Variant report

Variant	esv17912
Chromosome Location	chr6:70014088-70018507
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	chr6:70008651..70011416-chr6:70016627..70019058,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574888554	chr6:70014094-70014095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543905031	chr6:70014108-70014109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373541108	chr6:70014116-70014117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564166629	chr6:70014155-70014156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558872896	chr6:70014170-70014171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139710991	chr6:70014171-70014172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552709624	chr6:70014185-70014186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560003587	chr6:70014216-70014217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187607674	chr6:70014237-70014238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190339695	chr6:70014240-70014241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548878968	chr6:70014265-70014266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536507540	chr6:70014274-70014275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34243266	chr6:70014277-70014278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34758913	chr6:70014279-70014280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568817772	chr6:70014284-70014285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201270513	chr6:70014304-70014305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149793472	chr6:70014362-70014363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113659043	chr6:70014372-70014373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181015169	chr6:70014390-70014391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571168943	chr6:70014409-70014410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538159367	chr6:70014529-70014530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146325468	chr6:70014595-70014596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185086280	chr6:70014605-70014606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1321981	chr6:70014608-70014609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538363423	chr6:70014670-70014671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535310257	chr6:70014762-70014763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555231016	chr6:70014775-70014776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558266872	chr6:70014777-70014778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575456378	chr6:70014813-70014814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73471325	chr6:70014846-70014847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563946443	chr6:70014894-70014895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577631496	chr6:70014900-70014901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189555252	chr6:70014913-70014914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182579829	chr6:70015003-70015004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529294043	chr6:70015032-70015033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186243057	chr6:70015035-70015036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528693876	chr6:70015046-70015047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548840252	chr6:70015047-70015048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562331329	chr6:70015095-70015096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139634073	chr6:70015106-70015107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550926002	chr6:70015190-70015191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116622666	chr6:70015200-70015201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367851054	chr6:70015247-70015248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146607585	chr6:70015249-70015250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191993511	chr6:70015250-70015251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73745995	chr6:70015255-70015256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183368624	chr6:70015277-70015278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542215927	chr6:70015283-70015284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12214328	chr6:70015294-70015295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572556325	chr6:70015311-70015312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69994400-70015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:70003600-70014600	Weak transcription	Brain Angular Gyrus	brain

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