Variant report

Variant	nsv1027538
Chromosome Location	chr5:46161510-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 18150 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:18150 , 50 per page) page: 1 2 3 4 5 6 7 ... 363

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73097275	chr5:46161514-46161515	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114523534	chr5:46161517-46161518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541760429	chr5:46161521-46161522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182550623	chr5:46161532-46161533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116502712	chr5:46161535-46161536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539930110	chr5:46161551-46161552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560247125	chr5:46161583-46161584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532538067	chr5:46161586-46161587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112899151	chr5:46161587-46161588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557821987	chr5:46161632-46161633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs137912432	chr5:46161638-46161639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372826269	chr5:46161648-46161649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188062029	chr5:46161711-46161712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376301170	chr5:46161721-46161722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548780094	chr5:46161724-46161725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568719821	chr5:46161743-46161744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370700660	chr5:46161761-46161762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576407789	chr5:46161767-46161768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191788387	chr5:46161785-46161786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs115937041	chr5:46161804-46161805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537709227	chr5:46161815-46161816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116779898	chr5:46161816-46161817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539442571	chr5:46161844-46161845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187250804	chr5:46161845-46161846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569388892	chr5:46161883-46161884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574264122	chr5:46161892-46161893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76818764	chr5:46161903-46161904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560251026	chr5:46161931-46161932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555132952	chr5:46161933-46161934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs28766324	chr5:46161940-46161941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534565225	chr5:46161974-46161975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35077862	chr5:46166612-46166613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs186816188	chr5:46166623-46166624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs192393987	chr5:46166628-46166629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147447421	chr5:46166640-46166641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562896762	chr5:46166645-46166646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573577921	chr5:46166708-46166709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542672514	chr5:46166726-46166727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs559167785	chr5:46166731-46166732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139885574	chr5:46166739-46166740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549234250	chr5:46166761-46166762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551599638	chr5:46166794-46166795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565117224	chr5:46166796-46166797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185739974	chr5:46166807-46166808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530785859	chr5:46166821-46166822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550900673	chr5:46166844-46166845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546930177	chr5:46166849-46166850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565135434	chr5:46166870-46166871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532809517	chr5:46166916-46166917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570007864	chr5:46166946-46166947	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:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46160400-46162000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:46166600-46171400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:46166800-46170800	ZNF genes & repeats	Liver	Liver
4	chr5:46167200-46169200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr5:46167400-46169800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr5:46167400-46171200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr5:46168600-46169400	ZNF genes & repeats	Brain Anterior Caudate	brain
8	chr5:46168800-46169000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:46168800-46169000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr5:46168800-46169000	ZNF genes & repeats	HUVEC	blood vessel
11	chr5:46168800-46169000	Enhancers	K562	blood
12	chr5:46168800-46169200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr5:46172600-46176400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:46173800-46181000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr5:46174200-46174400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr5:46174200-46174600	Active TSS	Aorta	Aorta
17	chr5:46174600-46176600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr5:46176000-46176400	Active TSS	Fetal Heart	heart
19	chr5:46177600-46179200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr5:46179400-46181600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr5:46179400-46190000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:46180400-46181200	ZNF genes & repeats	Liver	Liver
23	chr5:46183000-46187800	ZNF genes & repeats	Liver	Liver
24	chr5:46184000-46185400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr5:46184400-46186600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr5:46184400-46193800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr5:46184800-46185000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr5:46184800-46188200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:46189400-46193000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr5:46200200-46203400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:46205600-46206600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr5:46208000-46210400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:46208600-46211000	ZNF genes & repeats	Liver	Liver
34	chr5:46210400-46211200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr5:46212200-46216200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr5:46214400-46232200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:46218000-46218200	ZNF genes & repeats	HepG2	liver
38	chr5:46218000-46221400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr5:46219200-46220600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr5:46220000-46223800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr5:46220800-46223600	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr5:46220800-46224000	ZNF genes & repeats	Liver	Liver
43	chr5:46221600-46224000	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr5:46228600-46233000	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr5:46228800-46233200	ZNF genes & repeats	Liver	Liver
46	chr5:46229000-46233200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr5:46229200-46232000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr5:46229600-46232400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr5:46232800-46233600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:46233800-46238400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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