Variant report

Variant	esv3504202
Chromosome Location	chr6:74049631-74052829
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	chr6:74042687..74044679-chr6:74047911..74049640,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574919680	chr6:74049644-74049645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540940771	chr6:74049660-74049661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117787638	chr6:74049689-74049690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76596614	chr6:74049719-74049720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572773279	chr6:74049743-74049744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550147540	chr6:74049760-74049761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540145882	chr6:74049763-74049764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528552323	chr6:74049768-74049769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532202593	chr6:74049775-74049776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544433873	chr6:74049776-74049777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568482257	chr6:74049839-74049840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562426439	chr6:74049859-74049860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529788	chr6:74049874-74049875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548177360	chr6:74049926-74049927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186026353	chr6:74049944-74049945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527952646	chr6:74049973-74049974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7453584	chr6:74049974-74049975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190441191	chr6:74050113-74050114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182637625	chr6:74050164-74050165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538048045	chr6:74050237-74050238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187085992	chr6:74050277-74050278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568440989	chr6:74050330-74050331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371473778	chr6:74050358-74050359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375136775	chr6:74050359-74050360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112394417	chr6:74050366-74050367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113342268	chr6:74050370-74050371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112394808	chr6:74050399-74050400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112583463	chr6:74050405-74050406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577101344	chr6:74050410-74050411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544052950	chr6:74050417-74050418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562722832	chr6:74050420-74050421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574548279	chr6:74050441-74050442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191283851	chr6:74050463-74050464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs503322	chr6:74050476-74050477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560145569	chr6:74050498-74050499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369036275	chr6:74050521-74050522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552192713	chr6:74050524-74050525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182609142	chr6:74050527-74050528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375906922	chr6:74050548-74050549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11447668	chr6:74050565-74050566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202133357	chr6:74050566-74050567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187691277	chr6:74050592-74050593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146205308	chr6:74050621-74050622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79962948	chr6:74050704-74050705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535508778	chr6:74050705-74050706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371934147	chr6:74050774-74050775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558516464	chr6:74050793-74050794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112921453	chr6:74050823-74050824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547482631	chr6:74050829-74050830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551758085	chr6:74050856-74050857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
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
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74049000-74050000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:74049000-74050000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr6:74049000-74050000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:74049200-74049800	Enhancers	GM12878-XiMat	blood
5	chr6:74049200-74050000	Enhancers	A549	lung
6	chr6:74049400-74049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:74050000-74053600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:74052600-74053200	Enhancers	Fetal Lung	lung

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