Variant report

Variant	esv13495
Chromosome Location	chr6:141774668-141781657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 341 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143667024	chr6:141774685-141774686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537253716	chr6:141774686-141774687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558518397	chr6:141774693-141774694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192090212	chr6:141774735-141774736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570519417	chr6:141774740-141774741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534457026	chr6:141774783-141774784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147683251	chr6:141774790-141774791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78194067	chr6:141774804-141774805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574509524	chr6:141774875-141774876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542499341	chr6:141774904-141774905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557689315	chr6:141774928-141774929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117456478	chr6:141774943-141774944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546367118	chr6:141774986-141774987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564558784	chr6:141775020-141775021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528564109	chr6:141775034-141775035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142438673	chr6:141775035-141775036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563131560	chr6:141775049-141775050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561712416	chr6:141775088-141775089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184068645	chr6:141775101-141775102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145947951	chr6:141775102-141775103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188671483	chr6:141775111-141775112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138870797	chr6:141775117-141775118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141335204	chr6:141775118-141775119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570583274	chr6:141775153-141775154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369996432	chr6:141775181-141775182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534688482	chr6:141775199-141775200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553111728	chr6:141775237-141775238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150384568	chr6:141775263-141775264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116982305	chr6:141775288-141775289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138100158	chr6:141775290-141775291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575878096	chr6:141775296-141775297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373462248	chr6:141775312-141775313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113058534	chr6:141775328-141775329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551772139	chr6:141775346-141775347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371102606	chr6:141775356-141775357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377102123	chr6:141775389-141775390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573371660	chr6:141775399-141775400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561850280	chr6:141775427-141775428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529394657	chr6:141775438-141775439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544192755	chr6:141775451-141775452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562578932	chr6:141775464-141775465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530814369	chr6:141775491-141775492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116919104	chr6:141775496-141775497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191103422	chr6:141775511-141775512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528274817	chr6:141775557-141775558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546860465	chr6:141775572-141775573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568149909	chr6:141775575-141775576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535576463	chr6:141775606-141775607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112381807	chr6:141775638-141775639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374245693	chr6:141775648-141775649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141773200-141777200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:141773600-141781200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:141773800-141783000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:141774000-141781200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:141774000-141785800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:141774600-141775000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:141777800-141781200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:141781200-141781400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:141781200-141782800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:141781200-141782800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:141781200-141782800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:141781200-141782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:141781400-141782400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:141781600-141781800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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