Variant report

Variant	nsv524097
Chromosome Location	chr14:43622752-43631485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:43627304..43628817-chr14:43633953..43636435,2	MCF-7	breast:

Extended variants
information (count: 238 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1899147	chr14:43622752-43622753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545053044	chr14:43622768-43622769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538443806	chr14:43622786-43622787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556336115	chr14:43622811-43622812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568564113	chr14:43622822-43622823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570339550	chr14:43622865-43622866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531164910	chr14:43622882-43622883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10498380	chr14:43622917-43622918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143034117	chr14:43622930-43622931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572152636	chr14:43622937-43622938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149551265	chr14:43622948-43622949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201763275	chr14:43622949-43622950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540123490	chr14:43622962-43622963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558435807	chr14:43622969-43622970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73339960	chr14:43623119-43623120	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570073175	chr14:43623187-43623188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544416019	chr14:43623253-43623254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148188610	chr14:43623259-43623260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529780245	chr14:43623281-43623282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141223977	chr14:43623330-43623331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561602826	chr14:43623331-43623332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180895077	chr14:43623343-43623344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186437368	chr14:43623353-43623354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189625683	chr14:43623378-43623379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28673820	chr14:43623379-43623380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2807793	chr14:43623380-43623381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71411681	chr14:43623389-43623390	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555236286	chr14:43623396-43623397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575067459	chr14:43623413-43623414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8015632	chr14:43623417-43623418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376694381	chr14:43623439-43623440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367887984	chr14:43623446-43623447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113525412	chr14:43623505-43623506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531439637	chr14:43623506-43623507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372869105	chr14:43623518-43623519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533627163	chr14:43623532-43623533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140189584	chr14:43623563-43623564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374784526	chr14:43623605-43623606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181777887	chr14:43623609-43623610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558400384	chr14:43623616-43623617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577082039	chr14:43623636-43623637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537783631	chr14:43623693-43623694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556300872	chr14:43623709-43623710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186896491	chr14:43623760-43623761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78298917	chr14:43623788-43623789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11851074	chr14:43623816-43623817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551475201	chr14:43623851-43623852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572024806	chr14:43623857-43623858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545837804	chr14:43623876-43623877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564592176	chr14:43623899-43623900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43617200-43626600	Weak transcription	Fetal Lung	lung
2	chr14:43622600-43623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:43626600-43626800	Enhancers	Fetal Lung	lung
4	chr14:43630200-43631000	Enhancers	A549	lung
5	chr14:43631000-43634600	Weak transcription	A549	lung

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