Variant report

Variant	nsv463943
Chromosome Location	chr6:86944599-86976150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7765374	chr6:86944599-86944600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371569716	chr6:86944605-86944606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538904153	chr6:86944614-86944615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139458913	chr6:86944653-86944654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568364729	chr6:86944685-86944686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559015257	chr6:86944710-86944711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535535134	chr6:86944717-86944718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550673473	chr6:86944734-86944735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186952696	chr6:86944735-86944736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539451752	chr6:86944749-86944750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558773771	chr6:86944765-86944766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577052031	chr6:86944803-86944804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534962477	chr6:86944804-86944805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553181598	chr6:86944835-86944836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143938623	chr6:86944879-86944880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541913334	chr6:86944884-86944885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563394732	chr6:86944896-86944897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376003886	chr6:86944934-86944935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146872722	chr6:86944951-86944952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545491989	chr6:86944957-86944958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569242404	chr6:86944977-86944978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80082778	chr6:86944978-86944979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538354685	chr6:86944982-86944983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561933645	chr6:86944989-86944990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555056815	chr6:86945020-86945021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144413555	chr6:86945074-86945075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550612001	chr6:86945083-86945084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569016899	chr6:86945107-86945108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533506833	chr6:86945155-86945156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191745588	chr6:86945162-86945163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566884680	chr6:86945191-86945192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544082109	chr6:86945192-86945193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201306913	chr6:86945211-86945212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34090583	chr6:86945271-86945272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116537735	chr6:86945314-86945315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183707422	chr6:86945324-86945325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114734033	chr6:86945349-86945350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377213322	chr6:86945448-86945449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149165226	chr6:86945453-86945454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531907584	chr6:86945500-86945501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575240552	chr6:86945560-86945561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545932907	chr6:86945686-86945687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557449771	chr6:86945694-86945695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4299797	chr6:86945708-86945709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs540539449	chr6:86945713-86945714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562045752	chr6:86945721-86945722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529404559	chr6:86945729-86945730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544390720	chr6:86945735-86945736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562788243	chr6:86945741-86945742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533246182	chr6:86945793-86945794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86940200-86946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:86944800-86945000	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr6:86945600-86945800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr6:86946800-86947000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:86964400-86964600	Enhancers	Fetal Intestine Large	intestine
6	chr6:86964400-86964600	Enhancers	Ovary	ovary
7	chr6:86964600-86965200	Weak transcription	Ovary	ovary
8	chr6:86964800-86965600	Weak transcription	Fetal Intestine Large	intestine
9	chr6:86965200-86966400	Enhancers	Ovary	ovary
10	chr6:86965200-86966600	Enhancers	HepG2	liver
11	chr6:86965400-86966000	Enhancers	Pancreas	Pancrea
12	chr6:86965400-86966600	Enhancers	Liver	Liver
13	chr6:86965600-86966600	Enhancers	Fetal Intestine Large	intestine
14	chr6:86975000-86975600	Enhancers	Fetal Lung	lung

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