Variant report

Variant	nsv823188
Chromosome Location	chr5:116685962-116688101
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	chr5:116680619..116683137-chr5:116684782..116686469,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74412392	chr5:116685991-116685992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563211401	chr5:116686006-116686007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4259204	chr5:116686021-116686022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533977288	chr5:116686022-116686023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545361109	chr5:116686047-116686048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187638622	chr5:116686060-116686061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191812781	chr5:116686075-116686076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535758749	chr5:116686122-116686123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4563664	chr5:116686213-116686214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575514438	chr5:116686227-116686228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113588840	chr5:116686237-116686238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544288383	chr5:116686263-116686264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557918540	chr5:116686287-116686288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4566827	chr5:116686297-116686298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4498285	chr5:116686307-116686308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs5011797	chr5:116686318-116686319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6869527	chr5:116686338-116686339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375624308	chr5:116686353-116686354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543328584	chr5:116686354-116686355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34406601	chr5:116686361-116686362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531821791	chr5:116686363-116686364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13354440	chr5:116686372-116686373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147125829	chr5:116686379-116686380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538578973	chr5:116686380-116686381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184076996	chr5:116686387-116686388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372950139	chr5:116686454-116686455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547322682	chr5:116686491-116686492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189055909	chr5:116686503-116686504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193016738	chr5:116686524-116686525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555648449	chr5:116686527-116686528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138511416	chr5:116686568-116686569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538063563	chr5:116686581-116686582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557879812	chr5:116686597-116686598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183661886	chr5:116686598-116686599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540328323	chr5:116686620-116686621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6870045	chr5:116686627-116686628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6888983	chr5:116686647-116686648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6870063	chr5:116686653-116686654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562871199	chr5:116686683-116686684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531786226	chr5:116686731-116686732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186558902	chr5:116686733-116686734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565146386	chr5:116686807-116686808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527736314	chr5:116686829-116686830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76145507	chr5:116686838-116686839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150236248	chr5:116686893-116686894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142297147	chr5:116686910-116686911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575690408	chr5:116686912-116686913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191791882	chr5:116686960-116686961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77768009	chr5:116686965-116686966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75917527	chr5:116686970-116686971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116683600-116689000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:116687000-116687200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:116687200-116697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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