Variant report

Variant	nsv969246
Chromosome Location	chr5:117433218-117437210
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	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531561947	chr5:117433230-117433231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564212430	chr5:117433244-117433245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533072972	chr5:117433248-117433249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568861990	chr5:117433304-117433305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182126419	chr5:117433308-117433309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549747122	chr5:117433310-117433311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560408953	chr5:117433317-117433318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185161856	chr5:117433333-117433334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549041219	chr5:117433369-117433370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147172182	chr5:117433385-117433386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537097033	chr5:117433415-117433416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550651027	chr5:117433418-117433419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537808866	chr5:117433428-117433429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189016594	chr5:117433443-117433444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571676433	chr5:117433456-117433457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181695566	chr5:117433479-117433480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7703353	chr5:117433491-117433492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553117209	chr5:117433500-117433501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573393839	chr5:117433512-117433513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536126418	chr5:117433569-117433570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555835139	chr5:117433594-117433595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111915374	chr5:117433605-117433606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544184290	chr5:117433732-117433733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140362768	chr5:117433733-117433734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577787940	chr5:117433750-117433751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199740676	chr5:117433752-117433753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554273695	chr5:117433759-117433760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566750080	chr5:117433841-117433842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560281632	chr5:117433845-117433846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372955705	chr5:117433848-117433849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529106616	chr5:117433866-117433867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142078071	chr5:117433934-117433935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151136905	chr5:117433999-117434000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531643494	chr5:117434016-117434017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550532548	chr5:117434046-117434047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140416700	chr5:117434077-117434078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372582338	chr5:117434093-117434094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114171672	chr5:117434094-117434095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149954388	chr5:117434106-117434107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146503128	chr5:117434125-117434126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555933886	chr5:117434149-117434150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190419052	chr5:117434157-117434158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141035644	chr5:117434158-117434159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs67929143	chr5:117435809-117435810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558330520	chr5:117435821-117435822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116804219	chr5:117435898-117435899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112151232	chr5:117435906-117435907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560273280	chr5:117435941-117435942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574009251	chr5:117435992-117435993	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117433200-117433800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:117433600-117434200	Enhancers	Fetal Brain Male	brain
3	chr5:117435800-117436000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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