Variant report

Variant	esv3355480
Chromosome Location	chr6:141153609-141154657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140128805..140131673-chr6:141152750..141154839,2	K562	blood:
2	chr6:141147468..141149344-chr6:141153230..141155525,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374260826	chr6:141153658-141153659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12198725	chr6:141153731-141153732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376888361	chr6:141153732-141153733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75037551	chr6:141153747-141153748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559564392	chr6:141153784-141153785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34162081	chr6:141153800-141153801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369813483	chr6:141153810-141153811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529968745	chr6:141153888-141153889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548125452	chr6:141153964-141153965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563149329	chr6:141153967-141153968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117661682	chr6:141153975-141153976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202014002	chr6:141153986-141153987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111545612	chr6:141154021-141154022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28532347	chr6:141154063-141154064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570687494	chr6:141154088-141154089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs656160	chr6:141154108-141154109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs656512	chr6:141154141-141154142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568708227	chr6:141154159-141154160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182318672	chr6:141154175-141154176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76334106	chr6:141154176-141154177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547693321	chr6:141154207-141154208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144085090	chr6:141154208-141154209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79446447	chr6:141154250-141154251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558317750	chr6:141154310-141154311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573391033	chr6:141154359-141154360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541194950	chr6:141154361-141154362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538888153	chr6:141154420-141154421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574636852	chr6:141154436-141154437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541801419	chr6:141154457-141154458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562939497	chr6:141154458-141154459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs599901	chr6:141154481-141154482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556395675	chr6:141154501-141154502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563801205	chr6:141154508-141154509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs599928	chr6:141154509-141154510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547123783	chr6:141154530-141154531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140598018	chr6:141154633-141154634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141147200-141156000	Weak transcription	Pancreas	Pancrea
2	chr6:141152800-141154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:141152800-141154400	Weak transcription	Adipose Nuclei	Adipose
4	chr6:141152800-141154400	Weak transcription	Ovary	ovary
5	chr6:141152800-141171600	Weak transcription	Aorta	Aorta
6	chr6:141153200-141154400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:141154200-141155800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:141154400-141155200	Enhancers	Osteobl	bone
9	chr6:141154400-141155400	Enhancers	Adipose Nuclei	Adipose
10	chr6:141154400-141155400	Enhancers	Ovary	ovary
11	chr6:141154400-141155600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:141154400-141156200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:141154400-141156600	Weak transcription	Left Ventricle	heart

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