Variant report

Variant	esv3369755
Chromosome Location	chr14:43407152-43409150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554434335	chr14:43407156-43407157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376171210	chr14:43407180-43407181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540176535	chr14:43407187-43407188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558495398	chr14:43407219-43407220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138237540	chr14:43407221-43407222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543472458	chr14:43407246-43407247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562078367	chr14:43407248-43407249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574080367	chr14:43407293-43407294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541126454	chr14:43407330-43407331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559958085	chr14:43407393-43407394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527496331	chr14:43407394-43407395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1667661	chr14:43407418-43407419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs150423358	chr14:43407442-43407443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377265617	chr14:43407443-43407444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551077568	chr14:43407444-43407445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142732512	chr14:43407448-43407449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200057200	chr14:43407464-43407465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184843655	chr14:43407465-43407466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531600841	chr14:43407477-43407478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189355014	chr14:43407528-43407529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180770758	chr14:43407548-43407549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570576119	chr14:43407591-43407592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535590012	chr14:43407597-43407598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57403243	chr14:43407646-43407647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539361868	chr14:43407664-43407665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200728102	chr14:43407672-43407673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79059719	chr14:43407673-43407674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373906721	chr14:43407675-43407676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558300608	chr14:43407679-43407680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185209912	chr14:43407689-43407690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537731598	chr14:43407695-43407696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555527364	chr14:43407723-43407724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573970230	chr14:43407750-43407751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567103004	chr14:43407754-43407755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540989402	chr14:43407816-43407817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61401845	chr14:43407817-43407818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs58864210	chr14:43407863-43407864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11849376	chr14:43407874-43407875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11845534	chr14:43407875-43407876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548622365	chr14:43407892-43407893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59640088	chr14:43407899-43407900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12435400	chr14:43407924-43407925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12432532	chr14:43407925-43407926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545610810	chr14:43407926-43407927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35436198	chr14:43407935-43407936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553674245	chr14:43407951-43407952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12435968	chr14:43407975-43407976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113183171	chr14:43407981-43407982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564291768	chr14:43407985-43407986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531534599	chr14:43407990-43407991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43407000-43413200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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