Variant report

Variant	nsv518266
Chromosome Location	chr3:94865957-94868320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9861253	chr3:94865957-94865958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551983466	chr3:94865994-94865995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112960280	chr3:94866024-94866025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537384127	chr3:94866036-94866037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4106684	chr3:94866070-94866071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75974558	chr3:94866071-94866072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75210777	chr3:94866087-94866088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553164808	chr3:94866098-94866099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573303422	chr3:94866120-94866121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540964984	chr3:94866122-94866123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534503765	chr3:94866151-94866152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117262539	chr3:94866164-94866165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373986421	chr3:94866170-94866171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145770474	chr3:94866185-94866186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543354510	chr3:94866187-94866188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563253725	chr3:94866207-94866208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559117094	chr3:94866209-94866210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115727531	chr3:94866212-94866213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542621636	chr3:94866255-94866256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559165727	chr3:94866435-94866436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9810121	chr3:94866440-94866441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs386663462	chr3:94866471-94866472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3907753	chr3:94866474-94866475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531136391	chr3:94866492-94866493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552267315	chr3:94866493-94866494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76723173	chr3:94866527-94866528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141089347	chr3:94866565-94866566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200027875	chr3:94866577-94866578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143071389	chr3:94866578-94866579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67229176	chr3:94866579-94866580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76610495	chr3:94866580-94866581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72916641	chr3:94866588-94866589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183815949	chr3:94866594-94866595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13075156	chr3:94866612-94866613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566833245	chr3:94866622-94866623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74617514	chr3:94866629-94866630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550614949	chr3:94866650-94866651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558656368	chr3:94866744-94866745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138482853	chr3:94866746-94866747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78972881	chr3:94866804-94866805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536866498	chr3:94866869-94866870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536071987	chr3:94866871-94866872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556800996	chr3:94866881-94866882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573630003	chr3:94866882-94866883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72615782	chr3:94866908-94866909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4437143	chr3:94866966-94866967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572841769	chr3:94867008-94867009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537181164	chr3:94867020-94867021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564975630	chr3:94867039-94867040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145021694	chr3:94867046-94867047	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94865200-94870400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:94865200-94870400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:94865200-94870400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:94865400-94870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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