Variant report

Variant	nsv527069
Chromosome Location	chr3:99052147-99056994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs9861463	chr3:99052147-99052148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181991617	chr3:99052151-99052152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60497922	chr3:99052202-99052203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373339625	chr3:99052203-99052204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553326481	chr3:99052213-99052214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397952632	chr3:99052214-99052215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573140650	chr3:99052226-99052227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545257464	chr3:99052230-99052231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369544653	chr3:99052268-99052269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57267904	chr3:99052269-99052270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565068781	chr3:99052270-99052271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67014547	chr3:99052278-99052279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142026096	chr3:99052287-99052288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112521499	chr3:99052288-99052289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397822769	chr3:99052289-99052290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201726951	chr3:99052290-99052291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199873597	chr3:99052304-99052305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544284089	chr3:99052324-99052325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560779909	chr3:99052331-99052332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529642602	chr3:99052348-99052349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147074150	chr3:99052355-99052356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559632420	chr3:99052366-99052367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528741728	chr3:99052383-99052384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184830942	chr3:99052398-99052399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16841056	chr3:99052465-99052466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138348544	chr3:99052501-99052502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189330358	chr3:99052502-99052503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9866047	chr3:99052509-99052510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536661630	chr3:99052525-99052526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17823527	chr3:99052574-99052575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573202005	chr3:99052584-99052585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149140751	chr3:99052628-99052629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558510233	chr3:99052700-99052701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552205739	chr3:99052730-99052731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564379455	chr3:99052735-99052736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575403777	chr3:99052840-99052841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143219981	chr3:99052844-99052845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185765212	chr3:99052849-99052850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148277879	chr3:99052869-99052870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571124459	chr3:99052876-99052877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141375370	chr3:99052879-99052880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559716396	chr3:99052888-99052889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528802984	chr3:99052909-99052910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113040261	chr3:99052929-99052930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1994038	chr3:99052969-99052970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117763415	chr3:99052981-99052982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191454889	chr3:99052983-99052984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530152011	chr3:99052992-99052993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1994039	chr3:99053014-99053015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530195705	chr3:99053089-99053090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99050000-99055200	Weak transcription	Aorta	Aorta
2	chr3:99050000-99056600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:99050800-99052200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:99055200-99056000	Enhancers	Aorta	Aorta
5	chr3:99056000-99057200	Weak transcription	Aorta	Aorta

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