Variant report

Variant	esv3370872
Chromosome Location	chr6:69526831-69527879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69517737..69519410-chr6:69526030..69528424,2	K562	blood:
2	chr6:69525260..69527994-chr6:69529936..69531969,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187756145	chr6:69526852-69526853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1018436	chr6:69526861-69526862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555563326	chr6:69526869-69526870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191563510	chr6:69526888-69526889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs646118	chr6:69526907-69526908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557409371	chr6:69526923-69526924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184233482	chr6:69526970-69526971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545762458	chr6:69527035-69527036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs657393	chr6:69527084-69527085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569557384	chr6:69527122-69527123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190037341	chr6:69527128-69527129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116891643	chr6:69527196-69527197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs70987435	chr6:69527199-69527200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60723627	chr6:69527216-69527217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11755645	chr6:69527226-69527227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192673450	chr6:69527237-69527238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184717234	chr6:69527240-69527241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573582367	chr6:69527250-69527251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369117869	chr6:69527322-69527323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373919542	chr6:69527330-69527331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562191865	chr6:69527354-69527355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188949337	chr6:69527432-69527433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115621639	chr6:69527435-69527436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140543595	chr6:69527525-69527526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566284010	chr6:69527536-69527537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532980737	chr6:69527548-69527549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150464158	chr6:69527578-69527579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73745884	chr6:69527608-69527609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs490653	chr6:69527664-69527665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555623905	chr6:69527670-69527671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118118280	chr6:69527691-69527692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538021472	chr6:69527723-69527724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557194482	chr6:69527732-69527733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138321794	chr6:69527760-69527761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551837224	chr6:69527774-69527775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552902347	chr6:69527812-69527813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372048635	chr6:69527829-69527830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149642157	chr6:69527853-69527854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs492444	chr6:69527865-69527866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69505600-69536000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:69523000-69527400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:69523400-69535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:69525400-69528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:69525400-69534600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:69525800-69532000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:69527400-69528400	Enhancers	Brain Angular Gyrus	brain
8	chr6:69527400-69528800	Enhancers	Brain Substantia Nigra	brain

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