Variant report

Variant	nsv523789
Chromosome Location	chr5:105967128-105972148
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	chr5:105971307..105972912-chr5:105974720..105977019,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190038381	chr5:105969222-105969223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182306894	chr5:105969248-105969249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538257889	chr5:105969289-105969290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558497354	chr5:105969356-105969357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575257265	chr5:105969358-105969359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537978534	chr5:105969384-105969385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554680347	chr5:105969413-105969414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574729798	chr5:105969489-105969490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112348371	chr5:105969519-105969520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560467089	chr5:105969591-105969592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577041157	chr5:105969595-105969596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368291624	chr5:105969619-105969620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10059626	chr5:105969636-105969637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs5870211	chr5:105969638-105969639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3073477	chr5:105969639-105969640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34530921	chr5:105969641-105969642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541044116	chr5:105969663-105969664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188256836	chr5:105969723-105969724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7702738	chr5:105969756-105969757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13152925	chr5:105969762-105969763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7702741	chr5:105969763-105969764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555087035	chr5:105969772-105969773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546742361	chr5:105969832-105969833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566844247	chr5:105969843-105969844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116632007	chr5:105969866-105969867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7702903	chr5:105969871-105969872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75531842	chr5:105969966-105969967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537436655	chr5:105969999-105970000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367757464	chr5:105970003-105970004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543852800	chr5:105970015-105970016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144447182	chr5:105970047-105970048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534001190	chr5:105970054-105970055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553977014	chr5:105970080-105970081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138512431	chr5:105970087-105970088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546108067	chr5:105970100-105970101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556182435	chr5:105970102-105970103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569815971	chr5:105970115-105970116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367942763	chr5:105970127-105970128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575634557	chr5:105970171-105970172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372139497	chr5:105970193-105970194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544160062	chr5:105970204-105970205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561050169	chr5:105970232-105970233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181075170	chr5:105970266-105970267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144120857	chr5:105970267-105970268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72796431	chr5:105970268-105970269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185328950	chr5:105970314-105970315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552877508	chr5:105970370-105970371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559615621	chr5:105970408-105970409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569437928	chr5:105970449-105970450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115143086	chr5:105970477-105970478	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105969200-105969600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:105969600-105970000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:105969800-105970600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:105969800-105970600	Enhancers	HUVEC	blood vessel
5	chr5:105970600-105972400	Weak transcription	HUVEC	blood vessel

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