Variant report

Variant	nsv967218
Chromosome Location	chr3:56005506-56012261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:56011518..56013097-chr3:56017177..56019387,2	K562	blood:
2	chr3:56003540..56006310-chr3:56015032..56016814,2	MCF-7	breast:
3	chr3:56007673..56009341-chr3:56015125..56017166,2	K562	blood:

Extended variants
information (count: 220 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs561962430	chr3:56005508-56005509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552495803	chr3:56005572-56005573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566063173	chr3:56005588-56005589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535083230	chr3:56005593-56005594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368882285	chr3:56005605-56005606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555083212	chr3:56005652-56005653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11717188	chr3:56005655-56005656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541208952	chr3:56005709-56005710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111993672	chr3:56005715-56005716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11713587	chr3:56005791-56005792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373756777	chr3:56005852-56005853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545486016	chr3:56005945-56005946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559276506	chr3:56006014-56006015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11709605	chr3:56006015-56006016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148300302	chr3:56006050-56006051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141305162	chr3:56006075-56006076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561426757	chr3:56006117-56006118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113136012	chr3:56006130-56006131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375521006	chr3:56006155-56006156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77235327	chr3:56006177-56006178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186824576	chr3:56006217-56006218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564466848	chr3:56006250-56006251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369342044	chr3:56006287-56006288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533226795	chr3:56006303-56006304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111900191	chr3:56006323-56006324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566097020	chr3:56006335-56006336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528451019	chr3:56006336-56006337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551536215	chr3:56006346-56006347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548745403	chr3:56006417-56006418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568556207	chr3:56006431-56006432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569029272	chr3:56006477-56006478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557544406	chr3:56006479-56006480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146010107	chr3:56006536-56006537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540094630	chr3:56006547-56006548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553375690	chr3:56006561-56006562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566711777	chr3:56006616-56006617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572824792	chr3:56006654-56006655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541422929	chr3:56006655-56006656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531590128	chr3:56006665-56006666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555084104	chr3:56006692-56006693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139497498	chr3:56006718-56006719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544022856	chr3:56006766-56006767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149698176	chr3:56006778-56006779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111379514	chr3:56006856-56006857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191381265	chr3:56006908-56006909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117748377	chr3:56006909-56006910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528526511	chr3:56007025-56007026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371505876	chr3:56007135-56007136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548560918	chr3:56007137-56007138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76912335	chr3:56007152-56007153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:55993000-56009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:56003800-56017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:56003800-56023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:56008200-56008800	Enhancers	Right Atrium	heart
5	chr3:56008600-56009000	Enhancers	Fetal Muscle Leg	muscle
6	chr3:56010600-56011000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:56011800-56013800	Enhancers	Fetal Heart	heart

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