Variant report

Variant	esv3447938
Chromosome Location	chr6:71859381-71861679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114845323	chr6:71859385-71859386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6902964	chr6:71859432-71859433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35314532	chr6:71859440-71859441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557060147	chr6:71859474-71859475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111348709	chr6:71859535-71859536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571437795	chr6:71859570-71859571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554473979	chr6:71859583-71859584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35820387	chr6:71859586-71859587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191046952	chr6:71859611-71859612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540158165	chr6:71859615-71859616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536294911	chr6:71859627-71859628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369812607	chr6:71859638-71859639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34452013	chr6:71859680-71859681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576859662	chr6:71859714-71859715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10806642	chr6:71859736-71859737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554698447	chr6:71859750-71859751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562954896	chr6:71859775-71859776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9342811	chr6:71859783-71859784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9351802	chr6:71859811-71859812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560548887	chr6:71859812-71859813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12202150	chr6:71859846-71859847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577434801	chr6:71859877-71859878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571255955	chr6:71859921-71859922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534040236	chr6:71859922-71859923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182534141	chr6:71859954-71859955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10945289	chr6:71860000-71860001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116325333	chr6:71860002-71860003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113393853	chr6:71860005-71860006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142713414	chr6:71860006-71860007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386702532	chr6:71860036-71860037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6940058	chr6:71860046-71860047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184912879	chr6:71860066-71860067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562823171	chr6:71860110-71860111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560193317	chr6:71860195-71860196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544556106	chr6:71860217-71860218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564388248	chr6:71860286-71860287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574848396	chr6:71860292-71860293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9364132	chr6:71860318-71860319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560724637	chr6:71860332-71860333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527931543	chr6:71860354-71860355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7756363	chr6:71860381-71860382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564721784	chr6:71860411-71860412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532050680	chr6:71860419-71860420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550513563	chr6:71860423-71860424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9342813	chr6:71860428-71860429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566275106	chr6:71860444-71860445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377634253	chr6:71860447-71860448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565339420	chr6:71860528-71860529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529774134	chr6:71860541-71860542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571541529	chr6:71860543-71860544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71856400-71863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:71861600-71862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:71861600-71862000	Enhancers	Brain Anterior Caudate	brain

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