Variant report

Variant	esv3352849
Chromosome Location	chr6:65658931-65662129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150573592	chr6:65659007-65659008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542052800	chr6:65659050-65659051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183567931	chr6:65659058-65659059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562333872	chr6:65659071-65659072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531213994	chr6:65659093-65659094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551260937	chr6:65659121-65659122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571182417	chr6:65659143-65659144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532097619	chr6:65659196-65659197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186765257	chr6:65659238-65659239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11758096	chr6:65659244-65659245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9294632	chr6:65659275-65659276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191572146	chr6:65659318-65659319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554447176	chr6:65659368-65659369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114585421	chr6:65659378-65659379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576959236	chr6:65659381-65659382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72873092	chr6:65659435-65659436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376618986	chr6:65659468-65659469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556641737	chr6:65659470-65659471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556811358	chr6:65659472-65659473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112270154	chr6:65659498-65659499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545780644	chr6:65659500-65659501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182872246	chr6:65659582-65659583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573233441	chr6:65659592-65659593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542341362	chr6:65659617-65659618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562055981	chr6:65659627-65659628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9453120	chr6:65659677-65659678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553136979	chr6:65659709-65659710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188338868	chr6:65659747-65659748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564729871	chr6:65659786-65659787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9453121	chr6:65659806-65659807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551883067	chr6:65659871-65659872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559329352	chr6:65659872-65659873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528160762	chr6:65659873-65659874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386702092	chr6:65659898-65659899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9445445	chr6:65659899-65659900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536807249	chr6:65659900-65659901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550398932	chr6:65659905-65659906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116584536	chr6:65659933-65659934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539374644	chr6:65659971-65659972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114153140	chr6:65659975-65659976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147348917	chr6:65660011-65660012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535502006	chr6:65660027-65660028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139421320	chr6:65660046-65660047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28484766	chr6:65660110-65660111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147945259	chr6:65660121-65660122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564717668	chr6:65660132-65660133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73767195	chr6:65660146-65660147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540961681	chr6:65660163-65660164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560629431	chr6:65660184-65660185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528039723	chr6:65660206-65660207	Weak transcription	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65658800-65659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:65659000-65659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:65659000-65659600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:65659000-65659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:65659400-65661000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65661000-65661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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