Variant report

Variant	nsv967259
Chromosome Location	chr3:94386742-94394452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:94381842..94384742-chr3:94386327..94389293,2	K562	blood:
2	chr3:94388694..94391363-chr3:94392132..94394080,2	K562	blood:
3	chr3:94388694..94391363-chr3:94392132..94394080,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375874166	chr3:94387213-94387214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73846576	chr3:94387243-94387244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529841195	chr3:94387258-94387259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145433508	chr3:94387291-94387292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566540662	chr3:94387321-94387322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538649257	chr3:94387368-94387369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114206172	chr3:94387374-94387375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569105989	chr3:94387393-94387394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138161185	chr3:94387486-94387487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554502456	chr3:94387510-94387511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555374224	chr3:94387634-94387635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573923510	chr3:94387635-94387636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149948766	chr3:94387669-94387670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13068356	chr3:94387677-94387678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576878049	chr3:94387685-94387686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34998677	chr3:94387727-94387728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114154707	chr3:94387729-94387730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188300666	chr3:94387748-94387749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576696120	chr3:94387770-94387771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542484240	chr3:94387806-94387807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545540114	chr3:94387841-94387842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377635240	chr3:94387863-94387864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181123348	chr3:94387889-94387890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550683227	chr3:94387932-94387933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145616602	chr3:94390026-94390027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557261925	chr3:94390033-94390034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541128147	chr3:94390096-94390097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576121203	chr3:94390136-94390137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191660071	chr3:94390176-94390177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561414879	chr3:94390193-94390194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35387909	chr3:94390196-94390197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145201666	chr3:94390212-94390213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183431368	chr3:94390225-94390226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564408007	chr3:94390243-94390244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533074819	chr3:94390257-94390258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549992082	chr3:94390271-94390272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563326126	chr3:94390332-94390333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116677925	chr3:94390333-94390334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549521099	chr3:94390355-94390356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148709098	chr3:94390362-94390363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535027086	chr3:94390400-94390401	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94387200-94388000	Enhancers	Fetal Intestine Large	intestine
2	chr3:94390000-94390400	Enhancers	A549	lung

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