Variant report

Variant	esv2496148
Chromosome Location	chr14:42485616-42487254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375258141	chr14:42485629-42485630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554583219	chr14:42485643-42485644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574045636	chr14:42485684-42485685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534707473	chr14:42485722-42485723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183836161	chr14:42485757-42485758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577938948	chr14:42485764-42485765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12588452	chr14:42485776-42485777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12588505	chr14:42485790-42485791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187952632	chr14:42485800-42485801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542851196	chr14:42485813-42485814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561822607	chr14:42485814-42485815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556639591	chr14:42485834-42485835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567539361	chr14:42485836-42485837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114650408	chr14:42485847-42485848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547429171	chr14:42485860-42485861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559360869	chr14:42485931-42485932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6572122	chr14:42485933-42485934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147953682	chr14:42485934-42485935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545609071	chr14:42485954-42485955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559195408	chr14:42485970-42485971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117528517	chr14:42485986-42485987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541844510	chr14:42485991-42485992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545122731	chr14:42485992-42485993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141549822	chr14:42486020-42486021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6572123	chr14:42486063-42486064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534767071	chr14:42486103-42486104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553028964	chr14:42486144-42486145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6572124	chr14:42486150-42486151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs8006773	chr14:42486161-42486162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368939916	chr14:42486199-42486200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8008118	chr14:42486203-42486204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs8007094	chr14:42486266-42486267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543213519	chr14:42486272-42486273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375981049	chr14:42486335-42486336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202056216	chr14:42486336-42486337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199987807	chr14:42486337-42486338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200999112	chr14:42486338-42486339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201978511	chr14:42486339-42486340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547242410	chr14:42486479-42486480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200139102	chr14:42486634-42486635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201298251	chr14:42486636-42486637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116828802	chr14:42486654-42486655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147026324	chr14:42486663-42486664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114772033	chr14:42486680-42486681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559475010	chr14:42486696-42486697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116933978	chr14:42486697-42486698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550800246	chr14:42486763-42486764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111527687	chr14:42486787-42486788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537804452	chr14:42486809-42486810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75794514	chr14:42486933-42486934	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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	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
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42484200-42487400	Weak transcription	Primary B cells from cord blood	blood

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