Variant report

Variant	esv3509675
Chromosome Location	chr14:40097035-40100881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3888878	chr14:40097045-40097046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550432487	chr14:40097085-40097086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563851898	chr14:40097099-40097100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191197020	chr14:40097109-40097110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556061661	chr14:40097111-40097112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116364782	chr14:40097122-40097123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183357581	chr14:40097150-40097151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200787205	chr14:40097159-40097160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2415553	chr14:40097160-40097161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199506157	chr14:40097164-40097165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373575118	chr14:40097165-40097166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201760969	chr14:40097175-40097176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548287128	chr14:40097236-40097237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11848547	chr14:40097242-40097243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568580636	chr14:40097247-40097248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191362846	chr14:40097262-40097263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556764295	chr14:40097272-40097273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28715266	chr14:40097301-40097302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551667502	chr14:40097305-40097306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs753446	chr14:40097322-40097323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs386776647	chr14:40097343-40097344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs910793	chr14:40097358-40097359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184941397	chr14:40097403-40097404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553881384	chr14:40097435-40097436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541853453	chr14:40097490-40097491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs753445	chr14:40097576-40097577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575327398	chr14:40097578-40097579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62014290	chr14:40097594-40097595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564412685	chr14:40097604-40097605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528768153	chr14:40097625-40097626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146383050	chr14:40097628-40097629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187864176	chr14:40097662-40097663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139768443	chr14:40097685-40097686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560041456	chr14:40097748-40097749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547364050	chr14:40097780-40097781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528771871	chr14:40097792-40097793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548596724	chr14:40097832-40097833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568340332	chr14:40097845-40097846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193155595	chr14:40097962-40097963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60099186	chr14:40098000-40098001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184999561	chr14:40098030-40098031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533426508	chr14:40098038-40098039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61425736	chr14:40098072-40098073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs910794	chr14:40098075-40098076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144188860	chr14:40098144-40098145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142039068	chr14:40098170-40098171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550096367	chr14:40098194-40098195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11428524	chr14:40098251-40098252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397807879	chr14:40098254-40098255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397764610	chr14:40098255-40098256	Enhancers	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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40095400-40097800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:40096600-40097200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:40096800-40098200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:40096800-40098400	Enhancers	Primary T cells from cord blood	blood
5	chr14:40096800-40098400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:40097200-40097600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:40097200-40098200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr14:40097200-40098200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr14:40097200-40098400	Enhancers	Dnd41	blood
10	chr14:40097400-40098200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:40097600-40098000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:40097600-40098200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:40097800-40098400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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