Variant report

Variant	nsv516274
Chromosome Location	chr6:66309315-66326945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs546879006	chr6:66311407-66311408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545665985	chr6:66311412-66311413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566857898	chr6:66311442-66311443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559758864	chr6:66311450-66311451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528593243	chr6:66311481-66311482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79803152	chr6:66311519-66311520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568445957	chr6:66311547-66311548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4260740	chr6:66311599-66311600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554311844	chr6:66311608-66311609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs354345	chr6:66311623-66311624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551287902	chr6:66311640-66311641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200950615	chr6:66311642-66311643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201320083	chr6:66311673-66311674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368963571	chr6:66311678-66311679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373327399	chr6:66311687-66311688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371539250	chr6:66311726-66311727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553297536	chr6:66311728-66311729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572070422	chr6:66311740-66311741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534440761	chr6:66311753-66311754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377514131	chr6:66311795-66311796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188687482	chr6:66311826-66311827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543062524	chr6:66311869-66311870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139067940	chr6:66311946-66311947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141518381	chr6:66311956-66311957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539923234	chr6:66311965-66311966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545948310	chr6:66312040-66312041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147014430	chr6:66312053-66312054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528318918	chr6:66312071-66312072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558211259	chr6:66312078-66312079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116564895	chr6:66312080-66312081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562205796	chr6:66312243-66312244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530923661	chr6:66312277-66312278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576329689	chr6:66312289-66312290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376741075	chr6:66312293-66312294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192496964	chr6:66312301-66312302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550994983	chr6:66312344-66312345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370664689	chr6:66312371-66312372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537762098	chr6:66312445-66312446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571114836	chr6:66312455-66312456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539756625	chr6:66312538-66312539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138065390	chr6:66312569-66312570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149511091	chr6:66312588-66312589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144087153	chr6:66312618-66312619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554233150	chr6:66312704-66312705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182534507	chr6:66312727-66312728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536608910	chr6:66312732-66312733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187897930	chr6:66312747-66312748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7741947	chr6:66312761-66312762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545759914	chr6:66312769-66312770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559636819	chr6:66312778-66312779	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66311400-66313400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:66312400-66313200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:66312600-66313000	Enhancers	Fetal Stomach	stomach
4	chr6:66312600-66313200	Enhancers	Fetal Lung	lung
5	chr6:66318800-66321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:66320800-66321200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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