Variant report
| Variant | esv3467770 |
|---|---|
| Chromosome Location | chr4:10146224-10146307 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:11 , 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 | chr4:10146200-10146350 | GM12872 | blood: | n/a | n/a |
| 2 | CTCF | chr4:10146200-10146350 | HEK293 | kidney: | n/a | n/a |
| 3 | CTCF | chr4:10146180-10146330 | K562 | blood: | n/a | n/a |
| 4 | CTCF | chr4:10146080-10146370 | GM12866 | blood: | n/a | n/a |
| 5 | CTCF | chr4:10146240-10146390 | GM12875 | blood: | n/a | n/a |
| 6 | CTCF | chr4:10146200-10146350 | GM12873 | blood: | n/a | n/a |
| 7 | CTCF | chr4:10146180-10146330 | GM12864 | blood: | n/a | n/a |
| 8 | CTCF | chr4:10146140-10146290 | RPTEC | kidney: | n/a | n/a |
| 9 | CTCF | chr4:10146240-10146390 | HCFaa | heart: | n/a | n/a |
| 10 | CTCF | chr4:10146160-10146310 | GM12864 | blood: | n/a | n/a |
| 11 | CTCF | chr4:10146260-10146410 | HBMEC | blood vessel: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:10141623..10144820-chr4:10145857..10148531,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000250393 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | rs547282562 | chr4:10146226-10146227 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs184795604 | chr4:10146229-10146230 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs75399931 | chr4:10146238-10146239 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs150046973 | chr4:10146239-10146240 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs561735137 | chr4:10146246-10146247 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs549091429 | chr4:10146276-10146277 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs145406792 | chr4:10146286-10146287 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs59223314 | chr4:10146287-10146288 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs188983563 | chr4:10146291-10146292 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs369123777 | chr4:10146302-10146303 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Colorectal cancer | 16272173 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| 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 |
| Prostate cancer | 18632612 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Autosomal-dominant microtia | 18179897 | CNVD |
| Glioma | 17123091 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:10142800-10151800 | Weak transcription | Spleen | Spleen |
| 2 | chr4:10143200-10149800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr4:10146200-10147000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
