Variant report

Variant	nsv522059
Chromosome Location	chr14:42467597-42477256
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	chr14:42462776..42464890-chr14:42474456..42476281,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189773972	chr14:42469206-42469207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554680559	chr14:42469213-42469214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34365942	chr14:42469221-42469222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12893514	chr14:42469243-42469244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150461269	chr14:42469260-42469261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368018015	chr14:42469320-42469321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560131194	chr14:42469325-42469326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558868034	chr14:42469326-42469327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577469145	chr14:42469335-42469336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544860229	chr14:42469345-42469346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138293045	chr14:42469351-42469352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566006384	chr14:42469479-42469480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111516732	chr14:42469517-42469518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542419621	chr14:42469556-42469557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1601593	chr14:42469567-42469568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149612916	chr14:42469595-42469596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201759198	chr14:42469609-42469610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1614577	chr14:42469611-42469612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569749706	chr14:42469723-42469724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528498385	chr14:42469766-42469767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181753574	chr14:42469770-42469771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532327132	chr14:42469784-42469785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550819537	chr14:42469799-42469800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140141410	chr14:42469815-42469816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568796856	chr14:42469833-42469834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8019977	chr14:42469834-42469835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186240973	chr14:42469870-42469871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192097602	chr14:42469871-42469872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567117328	chr14:42469884-42469885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534248458	chr14:42469917-42469918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1624840	chr14:42470003-42470004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577132645	chr14:42470015-42470016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146167769	chr14:42470057-42470058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556844098	chr14:42470126-42470127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71440765	chr14:42470136-42470137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398118117	chr14:42470149-42470150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373724643	chr14:42470150-42470151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556946395	chr14:42470171-42470172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368774835	chr14:42470219-42470220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575206568	chr14:42470224-42470225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542483009	chr14:42470235-42470236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183596875	chr14:42470255-42470256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577053155	chr14:42470276-42470277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112590497	chr14:42470381-42470382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74539082	chr14:42470395-42470396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188481496	chr14:42470402-42470403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532169295	chr14:42470411-42470412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201685759	chr14:42470479-42470480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74920669	chr14:42470530-42470531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546147774	chr14:42470538-42470539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42469200-42469800	Enhancers	Hela-S3	cervix
2	chr14:42469400-42469600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:42469800-42470000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:42469800-42470200	Weak transcription	Hela-S3	cervix
5	chr14:42469800-42471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:42470200-42472000	Enhancers	Hela-S3	cervix
7	chr14:42470800-42471600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:42470800-42471600	Enhancers	A549	lung
9	chr14:42471000-42471800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:42471400-42471800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:42471600-42471800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:42473000-42473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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