Variant report

Variant	esv3449148
Chromosome Location	chr6:70719842-70726710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9346368	chr6:70719876-70719877	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550773444	chr6:70719898-70719899	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562241411	chr6:70720009-70720010	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531346575	chr6:70720030-70720031	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs118102217	chr6:70720154-70720155	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571252267	chr6:70720239-70720240	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533434149	chr6:70720260-70720261	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148272537	chr6:70720261-70720262	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567021747	chr6:70720266-70720267	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536049701	chr6:70720294-70720295	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530156063	chr6:70720299-70720300	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556034985	chr6:70720302-70720303	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569356551	chr6:70720303-70720304	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs185032151	chr6:70720311-70720312	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538362719	chr6:70720312-70720313	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369189795	chr6:70720330-70720331	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577982019	chr6:70720342-70720343	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147013171	chr6:70720344-70720345	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113592982	chr6:70720369-70720370	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189067434	chr6:70720373-70720374	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566845250	chr6:70720385-70720386	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533982103	chr6:70720394-70720395	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531287067	chr6:70720399-70720400	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545113055	chr6:70720404-70720405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113382749	chr6:70720410-70720411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527293989	chr6:70720471-70720472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547460045	chr6:70720495-70720496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560755832	chr6:70720508-70720509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529646052	chr6:70720509-70720510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375408169	chr6:70720557-70720558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369930864	chr6:70720572-70720573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569494048	chr6:70720595-70720596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113323771	chr6:70720603-70720604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551862948	chr6:70720638-70720639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373596310	chr6:70720722-70720723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376670048	chr6:70720731-70720732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113983821	chr6:70720884-70720885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547407273	chr6:70720979-70720980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532145229	chr6:70720980-70720981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199499612	chr6:70721613-70721614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200675603	chr6:70723040-70723041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149448251	chr6:70723482-70723483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569998057	chr6:70724648-70724649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571503471	chr6:70725212-70725213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150893098	chr6:70725626-70725627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574558665	chr6:70725635-70725636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371202806	chr6:70725701-70725702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201515952	chr6:70725823-70725824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372782332	chr6:70725872-70725873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183126036	chr6:70725920-70725921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70716200-70734000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:70719600-70720400	Active TSS	K562	blood

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