Variant report

Variant	esv3693162
Chromosome Location	chr14:41475312-41479417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1959948	chr14:41475312-41475313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1669588	chr14:41475315-41475316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1779608	chr14:41475331-41475332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189287574	chr14:41475348-41475349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181019370	chr14:41475381-41475382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576295973	chr14:41475384-41475385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185004285	chr14:41475423-41475424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372294200	chr14:41475461-41475462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561247319	chr14:41475469-41475470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1959949	chr14:41475499-41475500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113357272	chr14:41475513-41475514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397737814	chr14:41475518-41475519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34877357	chr14:41475519-41475520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77599046	chr14:41475547-41475548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541577766	chr14:41475558-41475559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539338719	chr14:41475602-41475603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369793351	chr14:41475638-41475639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371390146	chr14:41475651-41475652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1612496	chr14:41475683-41475684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189993892	chr14:41475693-41475694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181337291	chr14:41475708-41475709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371366561	chr14:41475734-41475735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35136536	chr14:41475735-41475736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199658071	chr14:41475755-41475756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544045103	chr14:41475756-41475757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3031358	chr14:41475757-41475758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574718675	chr14:41475758-41475759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569132342	chr14:41475762-41475763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537854408	chr14:41475763-41475764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397835497	chr14:41475767-41475768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60132753	chr14:41475768-41475769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567755536	chr14:41475807-41475808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535170643	chr14:41475840-41475841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148038486	chr14:41475897-41475898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368912136	chr14:41475916-41475917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76569242	chr14:41475988-41475989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186413344	chr14:41476029-41476030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533553698	chr14:41476077-41476078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1669587	chr14:41476093-41476094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151208631	chr14:41476169-41476170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1669586	chr14:41476204-41476205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560356328	chr14:41476216-41476217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1779609	chr14:41476239-41476240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555917771	chr14:41476243-41476244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12882560	chr14:41476257-41476258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574127942	chr14:41476266-41476267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1669585	chr14:41476282-41476283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559842028	chr14:41476351-41476352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533480527	chr14:41476371-41476372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10132082	chr14:41476384-41476385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:41474000-41476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links