Variant report

Variant	nsv969463
Chromosome Location	chr6:160914125-160918235
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	chr6:160915674..160918470-chr6:160928618..160930503,2	K562	blood:

Extended variants
information (count: 230 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549300786	chr6:160914133-160914134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140250425	chr6:160914139-160914140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9457929	chr6:160914143-160914144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562597671	chr6:160914187-160914188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10710535	chr6:160914198-160914199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531681301	chr6:160914201-160914202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398085467	chr6:160914206-160914207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186791100	chr6:160914292-160914293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191631047	chr6:160914301-160914302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527306614	chr6:160914305-160914306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547062710	chr6:160914338-160914339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570531311	chr6:160914339-160914340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7749836	chr6:160914343-160914344	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372461993	chr6:160914361-160914362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144489448	chr6:160914400-160914401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181821566	chr6:160914404-160914405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550390306	chr6:160914411-160914412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570249023	chr6:160914432-160914433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376072468	chr6:160914438-160914439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9346818	chr6:160914460-160914461	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555781409	chr6:160914467-160914468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186507368	chr6:160914512-160914513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113684004	chr6:160914544-160914545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557915624	chr6:160914550-160914551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578054912	chr6:160914564-160914565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142911276	chr6:160914572-160914573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111309008	chr6:160914577-160914578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556353786	chr6:160914588-160914589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189766085	chr6:160914594-160914595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541689343	chr6:160914596-160914597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182423097	chr6:160914647-160914648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373352565	chr6:160914654-160914655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540634950	chr6:160914677-160914678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112154807	chr6:160914679-160914680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116714967	chr6:160914736-160914737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550085088	chr6:160914770-160914771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574092234	chr6:160914796-160914797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563940908	chr6:160914815-160914816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552419715	chr6:160914861-160914862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78803239	chr6:160914874-160914875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565740843	chr6:160914878-160914879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549668408	chr6:160914905-160914906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187964833	chr6:160914906-160914907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534973121	chr6:160914922-160914923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551790896	chr6:160914931-160914932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571631615	chr6:160914992-160914993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537589628	chr6:160914994-160914995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557192397	chr6:160915030-160915031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575805184	chr6:160915047-160915048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535273441	chr6:160915048-160915049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160884400-160928200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:160893800-160921800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:160893800-160923200	Strong transcription	Liver	Liver
4	chr6:160894400-160915200	Weak transcription	Esophagus	oesophagus
5	chr6:160894800-160923800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:160897000-160914200	Weak transcription	Gastric	stomach
7	chr6:160897800-160923000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:160898000-160922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:160900400-160923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:160902000-160921000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:160902200-160914200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:160902800-160915400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:160902800-160923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:160903400-160923400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:160903600-160923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:160903600-160924000	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:160904400-160920600	Weak transcription	Pancreas	Pancrea
18	chr6:160904800-160924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:160905200-160923000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:160905400-160923400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:160905400-160924800	Weak transcription	Ovary	ovary
22	chr6:160908200-160916800	Weak transcription	Aorta	Aorta
23	chr6:160908200-160920800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:160911400-160914200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:160911800-160914400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:160912000-160924000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:160913000-160921000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:160913200-160914800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:160913200-160915000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:160913200-160922200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:160913800-160920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:160914200-160920400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:160914400-160919400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:160916800-160917200	ZNF genes & repeats	Aorta	Aorta
35	chr6:160917200-160918400	Weak transcription	Aorta	Aorta

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