Variant report
| Variant | nsv526159 |
|---|---|
| Chromosome Location | chr4:15942802-15943140 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr4:15934291-15944634 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:15941251..15943362-chr4:15944391..15946203,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| FGFBP1 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs3822253 | chr4:15942802-15942803 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
| 2 | rs369826012 | chr4:15942819-15942820 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs566784049 | chr4:15942827-15942828 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs1558198 | chr4:15942832-15942833 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
| 5 | rs115610800 | chr4:15942868-15942869 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs28736332 | chr4:15942871-15942872 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs115104318 | chr4:15942888-15942889 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs28524949 | chr4:15942892-15942893 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs577340501 | chr4:15942956-15942957 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs1558197 | chr4:15942964-15942965 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs553814962 | chr4:15942994-15942995 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs151066225 | chr4:15943025-15943026 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs28412795 | chr4:15943082-15943083 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs542603263 | chr4:15943094-15943095 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs562640216 | chr4:15943126-15943127 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs10939642 | chr4:15943140-15943141 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| Disease | PMID | Source |
|---|---|---|
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Breast cancer | 17133270 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:15940000-15950600 | Weak transcription | Esophagus | oesophagus |
| 2 | chr4:15940200-15983600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 3 | chr4:15941000-15953400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
