Variant report
Variant | esv2416381 |
---|---|
Chromosome Location | chr6:49563654-49564061 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:49524843..49527402-chr6:49563195..49565478,2 | MCF-7 | breast: | |
2 | chr6:49561467..49563858-chr6:49563935..49566461,2 | K562 | blood: | |
3 | chr6:49540165..49543032-chr6:49562868..49565435,2 | K562 | blood: | |
4 | chr6:49561467..49563858-chr6:49563935..49566461,2 | K562 | blood: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs191950589 | chr6:49563655-49563656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs71002670 | chr6:49563667-49563668 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs12202761 | chr6:49563668-49563669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12216439 | chr6:49563672-49563673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs12202763 | chr6:49563678-49563679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs571202166 | chr6:49563709-49563710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs373452153 | chr6:49563793-49563794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs182929110 | chr6:49563794-49563795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs556688465 | chr6:49563809-49563810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs556192414 | chr6:49563818-49563819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs12177501 | chr6:49563832-49563833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs188368413 | chr6:49563849-49563850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs189826569 | chr6:49563864-49563865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs182432170 | chr6:49563870-49563871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs186817961 | chr6:49563887-49563888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs192356815 | chr6:49563916-49563917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs200695887 | chr6:49563923-49563924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs112420277 | chr6:49563931-49563932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs201572706 | chr6:49563947-49563948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs572822858 | chr6:49563952-49563953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs539832237 | chr6:49563965-49563966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs562416838 | chr6:49564005-49564006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs560130061 | chr6:49564022-49564023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs199853790 | chr6:49564025-49564026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs201291391 | chr6:49564030-49564031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs375843802 | chr6:49564032-49564033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs574466428 | chr6:49564041-49564042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs554251122 | chr6:49564047-49564048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Glioblastoma multiforme | 21080181 | 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 |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Osteosarcoma | 21197465 | CNVD |
Gastric cancer | 24379144 | CNVD |
Neuroblastoma | 18923191 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21364760 | CNVD |
Follicular lymphoma | 16790693 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Neurocytoma | 17123091 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Heart disease | 21282601 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Breast cancer | 16608533 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Neuroblastoma | 19686582 | CNVD |
Neuroblastoma | 17289879 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Bladder cancer | 21909424 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:49563600-49572600 | Weak transcription | K562 | blood |