Variant report

Variant	nsv564350
Chromosome Location	chr14:38127875-38136369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:38060700..38073158-chr14:38106984..38130497,55	MCF-7	breast:
2	chr14:38056260..38058013-chr14:38136356..38140465,3	MCF-7	breast:
3	chr14:38060951..38065801-chr14:38133423..38140633,9	MCF-7	breast:
4	chr14:38063388..38066234-chr14:38126834..38129213,3	MCF-7	breast:
5	chr14:38060438..38062133-chr14:38130712..38132708,2	MCF-7	breast:
6	chr14:38135828..38138506-chr14:38180627..38182501,2	MCF-7	breast:
7	chr14:38050621..38053581-chr14:38135495..38137848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9671863	chr14:38127875-38127876	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs177878	chr14:38127890-38127891	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564381956	chr14:38127891-38127892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577300035	chr14:38127902-38127903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375115803	chr14:38127938-38127939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546266041	chr14:38127981-38127982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559571734	chr14:38127984-38127985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187989111	chr14:38127996-38127997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs177879	chr14:38128020-38128021	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562281320	chr14:38128096-38128097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531014857	chr14:38128130-38128131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74729995	chr14:38128135-38128136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs78612126	chr14:38128139-38128140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76077431	chr14:38128144-38128145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570483551	chr14:38128156-38128157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550824717	chr14:38128164-38128165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570852229	chr14:38128165-38128166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370384955	chr14:38128183-38128184	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146108422	chr14:38128186-38128187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74917927	chr14:38128216-38128217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75330973	chr14:38128226-38128227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111621899	chr14:38128267-38128268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553753537	chr14:38128281-38128282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566358199	chr14:38128287-38128288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs177880	chr14:38128294-38128295	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555170453	chr14:38128299-38128300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142559412	chr14:38128319-38128320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556809415	chr14:38128320-38128321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112847129	chr14:38128337-38128338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370702327	chr14:38128350-38128351	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558080246	chr14:38128352-38128353	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150944344	chr14:38128357-38128358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574485929	chr14:38128374-38128375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs177881	chr14:38128379-38128380	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112746088	chr14:38128394-38128395	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183730545	chr14:38128419-38128420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs35891950	chr14:38128432-38128433	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542265282	chr14:38128470-38128471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111473626	chr14:38128491-38128492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140683939	chr14:38128513-38128514	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149754603	chr14:38128581-38128582	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147854658	chr14:38128589-38128590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374659886	chr14:38128629-38128630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs118011646	chr14:38128632-38128633	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533410816	chr14:38128672-38128673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141625423	chr14:38128711-38128712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs138639948	chr14:38128713-38128714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142917913	chr14:38128714-38128715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368018101	chr14:38128715-38128716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572570207	chr14:38128719-38128720	Weak transcription	Chromatin interactive region	2 gene(s)	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
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	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38124800-38138200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:38125000-38137600	Weak transcription	NH-A	brain
3	chr14:38132400-38133600	Enhancers	Liver	Liver

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