Variant report
| Variant | esv3359415 |
|---|---|
| Chromosome Location | chr6:2208317-2208493 |
| 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 | chr6:2207154..2208883-chr6:2356432..2359117,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs372695252 | chr6:2208324-2208325 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs234916 | chr6:2208328-2208329 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs535156678 | chr6:2208331-2208332 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568175405 | chr6:2208342-2208343 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs9392372 | chr6:2208360-2208361 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs547943250 | chr6:2208366-2208367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570935843 | chr6:2208374-2208375 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs540057837 | chr6:2208408-2208409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs9405548 | chr6:2208409-2208410 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs72494600 | chr6:2208434-2208435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs537060589 | chr6:2208465-2208466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs535393906 | chr6:2208468-2208469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs555408458 | chr6:2208488-2208489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| Disease | PMID | Source |
|---|---|---|
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Prader-willi syndrome | 20588305 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Cancer | 21183584 | CNVD |
| Multiple Epiphyseal Dysplasia | 20877625 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Glaucoma | 18694899 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Leukemia | 21518781 | CNVD |
| Cancer | 21637783 | CNVD |
| Facial dysmorphism | 22105932 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Malaria | 21533027 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 21448237 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:2192800-2222000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 2 | chr6:2193800-2216800 | Weak transcription | Gastric | stomach |
| 3 | chr6:2197400-2222000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 4 | chr6:2197800-2209400 | Weak transcription | Stomach Mucosa | stomach |
| 5 | chr6:2203000-2209600 | Weak transcription | Psoas Muscle | Psoas |
| 6 | chr6:2204200-2208600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 7 | chr6:2207000-2222000 | Weak transcription | Fetal Intestine Small | intestine |
| 8 | chr6:2207600-2209400 | Weak transcription | HepG2 | liver |
| 9 | chr6:2208200-2208400 | Enhancers | Sigmoid Colon | Sigmoid Colon |
| 10 | chr6:2208400-2222000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
