Variant report

Variant	nsv981316
Chromosome Location	chr6:128985217-128987915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377214400	chr6:128985229-128985230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562896716	chr6:128985271-128985272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562871855	chr6:128985280-128985281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548591284	chr6:128985291-128985292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376524938	chr6:128985303-128985304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531130537	chr6:128985311-128985312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542876461	chr6:128985331-128985332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561178030	chr6:128985356-128985357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192938602	chr6:128985415-128985416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568511555	chr6:128985417-128985418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148300546	chr6:128985461-128985462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116648311	chr6:128985471-128985472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565245379	chr6:128985484-128985485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547943927	chr6:128985555-128985556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377289493	chr6:128985556-128985557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532592327	chr6:128985618-128985619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142996293	chr6:128985624-128985625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569241972	chr6:128985648-128985649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537381165	chr6:128985667-128985668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147229805	chr6:128985686-128985687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374564454	chr6:128985688-128985689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140594374	chr6:128985814-128985815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs482607	chr6:128985860-128985861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553090021	chr6:128985863-128985864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111493550	chr6:128985915-128985916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142821948	chr6:128985921-128985922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577070630	chr6:128985923-128985924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556552329	chr6:128985927-128985928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574878416	chr6:128985943-128985944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534894300	chr6:128985952-128985953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183347133	chr6:128985953-128985954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188807344	chr6:128985955-128985956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558477243	chr6:128985975-128985976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540209804	chr6:128985993-128985994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569093004	chr6:128986001-128986002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573422416	chr6:128986091-128986092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540474142	chr6:128986108-128986109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78633836	chr6:128986118-128986119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537790196	chr6:128986119-128986120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375609332	chr6:128986171-128986172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551078871	chr6:128986183-128986184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562901978	chr6:128986204-128986205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530116489	chr6:128986226-128986227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193086312	chr6:128986237-128986238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150777037	chr6:128986268-128986269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567456331	chr6:128986301-128986302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534869651	chr6:128986330-128986331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546497497	chr6:128986341-128986342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574465623	chr6:128986368-128986369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571382911	chr6:128986409-128986410	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128981600-128985400	Weak transcription	Fetal Heart	heart
2	chr6:128985400-128988800	Enhancers	Fetal Heart	heart

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