Variant report

Variant	nsv518706
Chromosome Location	chr14:55944612-55946617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55946573..55948131-chr14:56047906..56049458,2	K562	blood:
2	chr14:55934279..55936415-chr14:55944398..55946379,2	K562	blood:
3	chr14:55935959..55937646-chr14:55943697..55946148,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12884010	chr14:55944612-55944613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145930887	chr14:55944774-55944775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190536034	chr14:55944816-55944817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78937571	chr14:55944834-55944835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77498592	chr14:55944835-55944836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58398430	chr14:55944902-55944903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527440000	chr14:55945011-55945012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112877601	chr14:55945045-55945046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542545241	chr14:55945049-55945050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4901572	chr14:55945065-55945066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149313014	chr14:55945081-55945082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182016355	chr14:55945119-55945120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371368577	chr14:55945234-55945235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538741322	chr14:55945252-55945253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77277655	chr14:55945274-55945275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577978297	chr14:55945299-55945300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144548817	chr14:55945395-55945396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78850356	chr14:55945398-55945399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555189714	chr14:55945427-55945428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71131274	chr14:55945453-55945454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553570231	chr14:55945488-55945489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576705509	chr14:55945493-55945494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186009596	chr14:55945495-55945496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573213305	chr14:55945515-55945516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113080270	chr14:55945528-55945529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565299244	chr14:55945529-55945530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577126749	chr14:55945579-55945580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559197642	chr14:55945591-55945592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113625646	chr14:55945596-55945597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530125197	chr14:55945644-55945645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11850598	chr14:55945657-55945658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528120709	chr14:55945668-55945669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550953290	chr14:55945690-55945691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56951639	chr14:55945698-55945699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531653767	chr14:55945719-55945720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549772480	chr14:55945731-55945732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188894632	chr14:55945743-55945744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182315929	chr14:55945749-55945750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371963703	chr14:55945777-55945778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181346883	chr14:55945817-55945818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565820177	chr14:55945826-55945827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536336025	chr14:55945841-55945842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10147924	chr14:55945873-55945874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571018809	chr14:55945884-55945885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61976596	chr14:55945919-55945920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531930574	chr14:55945963-55945964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537759877	chr14:55945981-55945982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545303770	chr14:55946006-55946007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7157992	chr14:55946036-55946037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10150107	chr14:55946048-55946049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55942000-55948400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55943400-55945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:55943600-55945200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:55944000-55946200	Enhancers	Pancreas	Pancrea
5	chr14:55944200-55944800	Enhancers	HSMMtube	muscle
6	chr14:55944400-55944800	Enhancers	Adipose Nuclei	Adipose
7	chr14:55944400-55946000	Enhancers	Left Ventricle	heart
8	chr14:55945400-55949600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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