Variant report

Variant	esv11557
Chromosome Location	chr6:165269422-165273754
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	chr6:165271396..165272279-chr6:165462865..165463466,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73262015	chr6:165269434-165269435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549210531	chr6:165269483-165269484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561180869	chr6:165269494-165269495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1511069	chr6:165269495-165269496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540396393	chr6:165269502-165269503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79023738	chr6:165269504-165269505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1511070	chr6:165269511-165269512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552188399	chr6:165269519-165269520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180770424	chr6:165269520-165269521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531284721	chr6:165269526-165269527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1511071	chr6:165269578-165269579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79965846	chr6:165269606-165269607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186087629	chr6:165269617-165269618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139294125	chr6:165269654-165269655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566652267	chr6:165269706-165269707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1511072	chr6:165269709-165269710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558947679	chr6:165269719-165269720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190865563	chr6:165269724-165269725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538190439	chr6:165269738-165269739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554584389	chr6:165269742-165269743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574758116	chr6:165269804-165269805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540464075	chr6:165269821-165269822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560376381	chr6:165269864-165269865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577052958	chr6:165269895-165269896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557491081	chr6:165269940-165269941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545577839	chr6:165269950-165269951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73032904	chr6:165269991-165269992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559225973	chr6:165273002-165273003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563621093	chr6:165273018-165273019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185911967	chr6:165273047-165273048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6902206	chr6:165273078-165273079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548806806	chr6:165273105-165273106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565535560	chr6:165273108-165273109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188457261	chr6:165273115-165273116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149572682	chr6:165273164-165273165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571222844	chr6:165273194-165273195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561109743	chr6:165273207-165273208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398110919	chr6:165273217-165273218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537074228	chr6:165273236-165273237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377318960	chr6:165273243-165273244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556663436	chr6:165273322-165273323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368600582	chr6:165273346-165273347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570396374	chr6:165273367-165273368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536143907	chr6:165273380-165273381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28474954	chr6:165273390-165273391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4506023	chr6:165273433-165273434	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572678486	chr6:165273434-165273435	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs150047797	chr6:165273439-165273440	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541225938	chr6:165273489-165273490	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558247438	chr6:165273490-165273491	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165269200-165270000	Enhancers	Ovary	ovary
2	chr6:165273000-165273800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:165273200-165273800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:165273200-165273800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:165273400-165273800	Active TSS	Brain Angular Gyrus	brain
6	chr6:165273400-165273800	Active TSS	Brain Anterior Caudate	brain
7	chr6:165273400-165273800	Active TSS	Brain Hippocampus Middle	brain
8	chr6:165273400-165273800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:165273400-165273800	Active TSS	Brain Substantia Nigra	brain
10	chr6:165273400-165273800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:165273400-165273800	Enhancers	Left Ventricle	heart
12	chr6:165273400-165274000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:165273400-165274200	Enhancers	Fetal Heart	heart

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