Variant report

Variant	nsv517501
Chromosome Location	chr3:120941578-120970900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 932 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs338971	chr3:120941578-120941579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4085716	chr3:120941581-120941582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182153233	chr3:120941616-120941617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570353835	chr3:120941619-120941620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376701639	chr3:120941653-120941654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112855366	chr3:120941655-120941656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529287588	chr3:120941791-120941792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141798334	chr3:120941832-120941833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11707051	chr3:120941844-120941845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186768873	chr3:120941860-120941861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535725124	chr3:120941883-120941884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369807784	chr3:120941894-120941895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555306958	chr3:120941922-120941923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565833558	chr3:120941939-120941940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140159678	chr3:120941964-120941965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373254798	chr3:120941965-120941966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369882495	chr3:120941970-120941971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534830358	chr3:120942019-120942020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200080603	chr3:120942021-120942022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76881890	chr3:120942033-120942034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371346238	chr3:120942055-120942056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115259083	chr3:120942130-120942131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543454557	chr3:120942151-120942152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556935834	chr3:120942206-120942207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574026049	chr3:120942218-120942219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542874813	chr3:120942341-120942342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559703229	chr3:120942387-120942388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73191438	chr3:120942422-120942423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551976510	chr3:120942523-120942524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372886980	chr3:120942544-120942545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540786543	chr3:120942566-120942567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564242580	chr3:120942610-120942611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533038024	chr3:120942659-120942660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146244912	chr3:120942665-120942666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191559754	chr3:120942674-120942675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529212626	chr3:120942723-120942724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569842235	chr3:120942743-120942744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565757244	chr3:120942772-120942773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117244086	chr3:120942788-120942789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570571268	chr3:120942803-120942804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139264867	chr3:120942825-120942826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144049806	chr3:120942902-120942903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182135821	chr3:120942952-120942953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150528162	chr3:120943033-120943034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573654998	chr3:120943060-120943061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9862691	chr3:120943131-120943132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs55915400	chr3:120943187-120943188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553598742	chr3:120943194-120943195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573444949	chr3:120943238-120943239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545612215	chr3:120943312-120943313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120936400-120955800	Weak transcription	Ovary	ovary
2	chr3:120945000-120945200	Enhancers	Brain Anterior Caudate	brain
3	chr3:120945400-120965200	Weak transcription	Brain Anterior Caudate	brain
4	chr3:120950000-120950800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:120950800-120951000	Enhancers	HMEC	breast
6	chr3:120950800-120951800	Enhancers	Pancreas	Pancrea
7	chr3:120951200-120951800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr3:120951600-120951800	Enhancers	HMEC	breast
9	chr3:120951800-120962600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:120955800-120957000	Strong transcription	Ovary	ovary
11	chr3:120956000-120956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:120956200-120956600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:120957000-120960200	Weak transcription	Ovary	ovary
14	chr3:120958200-120963800	Weak transcription	Brain Angular Gyrus	brain
15	chr3:120960200-120960600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:120960200-120960600	Strong transcription	Ovary	ovary
17	chr3:120960400-120960800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:120960600-120961600	Weak transcription	Ovary	ovary
19	chr3:120960800-120961800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:120961600-120962000	Strong transcription	Ovary	ovary
21	chr3:120961800-120962200	Enhancers	Hela-S3	cervix
22	chr3:120961800-120963800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:120962000-120993000	Weak transcription	Ovary	ovary
24	chr3:120962400-120962600	Weak transcription	Brain Germinal Matrix	brain
25	chr3:120963000-120963400	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr3:120964800-120965000	Enhancers	Esophagus	oesophagus

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