Variant report
| Variant | esv1030927 |
|---|---|
| Chromosome Location | chr6:30066902-30066914 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:30039673..30045870-chr6:30065915..30071954,9 | MCF-7 | breast: | |
| 2 | chr6:30031856..30036259-chr6:30064937..30071315,10 | MCF-7 | breast: | |
| 3 | chr6:30027914..30030220-chr6:30065122..30067982,3 | MCF-7 | breast: | |
| 4 | chr6:30059482..30063646-chr6:30064744..30071169,8 | MCF-7 | breast: | |
| 5 | chr6:30043035..30044565-chr6:30066202..30069074,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000204623 | chromatin interactions |
| ENSG00000204618 | chromatin interactions |
| ENSG00000204619 | chromatin interactions |
| ENSG00000066379 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs555952546 | chr6:30066904-30066905 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 2 | rs56292230 | chr6:30066905-30066906 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 3 | rs201068977 | chr6:30066907-30066908 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 4 | rs55973185 | chr6:30066910-30066911 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 5 | rs79406827 | chr6:30066913-30066914 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 6 | rs9280890 | chr6:30066914-30066915 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:111)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Autism | 21448237 | CNVD |
| Cancer | 20164919 | CNVD |
| Melanoma | 18172304 | CNVD |
| Breast cancer | 22844521 | CNVD |
| HIV/AIDS | 22844521 | CNVD |
| Ovarian cancer | 22844521 | CNVD |
| Prostate cancer | 22844521 | CNVD |
| Psoriasis | 22844521 | CNVD |
| Rheumatoid arthritis | 22844521 | CNVD |
| Sclerosis systemic | 22844521 | CNVD |
| Systemic lupus erythematosus | 22844521 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 21552322 | CNVD |
| Immune disease | 21076436 | CNVD |
| Autoimmune disease | 19135723 | CNVD |
| Systemic lupus erythematosus | 17953491 | CNVD |
| Recurrent Infections | 22737222 | CNVD |
| Systemic lupus erythematosus | 21904924 | CNVD |
| Ependymoma | 19289631 | CNVD |
| Gestational infection | 22844521 | CNVD |
| Head circumference | 22844521 | CNVD |
| Infertility | 22844521 | CNVD |
| Recurrent birth weight diabetes | 22844521 | CNVD |
| Obesity | 22844521 | CNVD |
| Recurrent pregnancy loss | 22844521 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Nasopharyngeal cancer | 22815911 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 16790693 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Retinoblastoma | 16790693 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Cancer | 21183584 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Schizophrenia | 19571809 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Melanoma | 17363583 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Systemic lupus erythematosus | 20877625 | CNVD |
| Cleidocranial dysplasia | 18696259 | CNVD |
| Holoprosencephaly | 21359414 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:30062000-30067000 | Enhancers | Fetal Intestine Small | intestine |
| 2 | chr6:30062200-30067800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr6:30063400-30068400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr6:30063600-30068200 | Weak transcription | HMEC | breast |
| 5 | chr6:30063800-30068000 | Weak transcription | Lung | lung |
| 6 | chr6:30064000-30068000 | Enhancers | HepG2 | liver |
| 7 | chr6:30064400-30067000 | Enhancers | Primary T cells from cord blood | blood |
| 8 | chr6:30064800-30067200 | Enhancers | K562 | blood |
| 9 | chr6:30064800-30068400 | Bivalent Enhancer | Fetal Intestine Large | intestine |
| 10 | chr6:30064800-30069600 | Bivalent Enhancer | Fetal Thymus | thymus |
| 11 | chr6:30065400-30068800 | Weak transcription | Gastric | stomach |
| 12 | chr6:30066200-30068000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 13 | chr6:30066200-30068200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 14 | chr6:30066600-30067800 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 15 | chr6:30066800-30067800 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
