Variant report

Variant	esv3410764
Chromosome Location	chr6:68833331-68837229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:68591392..68593317-chr6:68835997..68837691,2	K562	blood:
2	chr6:68833895..68835853-chr6:68842387..68844997,2	K562	blood:
3	chr6:68828507..68832078-chr6:68836054..68840221,3	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77282879	chr6:68833449-68833450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181233430	chr6:68833466-68833467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553004084	chr6:68833473-68833474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4706466	chr6:68833496-68833497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541655848	chr6:68833497-68833498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561534978	chr6:68833536-68833537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575192139	chr6:68833540-68833541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73746451	chr6:68833604-68833605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185335612	chr6:68833609-68833610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532500347	chr6:68833673-68833674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191689438	chr6:68833680-68833681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559834394	chr6:68833688-68833689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11970062	chr6:68833727-68833728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548850057	chr6:68833729-68833730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568623868	chr6:68833733-68833734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537752205	chr6:68833791-68833792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557294600	chr6:68833861-68833862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71536437	chr6:68833909-68833910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398048625	chr6:68833914-68833915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147489740	chr6:68833937-68833938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4707864	chr6:68833955-68833956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539446815	chr6:68833959-68833960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552678204	chr6:68833996-68833997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140050823	chr6:68834030-68834031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369727478	chr6:68834102-68834103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566270179	chr6:68834121-68834122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532037846	chr6:68834149-68834150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183791050	chr6:68834216-68834217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112230875	chr6:68834247-68834248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555143407	chr6:68834278-68834279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575052158	chr6:68834298-68834299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186694142	chr6:68834300-68834301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558063487	chr6:68834306-68834307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577847784	chr6:68834319-68834320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546220335	chr6:68834337-68834338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192480630	chr6:68834358-68834359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528600806	chr6:68834359-68834360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183209688	chr6:68834379-68834380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6455266	chr6:68834406-68834407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142923945	chr6:68834440-68834441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550873054	chr6:68834541-68834542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571156720	chr6:68834545-68834546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73451456	chr6:68834547-68834548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573196551	chr6:68834551-68834552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566082246	chr6:68834594-68834595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535182152	chr6:68834627-68834628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555009152	chr6:68834628-68834629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529608966	chr6:68834666-68834667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538081256	chr6:68834730-68834731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557660043	chr6:68834751-68834752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Prostate cancer	16573809	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
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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68833400-68843600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:68836600-68837400	Enhancers	GM12878-XiMat	blood
3	chr6:68837000-68837800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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