Variant report

Variant	nsv591282
Chromosome Location	chr3:111244944-111249315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs4473550	chr3:111244944-111244945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552741474	chr3:111244953-111244954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572886221	chr3:111244966-111244967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377585149	chr3:111244967-111244968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370754438	chr3:111244970-111244971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148481105	chr3:111244984-111244985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4535220	chr3:111245011-111245012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150922216	chr3:111245014-111245015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563589247	chr3:111245024-111245025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74855081	chr3:111245057-111245058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75480722	chr3:111245063-111245064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112466723	chr3:111245064-111245065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559521245	chr3:111245124-111245125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140822639	chr3:111245148-111245149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548672945	chr3:111245170-111245171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371795639	chr3:111245274-111245275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374616394	chr3:111245275-111245276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551718911	chr3:111245355-111245356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57085566	chr3:111245357-111245358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192511003	chr3:111245573-111245574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143220603	chr3:111245575-111245576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550799043	chr3:111245616-111245617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116000684	chr3:111245665-111245666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539392748	chr3:111245666-111245667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201078989	chr3:111245689-111245690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202217738	chr3:111245693-111245694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200177065	chr3:111245713-111245714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201341612	chr3:111245728-111245729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201675356	chr3:111245768-111245769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546561491	chr3:111245780-111245781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566374598	chr3:111245830-111245831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183542317	chr3:111245842-111245843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555013320	chr3:111245861-111245862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575007028	chr3:111245864-111245865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9883698	chr3:111245884-111245885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145790858	chr3:111245888-111245889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138286222	chr3:111245914-111245915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116345916	chr3:111245999-111246000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6766795	chr3:111246000-111246001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113825896	chr3:111246009-111246010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573120590	chr3:111246037-111246038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112954598	chr3:111246048-111246049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149213437	chr3:111246056-111246057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562117744	chr3:111246110-111246111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531066946	chr3:111246136-111246137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114169541	chr3:111246169-111246170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112376493	chr3:111246205-111246206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564153121	chr3:111246284-111246285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533237858	chr3:111246310-111246311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546542355	chr3:111246314-111246315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hirschsprung''s Disease	21712996	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
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
Neurodevelopmental disorder	22521361	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111236400-111249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:111243600-111249000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:111245600-111246000	Enhancers	Fetal Thymus	thymus
4	chr3:111249000-111250800	Enhancers	Primary B cells from peripheral blood	blood

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