Variant report

Variant	nsv981202
Chromosome Location	chr6:160880251-160881549
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	chr6:160876378..160878345-chr6:160878761..160881634,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530976923	chr6:160880285-160880286	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192169269	chr6:160880327-160880328	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569856276	chr6:160880328-160880329	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2504924	chr6:160880329-160880330	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546977995	chr6:160880339-160880340	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567196741	chr6:160880340-160880341	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535323971	chr6:160880387-160880388	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112388555	chr6:160880409-160880410	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535772438	chr6:160880467-160880468	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184606388	chr6:160880487-160880488	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555958096	chr6:160880490-160880491	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534928444	chr6:160880493-160880494	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116162562	chr6:160880494-160880495	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577266261	chr6:160880514-160880515	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543107582	chr6:160880516-160880517	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556674412	chr6:160880525-160880526	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112846964	chr6:160880559-160880560	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4991503	chr6:160880569-160880570	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142861231	chr6:160880572-160880573	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561891151	chr6:160880574-160880575	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371215078	chr6:160880587-160880588	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16891623	chr6:160880677-160880678	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376802910	chr6:160880686-160880687	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573773976	chr6:160880731-160880732	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565272935	chr6:160880757-160880758	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530967877	chr6:160880800-160880801	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551078747	chr6:160880862-160880863	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567788310	chr6:160880905-160880906	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192259958	chr6:160880932-160880933	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184647598	chr6:160880943-160880944	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111489542	chr6:160880951-160880952	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368698937	chr6:160880986-160880987	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115187022	chr6:160881007-160881008	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565871431	chr6:160881013-160881014	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534609936	chr6:160881040-160881041	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551305623	chr6:160881048-160881049	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34183309	chr6:160881128-160881129	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112440021	chr6:160881176-160881177	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200950258	chr6:160881188-160881189	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570898254	chr6:160881240-160881241	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113968834	chr6:160881283-160881284	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536677397	chr6:160881316-160881317	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556562851	chr6:160881317-160881318	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372077346	chr6:160881328-160881329	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73592955	chr6:160881339-160881340	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35446965	chr6:160881357-160881358	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189560698	chr6:160881375-160881376	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139407834	chr6:160881410-160881411	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11970728	chr6:160881438-160881439	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545705695	chr6:160881492-160881493	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160863600-160882800	Weak transcription	Gastric	stomach
2	chr6:160866600-160883800	Weak transcription	Spleen	Spleen
3	chr6:160876600-160882600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr6:160876600-160882600	Enhancers	Dnd41	blood
5	chr6:160876600-160882800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr6:160876600-160882800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:160876600-160883000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:160876800-160883800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:160877200-160882600	Weak transcription	Osteobl	bone
10	chr6:160877400-160882200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:160877400-160882200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:160877400-160882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:160877400-160882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:160877400-160882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:160877400-160882800	Weak transcription	NHLF	lung
16	chr6:160877400-160883800	Weak transcription	Pancreas	Pancrea
17	chr6:160877400-160884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:160877600-160883400	Strong transcription	Liver	Liver
19	chr6:160878200-160885000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:160878400-160882800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:160878400-160882800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:160878600-160882800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:160878600-160884400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:160878800-160882800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:160878800-160883800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:160878800-160883800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:160879200-160880600	Enhancers	Primary B cells from cord blood	blood
28	chr6:160879200-160881200	Bivalent Enhancer	Primary T cells from cord blood	blood
29	chr6:160879200-160883000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr6:160879400-160883800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:160879600-160881000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:160879600-160882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:160879800-160880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:160880000-160883600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:160880400-160881600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:160880600-160882000	Weak transcription	Primary B cells from cord blood	blood
37	chr6:160880800-160883200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:160880800-160883800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:160881000-160881400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr6:160881000-160882200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:160881200-160881400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr6:160881200-160882400	Enhancers	Primary T cells from cord blood	blood
43	chr6:160881200-160882800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:160881400-160883800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:160881400-160884600	Enhancers	Primary hematopoietic stem cells	blood

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