Variant report

Variant	esv3410145
Chromosome Location	chr6:165395590-165416763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs568238259	chr6:165404219-165404220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529089729	chr6:165404223-165404224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146300928	chr6:165404252-165404253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575274079	chr6:165404272-165404273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569194205	chr6:165404290-165404291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35187665	chr6:165404298-165404299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539806604	chr6:165404331-165404332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189845877	chr6:165404339-165404340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144480389	chr6:165404372-165404373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566899878	chr6:165404378-165404379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534297239	chr6:165404399-165404400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148508976	chr6:165404406-165404407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553129374	chr6:165404416-165404417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9347058	chr6:165404455-165404456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556782962	chr6:165404483-165404484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577902001	chr6:165404554-165404555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142198223	chr6:165404577-165404578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557899510	chr6:165404600-165404601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572548142	chr6:165404634-165404635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180718113	chr6:165404653-165404654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117836495	chr6:165404736-165404737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561633134	chr6:165404841-165404842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60762728	chr6:165404863-165404864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550514788	chr6:165404881-165404882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28539262	chr6:165404917-165404918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533238287	chr6:165404920-165404921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551747018	chr6:165404921-165404922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151226457	chr6:165404973-165404974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184642696	chr6:165404974-165404975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575944519	chr6:165404979-165404980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9347973	chr6:165404997-165404998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567671046	chr6:165404999-165405000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140269681	chr6:165405028-165405029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556317811	chr6:165405032-165405033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577866711	chr6:165405035-165405036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73020964	chr6:165405049-165405050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574003988	chr6:165405050-165405051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9347974	chr6:165405056-165405057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145215192	chr6:165405057-165405058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377194815	chr6:165405094-165405095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74496096	chr6:165405101-165405102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9365845	chr6:165405102-165405103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544320053	chr6:165405116-165405117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9356330	chr6:165405131-165405132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374236894	chr6:165405135-165405136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147624744	chr6:165405136-165405137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9347975	chr6:165405152-165405153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77611278	chr6:165405210-165405211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567680144	chr6:165405296-165405297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9356331	chr6:165405313-165405314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165404200-165406200	Enhancers	Placenta	Placenta
2	chr6:165405000-165406200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:165408200-165408400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:165408400-165410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:165410200-165410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:165410400-165411000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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