Variant report

Variant	nsv599333
Chromosome Location	chr5:106609174-106618244
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	chr5:106604515..106606446-chr5:106609502..106612435,2	K562	blood:
2	chr5:106601653..106604975-chr5:106606341..106610947,4	MCF-7	breast:

Extended variants
information (count: 367 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34570	chr5:106609174-106609175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6862202	chr5:106609190-106609191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547666195	chr5:106609196-106609197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183440923	chr5:106609217-106609218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34643080	chr5:106609252-106609253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77779227	chr5:106609381-106609382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188505333	chr5:106609449-106609450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376978934	chr5:106609453-106609454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57639363	chr5:106609485-106609486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192060732	chr5:106609583-106609584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150975214	chr5:106609640-106609641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547806356	chr5:106609652-106609653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184876723	chr5:106609695-106609696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564424122	chr5:106609701-106609702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533370346	chr5:106609758-106609759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187684912	chr5:106609781-106609782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78428770	chr5:106609834-106609835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371364280	chr5:106609858-106609859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191428496	chr5:106609913-106609914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183514565	chr5:106609929-106609930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565434337	chr5:106609945-106609946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534369183	chr5:106609955-106609956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140782800	chr5:106609971-106609972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66460437	chr5:106610018-106610019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144634311	chr5:106610023-106610024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539999992	chr5:106610026-106610027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556953715	chr5:106610054-106610055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114030419	chr5:106610060-106610061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542445850	chr5:106610061-106610062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79669237	chr5:106610068-106610069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146695176	chr5:106610139-106610140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189658990	chr5:106610153-106610154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564594781	chr5:106610154-106610155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561783648	chr5:106610186-106610187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533153007	chr5:106610188-106610189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550185219	chr5:106610189-106610190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563820176	chr5:106610260-106610261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17159652	chr5:106610268-106610269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549269249	chr5:106610293-106610294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181093616	chr5:106610302-106610303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544372718	chr5:106610318-106610319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534904163	chr5:106610351-106610352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551033191	chr5:106610354-106610355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115036104	chr5:106610418-106610419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536626658	chr5:106610441-106610442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562858333	chr5:106610448-106610449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140258282	chr5:106610470-106610471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75904891	chr5:106610483-106610484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551639210	chr5:106610496-106610497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145214005	chr5:106610519-106610520	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106604600-106609800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:106606800-106610000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:106608200-106610200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:106609800-106610400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:106609800-106612000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:106610000-106610400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:106610000-106610400	Enhancers	Ovary	ovary
8	chr5:106610000-106610800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:106610200-106610400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:106610400-106610600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:106610800-106611600	Enhancers	A549	lung
12	chr5:106610800-106617400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:106612000-106613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:106613000-106614000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:106617400-106617800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:106617400-106618000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:106617400-106618400	Enhancers	HUVEC	blood vessel
18	chr5:106617400-106618800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:106617600-106618600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:106617800-106618200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:106617800-106621000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:106618000-106618400	Enhancers	Brain Germinal Matrix	brain
23	chr5:106618000-106618600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:106618200-106619400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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