Variant report

Variant	nsv526696
Chromosome Location	chr5:45892788-46348483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:
2	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
3	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
4	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 25909 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:25909 , 50 per page) page: 1 2 3 4 5 6 7 ... 519

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191170300	chr5:45905412-45905413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545028442	chr5:45905417-45905418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183404663	chr5:45905422-45905423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186540042	chr5:45905425-45905426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs543673108	chr5:45905435-45905436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563338848	chr5:45905468-45905469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529042611	chr5:45905473-45905474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548148353	chr5:45905512-45905513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542445824	chr5:45905557-45905558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191364032	chr5:45905569-45905570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147274239	chr5:45905578-45905579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183067786	chr5:45905586-45905587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576452703	chr5:45905614-45905615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571237416	chr5:45905618-45905619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369557943	chr5:45905627-45905628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373754871	chr5:45905631-45905632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114249687	chr5:45905640-45905641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369776319	chr5:45905650-45905651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567855231	chr5:45905675-45905676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140859213	chr5:45905689-45905690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114606713	chr5:45905707-45905708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565640670	chr5:45905719-45905720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566658925	chr5:45905737-45905738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538711225	chr5:45905751-45905752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187785682	chr5:45905757-45905758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575193769	chr5:45905783-45905784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs539479772	chr5:45905784-45905785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536953731	chr5:45905805-45905806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs149349511	chr5:45905807-45905808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573847760	chr5:45905815-45905816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542844569	chr5:45905860-45905861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559557996	chr5:45905892-45905893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs193291015	chr5:45905951-45905952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545079736	chr5:45905976-45905977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564885245	chr5:45905980-45905981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530569340	chr5:45905981-45905982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs35503349	chr5:45905992-45905993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs6862657	chr5:45905997-45905998	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561653594	chr5:45906012-45906013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530312754	chr5:45906038-45906039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546804897	chr5:45906039-45906040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs185145017	chr5:45906054-45906055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538749651	chr5:45906057-45906058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552210700	chr5:45906062-45906063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188783784	chr5:45906069-45906070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370507899	chr5:45906087-45906088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554641135	chr5:45906090-45906091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573897553	chr5:45906095-45906096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552592725	chr5:45906096-45906097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112706383	chr5:45906099-45906100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Breast cancer	17133270	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
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45905400-45914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45911400-45912000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr5:45911400-45912600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
5	chr5:45914200-45916000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
20	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr5:45954800-45955400	Active TSS	Right Atrium	heart
27	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
30	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
36	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver

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