Variant report

Variant	nsv523380
Chromosome Location	chr6:91914865-91942743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:91909528..91912295-chr6:91912373..91915298,3	K562	blood:
2	chr6:91938876..91941308-chr6:91942108..91944508,2	K562	blood:
3	chr6:91938876..91941308-chr6:91942108..91944508,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534563905	chr6:91927829-91927830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146593414	chr6:91927840-91927841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75369842	chr6:91927866-91927867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576640609	chr6:91927915-91927916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6920437	chr6:91927929-91927930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559777598	chr6:91927930-91927931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74658645	chr6:91927987-91927988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547600728	chr6:91927997-91927998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542200862	chr6:91928094-91928095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562111768	chr6:91928199-91928200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185738276	chr6:91928254-91928255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9451601	chr6:91928316-91928317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564636684	chr6:91928318-91928319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570657018	chr6:91928331-91928332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553738356	chr6:91928369-91928370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533546886	chr6:91928455-91928456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554748703	chr6:91928497-91928498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557771181	chr6:91928502-91928503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565757779	chr6:91928505-91928506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141477727	chr6:91928587-91928588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115220200	chr6:91928612-91928613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371993944	chr6:91928646-91928647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559633222	chr6:91928661-91928662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567724801	chr6:91928696-91928697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370684136	chr6:91928721-91928722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151216762	chr6:91928724-91928725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550089132	chr6:91928739-91928740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189040204	chr6:91928843-91928844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569511284	chr6:91928892-91928893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143892304	chr6:91928897-91928898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552935723	chr6:91928900-91928901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573287199	chr6:91928909-91928910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10646940	chr6:91928947-91928948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56994548	chr6:91928948-91928949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555017623	chr6:91928959-91928960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58068856	chr6:91928987-91928988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559755279	chr6:91929008-91929009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541962767	chr6:91929016-91929017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181181064	chr6:91929116-91929117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368142685	chr6:91929148-91929149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185621610	chr6:91929149-91929150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9342267	chr6:91929187-91929188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544894406	chr6:91929245-91929246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140073821	chr6:91929248-91929249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533495127	chr6:91929249-91929250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547168559	chr6:91929286-91929287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560523004	chr6:91929304-91929305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528145164	chr6:91929326-91929327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547893789	chr6:91929327-91929328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534438995	chr6:91929330-91929331	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Lung adenocarcinoma	21935476	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	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91927800-91932400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:91930200-91931400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:91930600-91930800	Enhancers	Fetal Heart	heart
4	chr6:91930800-91931400	Flanking Active TSS	Fetal Heart	heart
5	chr6:91931000-91931400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:91931000-91931400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:91931400-91931600	Enhancers	Fetal Heart	heart

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