Variant report

Variant	esv3376699
Chromosome Location	chr14:41584452-41586550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113266798	chr14:41584474-41584475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565205860	chr14:41584486-41584487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35076910	chr14:41584517-41584518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199629070	chr14:41584521-41584522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200648715	chr14:41584522-41584523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201340152	chr14:41584527-41584528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8015118	chr14:41584552-41584553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35392239	chr14:41584590-41584591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569661721	chr14:41584591-41584592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535820844	chr14:41584633-41584634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8014100	chr14:41584634-41584635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs386776768	chr14:41584680-41584681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8014244	chr14:41584681-41584682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148201976	chr14:41584682-41584683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369359269	chr14:41584707-41584708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181033964	chr14:41584740-41584741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545347808	chr14:41584750-41584751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8014293	chr14:41584805-41584806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530949997	chr14:41584845-41584846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539584814	chr14:41584854-41584855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11627564	chr14:41584875-41584876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561436512	chr14:41584892-41584893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528524055	chr14:41584904-41584905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546680690	chr14:41584920-41584921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571556125	chr14:41584970-41584971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532547148	chr14:41584981-41584982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550896419	chr14:41585050-41585051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8018567	chr14:41585051-41585052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537074320	chr14:41585056-41585057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137968500	chr14:41585063-41585064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28766317	chr14:41585123-41585124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567366684	chr14:41585130-41585131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11384914	chr14:41585185-41585186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397792699	chr14:41585194-41585195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10552823	chr14:41585351-41585352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368244659	chr14:41585356-41585357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370897573	chr14:41585366-41585367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57864773	chr14:41585367-41585368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201382765	chr14:41585373-41585374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139055556	chr14:41585378-41585379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370660003	chr14:41585390-41585391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375084235	chr14:41585391-41585392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558028638	chr14:41585426-41585427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202022696	chr14:41585432-41585433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8019196	chr14:41585451-41585452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138822725	chr14:41585523-41585524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368575581	chr14:41585524-41585525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553079415	chr14:41585530-41585531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35741915	chr14:41585537-41585538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201041402	chr14:41585538-41585539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41579600-41592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41585600-41589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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