Variant report

Variant	nsv527345
Chromosome Location	chr6:82794111-82797619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:82796956..82799385-chr6:82802656..82805206,2	MCF-7	breast:
2	chr6:82796494..82798103-chr6:82801117..82802958,2	K562	blood:
3	chr6:82797370..82801181-chr6:82806554..82809565,3	MCF-7	breast:

Extended variants
information (count: 136 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1984257	chr6:82794111-82794112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563373415	chr6:82794114-82794115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386703223	chr6:82794118-82794119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73749218	chr6:82794120-82794121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139892981	chr6:82794122-82794123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143798084	chr6:82794143-82794144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147280869	chr6:82794152-82794153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571006937	chr6:82794154-82794155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192872153	chr6:82794159-82794160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559567740	chr6:82794193-82794194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550333195	chr6:82794198-82794199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570169293	chr6:82794199-82794200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2039669	chr6:82794239-82794240	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556096127	chr6:82794278-82794279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549610170	chr6:82794323-82794324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72896756	chr6:82794345-82794346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563191162	chr6:82794350-82794351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535004331	chr6:82794371-82794372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115102012	chr6:82794389-82794390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77854008	chr6:82794404-82794405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9449394	chr6:82794450-82794451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569491079	chr6:82794485-82794486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563472057	chr6:82794498-82794499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139751079	chr6:82794521-82794522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189328488	chr6:82794533-82794534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542473374	chr6:82794544-82794545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1538138	chr6:82794594-82794595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
28	rs572738617	chr6:82794616-82794617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528416616	chr6:82794648-82794649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535236357	chr6:82794679-82794680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544581839	chr6:82794680-82794681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373864984	chr6:82794730-82794731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538368644	chr6:82794760-82794761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377165547	chr6:82794776-82794777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181958036	chr6:82794840-82794841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550424770	chr6:82794853-82794854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113230763	chr6:82794889-82794890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149944056	chr6:82794894-82794895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549637603	chr6:82794900-82794901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566370985	chr6:82794907-82794908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535377188	chr6:82794952-82794953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs945853	chr6:82794976-82794977	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116451043	chr6:82795025-82795026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537508592	chr6:82795100-82795101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144996556	chr6:82795141-82795142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376985889	chr6:82795302-82795303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574119281	chr6:82795303-82795304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60414464	chr6:82795310-82795311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148654468	chr6:82795314-82795315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572785309	chr6:82795356-82795357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82783400-82797800	Weak transcription	Left Ventricle	heart
2	chr6:82792200-82799600	Enhancers	HepG2	liver
3	chr6:82792800-82794400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:82792800-82795200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:82793200-82794400	Enhancers	Osteobl	bone
6	chr6:82793800-82794200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:82793800-82794600	Enhancers	Brain Hippocampus Middle	brain
8	chr6:82793800-82795000	Enhancers	Brain Substantia Nigra	brain
9	chr6:82794000-82794400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:82794000-82794600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:82794000-82794800	Enhancers	Brain Anterior Caudate	brain
12	chr6:82794400-82794600	Enhancers	Brain Angular Gyrus	brain
13	chr6:82794400-82794800	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:82794600-82794800	Enhancers	A549	lung
15	chr6:82794800-82796400	Weak transcription	A549	lung
16	chr6:82794800-82798800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:82795000-82799200	Weak transcription	Brain Substantia Nigra	brain
18	chr6:82795200-82798800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:82796200-82798200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:82796400-82796800	Flanking Active TSS	A549	lung
21	chr6:82796800-82797000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:82796800-82797600	Enhancers	A549	lung
23	chr6:82797000-82799000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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