Variant report
| Variant | esv3520764 |
|---|---|
| Chromosome Location | chr4:16324941-16325452 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:16319018..16321185-chr4:16323184..16326091,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 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 | rs527415830 | chr4:16324946-16324947 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4586928 | chr4:16324991-16324992 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs567094455 | chr4:16324995-16324996 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs535772213 | chr4:16325008-16325009 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs185785198 | chr4:16325033-16325034 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569234038 | chr4:16325129-16325130 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs538256885 | chr4:16325161-16325162 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs2002231 | chr4:16325218-16325219 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144703110 | chr4:16325281-16325282 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs578127857 | chr4:16325318-16325319 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs148478981 | chr4:16325337-16325338 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73798734 | chr4:16325338-16325339 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs4066790 | chr4:16325339-16325340 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs542508994 | chr4:16325349-16325350 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs111263145 | chr4:16325377-16325378 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs531181894 | chr4:16325381-16325382 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| 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 |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:16322400-16325000 | Weak transcription | Brain Anterior Caudate | brain |
| 2 | chr4:16323800-16325000 | Enhancers | H9 Cell Line | embryonic stem cell |
| 3 | chr4:16323800-16325000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr4:16324400-16325800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr4:16324600-16325000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr4:16324800-16325200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 7 | chr4:16325000-16331200 | Weak transcription | H9 Cell Line | embryonic stem cell |
