Variant report

Variant	esv3473370
Chromosome Location	chr6:132114229-132118551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143679306	chr6:132114266-132114267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113347028	chr6:132114272-132114273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148089018	chr6:132114284-132114285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141867218	chr6:132114317-132114318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150646622	chr6:132114322-132114323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113402887	chr6:132114341-132114342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181407917	chr6:132114342-132114343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554851596	chr6:132114363-132114364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573399357	chr6:132114386-132114387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111757777	chr6:132114454-132114455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559032171	chr6:132114499-132114500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577267487	chr6:132114521-132114522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12055633	chr6:132114553-132114554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531559125	chr6:132114601-132114602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544181517	chr6:132114627-132114628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59532822	chr6:132114638-132114639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111557009	chr6:132114646-132114647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112366007	chr6:132114647-132114648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562772937	chr6:132114671-132114672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6931816	chr6:132114703-132114704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542041653	chr6:132114759-132114760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113737656	chr6:132114847-132114848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34085788	chr6:132114889-132114890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562947709	chr6:132114918-132114919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75668960	chr6:132114935-132114936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75167737	chr6:132114944-132114945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376567246	chr6:132114950-132114951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142177356	chr6:132114970-132114971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547013287	chr6:132114973-132114974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57609295	chr6:132115025-132115026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570117611	chr6:132115038-132115039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28464156	chr6:132115058-132115059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9493100	chr6:132115081-132115082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569570440	chr6:132115090-132115091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536525992	chr6:132115093-132115094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113437082	chr6:132115102-132115103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555189045	chr6:132115110-132115111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560803466	chr6:132115154-132115155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531473572	chr6:132115196-132115197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185253740	chr6:132115254-132115255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111709450	chr6:132115283-132115284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559044640	chr6:132115287-132115288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72983635	chr6:132115300-132115301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544560295	chr6:132115376-132115377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556268371	chr6:132115410-132115411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190864545	chr6:132115411-132115412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541750192	chr6:132115434-132115435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559926977	chr6:132115440-132115441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527439638	chr6:132115448-132115449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113147590	chr6:132115454-132115455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132113600-132114400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:132114200-132116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:132114200-132116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:132114200-132116400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:132114400-132114600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:132116400-132116600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:132116400-132117000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:132116400-132117000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:132116400-132117200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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