743,2 | MCF-7 | breast: | |
| 6 | chr2:152153051..152154778-chr2:152157552..152159537,2 | K562 | blood: | |
| 7 | chr2:152153051..152155912-chr2:152157552..152160474,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000123609 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs559621282 | chr2:152157300-152157301 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs10194633 | chr2:152157308-152157309 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs548814724 | chr2:152157319-152157320 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs112505329 | chr2:152157341-152157342 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs565619178 | chr2:152157364-152157365 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs377263915 | chr2:152157371-152157372 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs528383607 | chr2:152157374-152157375 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs550932830 | chr2:152157379-152157380 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs181889515 | chr2:152157445-152157446 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs537106864 | chr2:152157471-152157472 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs556771560 | chr2:152157515-152157516 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs186454402 | chr2:152157566-152157567 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs141451536 | chr2:152157567-152157568 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs536818666 | chr2:152157612-152157613 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs61132133 | chr2:152157679-152157680 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs573544352 | chr2:152157728-152157729 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs545740058 | chr2:152157763-152157764 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs6705180 | chr2:152157792-152157793 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 19 | rs575559736 | chr2:152157796-152157797 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs375423383 | chr2:152157854-152157855 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs528557491 | chr2:152157883-152157884 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs544637883 | chr2:152157884-152157885 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs6708382 | chr2:152157904-152157905 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 24 | rs189688975 | chr2:152157913-152157914 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs570133367 | chr2:152157962-152157963 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs199738457 | chr2:152157970-152157971 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs35473321 | chr2:152157972-152157973 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs6708492 | chr2:152157973-152157974 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 29 | rs182717184 | chr2:152157994-152157995 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mental retardation | 22214275 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 19156171 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Autism | 20808228 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:152149400-152158800 | Weak transcription | K562 | blood |
| 2 | chr2:152152600-152158600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr2:152155800-152159400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
| 4 | chr2:152157000-152158800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 5 | chr2:152157000-152158800 | Weak transcription | NHDF-Ad | bronchial |
