Variant report

Variant	nsv983954
Chromosome Location	chr14:44750052-44756116
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	chr14:44755644..44758887-chr14:44761125..44763162,3	K562	blood:
2	chr14:44754776..44756782-chr14:44760420..44763272,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259148	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540938530	chr14:44752207-44752208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115565902	chr14:44752265-44752266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201865479	chr14:44752295-44752296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554537422	chr14:44752312-44752313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11157392	chr14:44752330-44752331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548165819	chr14:44752414-44752415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566632396	chr14:44752426-44752427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557902420	chr14:44752464-44752465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181449736	chr14:44752478-44752479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559126863	chr14:44752479-44752480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377125868	chr14:44752508-44752509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185547141	chr14:44752604-44752605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62013171	chr14:44752620-44752621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189858414	chr14:44752647-44752648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556946854	chr14:44752685-44752686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575204400	chr14:44752686-44752687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541856204	chr14:44752700-44752701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560143535	chr14:44752704-44752705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17654975	chr14:44752716-44752717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368326988	chr14:44752747-44752748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542455258	chr14:44752750-44752751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562639817	chr14:44752767-44752768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564477761	chr14:44754792-44754793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531860160	chr14:44754799-44754800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142563525	chr14:44754818-44754819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569703894	chr14:44754845-44754846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150923472	chr14:44754939-44754940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529556130	chr14:44754954-44754955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183751840	chr14:44754958-44754959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141973999	chr14:44755059-44755060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540078431	chr14:44755065-44755066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371712719	chr14:44755066-44755067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186582652	chr14:44755145-44755146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115868152	chr14:44755160-44755161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193275386	chr14:44755202-44755203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113982476	chr14:44755217-44755218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553992275	chr14:44755259-44755260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555091941	chr14:44755355-44755356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185425646	chr14:44755393-44755394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534519528	chr14:44755458-44755459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145802392	chr14:44755510-44755511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78284093	chr14:44755516-44755517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190280697	chr14:44755519-44755520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563421573	chr14:44755584-44755585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536018834	chr14:44755632-44755633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375013596	chr14:44755645-44755646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181476757	chr14:44755673-44755674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs8005862	chr14:44755674-44755675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562201844	chr14:44755720-44755721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529362900	chr14:44755750-44755751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44752200-44752800	Enhancers	NHDF-Ad	bronchial

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