Variant report

Variant	nsv525317
Chromosome Location	chr5:106308008-106311248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4382150	chr5:106308008-106308009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148113957	chr5:106308019-106308020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535763972	chr5:106308094-106308095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556071160	chr5:106308150-106308151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72784383	chr5:106308155-106308156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534920431	chr5:106308174-106308175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557395983	chr5:106308185-106308186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530305042	chr5:106308203-106308204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577338314	chr5:106308244-106308245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192853997	chr5:106308345-106308346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146526057	chr5:106308399-106308400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550140883	chr5:106308400-106308401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115869292	chr5:106308408-106308409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542537818	chr5:106308418-106308419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559719395	chr5:106308425-106308426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561379001	chr5:106308443-106308444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528262230	chr5:106308454-106308455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184985054	chr5:106308464-106308465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139069903	chr5:106308481-106308482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62378354	chr5:106308561-106308562	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142973151	chr5:106308570-106308571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189314933	chr5:106308591-106308592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535868948	chr5:106308628-106308629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150593789	chr5:106308644-106308645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566045634	chr5:106308683-106308684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138624408	chr5:106308722-106308723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557929749	chr5:106308724-106308725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114977025	chr5:106308806-106308807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536746329	chr5:106308962-106308963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562583897	chr5:106308970-106308971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573543603	chr5:106308988-106308989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60473925	chr5:106309157-106309158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368400687	chr5:106309187-106309188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73204200	chr5:106309197-106309198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553277399	chr5:106309234-106309235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12054932	chr5:106309238-106309239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376240971	chr5:106309271-106309272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180885192	chr5:106309305-106309306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530779356	chr5:106309348-106309349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185489479	chr5:106309374-106309375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529236342	chr5:106309375-106309376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149299000	chr5:106309442-106309443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565983536	chr5:106309451-106309452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112326689	chr5:106309461-106309462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112518247	chr5:106309470-106309471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73205905	chr5:106309482-106309483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139296395	chr5:106309486-106309487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556749197	chr5:106309590-106309591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567378894	chr5:106309610-106309611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78445518	chr5:106309616-106309617	Enhancers Weak transcription	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106295800-106309400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:106298800-106308400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:106300200-106309000	Weak transcription	Fetal Heart	heart
4	chr5:106300800-106308200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:106302400-106308400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:106302400-106314200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:106302600-106308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:106304600-106313000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:106308000-106313600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:106308200-106308600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:106308200-106312000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:106308400-106310800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:106308400-106312200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:106308400-106313200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:106308600-106308800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:106308600-106309800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:106308600-106310000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:106308800-106314200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:106309000-106310400	Enhancers	Fetal Heart	heart
20	chr5:106309200-106309800	Enhancers	Colon Smooth Muscle	Colon
21	chr5:106309400-106313200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:106309800-106310400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:106309800-106310600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:106309800-106313200	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:106310000-106310400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:106310000-106310600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:106310400-106310600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:106310400-106311800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:106310600-106311400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:106310600-106312000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:106310600-106312200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:106310800-106311200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:106311200-106313200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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