Variant report
Variant | esv2761057 |
---|---|
Chromosome Location | chr6:147324938-147333251 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:16)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:16 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:147330682..147333739-chr6:147335579..147339284,4 | K562 | blood: | |
2 | chr6:147299417..147300923-chr6:147323838..147325399,2 | K562 | blood: | |
3 | chr6:147293968..147295714-chr6:147325806..147327484,2 | K562 | blood: | |
4 | chr6:147220668..147222971-chr6:147322912..147325249,2 | K562 | blood: | |
5 | chr6:147325336..147328216-chr6:147335530..147337626,2 | K562 | blood: | |
6 | chr6:147316757..147318385-chr6:147332392..147334165,2 | K562 | blood: | |
7 | chr6:147331729..147335906-chr6:147523198..147526603,4 | MCF-7 | breast: | |
8 | chr6:147325631..147328847-chr6:147329351..147332016,3 | K562 | blood: | |
9 | chr6:147312774..147316690-chr6:147332385..147335094,3 | K562 | blood: | |
10 | chr6:147325631..147328847-chr6:147329351..147332016,3 | K562 | blood: | |
11 | chr6:147321773..147324598-chr6:147327146..147330616,3 | K562 | blood: | |
12 | chr6:147315835..147318626-chr6:147323386..147326215,2 | K562 | blood: | |
13 | chr6:147332989..147336687-chr6:147339701..147343537,4 | K562 | blood: | |
14 | chr6:147321773..147324598-chr6:147327146..147330616,4 | K562 | blood: | |
15 | chr6:147205157..147208020-chr6:147323168..147325113,2 | K562 | blood: | |
16 | chr6:147320581..147322158-chr6:147325535..147327039,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000233452 | chromatin interactions |
ENSG00000164506 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7765767 | chr6:147324938-147324939 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs189839247 | chr6:147324942-147324943 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs563832585 | chr6:147324953-147324954 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs181386190 | chr6:147324956-147324957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs551163679 | chr6:147325002-147325003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs571349171 | chr6:147325037-147325038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs376094445 | chr6:147325088-147325089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs571573152 | chr6:147325106-147325107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs77641802 | chr6:147325141-147325142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs79345463 | chr6:147325151-147325152 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs539709225 | chr6:147325208-147325209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs566923492 | chr6:147325223-147325224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs536099525 | chr6:147325266-147325267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs186241345 | chr6:147325306-147325307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs77287605 | chr6:147325335-147325336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs566864803 | chr6:147325361-147325362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs74904703 | chr6:147325384-147325385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs572540956 | chr6:147325392-147325393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs541064811 | chr6:147325426-147325427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs201592637 | chr6:147325454-147325455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs117134687 | chr6:147325497-147325498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs532352016 | chr6:147325554-147325555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs6570782 | chr6:147325560-147325561 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs531671003 | chr6:147325583-147325584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532733354 | chr6:147325602-147325603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs548015794 | chr6:147325622-147325623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs542040086 | chr6:147325663-147325664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs78865935 | chr6:147325682-147325683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs77873334 | chr6:147325714-147325715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs547182506 | chr6:147325761-147325762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs566885931 | chr6:147325772-147325773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs180785867 | chr6:147325837-147325838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs549642622 | chr6:147325847-147325848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs569648624 | chr6:147325881-147325882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs145589733 | chr6:147325911-147325912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs555644837 | chr6:147325943-147325944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs538444375 | chr6:147326008-147326009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs73584183 | chr6:147326015-147326016 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs80285159 | chr6:147326029-147326030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs377137099 | chr6:147326058-147326059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs374707780 | chr6:147326166-147326167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs200392987 | chr6:147326173-147326174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs145244088 | chr6:147326190-147326191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs150954818 | chr6:147326197-147326198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs35110759 | chr6:147326244-147326245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs574860937 | chr6:147326269-147326270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs543869357 | chr6:147326279-147326280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs139540346 | chr6:147326312-147326313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs79738776 | chr6:147326362-147326363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs186442497 | chr6:147326374-147326375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Autism | 22495311 | 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 |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Ependymoma | 16718352 | CNVD |
Gastric cancer | 17908304 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
Developmental delay | 19490664 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Leukemia | 18688285 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Prostate cancer | 18632612 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Lung cancer | 18438408 | CNVD |
Endocrine pancreatic tumor | 17914106 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelofibrosis | 22110671 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:147322000-147325000 | Weak transcription | Psoas Muscle | Psoas |
2 | chr6:147322600-147326400 | Weak transcription | Rectal Smooth Muscle | rectum |
3 | chr6:147323200-147325000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |