Variant report

Variant	nsv1016871
Chromosome Location	chr5:46199422-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
2	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:
3	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
4	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:

Extended variants
information (count: 16167 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:16167 , 50 per page) page: 1 2 3 4 5 6 7 ... 324

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115866695	chr5:46200203-46200204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535464135	chr5:46200239-46200240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs555090634	chr5:46200249-46200250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565734353	chr5:46200259-46200260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs79304533	chr5:46200289-46200290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150879734	chr5:46200303-46200304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577461432	chr5:46200309-46200310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182730200	chr5:46200312-46200313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139496444	chr5:46200327-46200328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs10075544	chr5:46200346-46200347	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs576006309	chr5:46200350-46200351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149698010	chr5:46200351-46200352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10075547	chr5:46200354-46200355	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs10075550	chr5:46200373-46200374	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs541168785	chr5:46200398-46200399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187422531	chr5:46200429-46200430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564662466	chr5:46200441-46200442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191540966	chr5:46200445-46200446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182610395	chr5:46200452-46200453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570336369	chr5:46200455-46200456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529578004	chr5:46200473-46200474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77859471	chr5:46200484-46200485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555552628	chr5:46200491-46200492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534714420	chr5:46200497-46200498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531009992	chr5:46200525-46200526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557469634	chr5:46200529-46200530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568216139	chr5:46200533-46200534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140227283	chr5:46200544-46200545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374464347	chr5:46200564-46200565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556756071	chr5:46200575-46200576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367770414	chr5:46200616-46200617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533761066	chr5:46200639-46200640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542566821	chr5:46200640-46200641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562056940	chr5:46200661-46200662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs555685836	chr5:46200663-46200664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144011439	chr5:46200666-46200667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188380360	chr5:46200713-46200714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564600644	chr5:46200727-46200728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs529354712	chr5:46200732-46200733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533487179	chr5:46200737-46200738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62370798	chr5:46200743-46200744	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563884409	chr5:46200747-46200748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529547110	chr5:46200750-46200751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549461173	chr5:46200753-46200754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146516673	chr5:46200759-46200760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs8175443	chr5:46200784-46200785	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201554002	chr5:46200806-46200807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79485067	chr5:46200825-46200826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570978257	chr5:46200837-46200838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371639941	chr5:46200847-46200848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:717 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46200200-46203400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46205600-46206600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr5:46208000-46210400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:46208600-46211000	ZNF genes & repeats	Liver	Liver
5	chr5:46210400-46211200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr5:46212200-46216200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:46214400-46232200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:46218000-46218200	ZNF genes & repeats	HepG2	liver
9	chr5:46218000-46221400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr5:46219200-46220600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr5:46220000-46223800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:46220800-46223600	ZNF genes & repeats	Psoas Muscle	Psoas
13	chr5:46220800-46224000	ZNF genes & repeats	Liver	Liver
14	chr5:46221600-46224000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr5:46228600-46233000	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr5:46228800-46233200	ZNF genes & repeats	Liver	Liver
17	chr5:46229000-46233200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr5:46229200-46232000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:46229600-46232400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr5:46232800-46233600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:46233800-46238400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr5:46235400-46238000	ZNF genes & repeats	Liver	Liver
23	chr5:46235400-46245400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:46235800-46243600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr5:46238600-46239200	Active TSS	Aorta	Aorta
26	chr5:46240000-46240400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr5:46241200-46246000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr5:46241800-46246600	ZNF genes & repeats	Liver	Liver
29	chr5:46243000-46244200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr5:46245400-46246000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr5:46245800-46246600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr5:46246000-46247000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:46246400-46246800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr5:46248800-46249000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr5:46248800-46249200	Active TSS	Right Atrium	heart
36	chr5:46248800-46259400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:46253800-46261000	ZNF genes & repeats	Liver	Liver
38	chr5:46259600-46260800	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr5:46263200-46264800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr5:46266000-46268200	ZNF genes & repeats	Liver	Liver
41	chr5:46266200-46266600	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr5:46266200-46269400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr5:46266200-46270400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:46268400-46269200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:46269600-46270200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr5:46276600-46282600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr5:46278600-46281200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr5:46279400-46283000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr5:46279600-46285000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:46280000-46280800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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