Variant report

Variant	nsv538273
Chromosome Location	chr6:64870667-64900058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:64898967..64901155-chr6:64903465..64905780,2	K562	blood:
2	chr6:64825086..64826621-chr6:64878332..64879949,2	K562	blood:
3	chr20:46132660..46133356-chr6:64886601..64887388,2	MCF-7	breast:
4	chr12:81340169..81340734-chr6:64895212..64895734,2	MCF-7	breast:

Extended variants
information (count: 385 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117112928	chr6:64870731-64870732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532007883	chr6:64870828-64870829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191588168	chr6:64870887-64870888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370237282	chr6:64870921-64870922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374949650	chr6:64870955-64870956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571925596	chr6:64870966-64870967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532570892	chr6:64870995-64870996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183492048	chr6:64871028-64871029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185631440	chr6:64871050-64871051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74866409	chr6:64871063-64871064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554999643	chr6:64871099-64871100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569980028	chr6:64871128-64871129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190091523	chr6:64871135-64871136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528246253	chr6:64871137-64871138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138989719	chr6:64871164-64871165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182294051	chr6:64871217-64871218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577717219	chr6:64871275-64871276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540827521	chr6:64871289-64871290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74610636	chr6:64871298-64871299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574188751	chr6:64871314-64871315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541551924	chr6:64871345-64871346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74450536	chr6:64871396-64871397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565668947	chr6:64871410-64871411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149880124	chr6:64871416-64871417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547064932	chr6:64871490-64871491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186607210	chr6:64871507-64871508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115155285	chr6:64871531-64871532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565396182	chr6:64871542-64871543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532853207	chr6:64871551-64871552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11967277	chr6:64871566-64871567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530845099	chr6:64871594-64871595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577611358	chr6:64879604-64879605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77836732	chr6:64879607-64879608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553404237	chr6:64879623-64879624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74940307	chr6:64879631-64879632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75829614	chr6:64879642-64879643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549100592	chr6:64879656-64879657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200806713	chr6:64879676-64879677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143506115	chr6:64879683-64879684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530948679	chr6:64879724-64879725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545788897	chr6:64879788-64879789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373981013	chr6:64879815-64879816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142699770	chr6:64879816-64879817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528115261	chr6:64879828-64879829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528353028	chr6:64879848-64879849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546455941	chr6:64879868-64879869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116064153	chr6:64879877-64879878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529038713	chr6:64879878-64879879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571226474	chr6:64879884-64879885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538408494	chr6:64879919-64879920	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64869600-64871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:64869800-64871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:64879600-64880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:64879800-64880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:64880200-64881000	Enhancers	Fetal Lung	lung
6	chr6:64880600-64885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:64880600-64885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:64885200-64885800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:64885200-64886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:64895800-64896400	Enhancers	Fetal Lung	lung
11	chr6:64896400-64897000	Flanking Active TSS	Fetal Lung	lung
12	chr6:64897000-64897800	Enhancers	Fetal Lung	lung

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