Variant report

Variant	nsv1029514
Chromosome Location	chr5:46246501-46389261
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	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
2	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 13190 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:13190 , 50 per page) page: 1 2 3 4 5 6 7 ... 264

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113610695	chr5:46246510-46246511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113490909	chr5:46246515-46246516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182006751	chr5:46246528-46246529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144344708	chr5:46246544-46246545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573639823	chr5:46246570-46246571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541043433	chr5:46246597-46246598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374564802	chr5:46246598-46246599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559660303	chr5:46246640-46246641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139165622	chr5:46246641-46246642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563914583	chr5:46246650-46246651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113120205	chr5:46246658-46246659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533295389	chr5:46246671-46246672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529603215	chr5:46246683-46246684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549743582	chr5:46246700-46246701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551540178	chr5:46246701-46246702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565658904	chr5:46246706-46246707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563380779	chr5:46246720-46246721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187614462	chr5:46246740-46246741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535982054	chr5:46246741-46246742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs142431843	chr5:46246750-46246751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571227096	chr5:46246762-46246763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145979511	chr5:46246764-46246765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368025131	chr5:46246766-46246767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556839328	chr5:46246775-46246776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74935099	chr5:46246782-46246783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536140288	chr5:46246792-46246793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139807396	chr5:46246795-46246796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552881829	chr5:46246844-46246845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35856999	chr5:46246854-46246855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147911043	chr5:46246855-46246856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572814111	chr5:46246899-46246900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541036280	chr5:46246921-46246922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143214469	chr5:46246930-46246931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs578003658	chr5:46246953-46246954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543935067	chr5:46246958-46246959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563868193	chr5:46246959-46246960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs10473416	chr5:46246970-46246971	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs543328663	chr5:46246979-46246980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560054735	chr5:46246989-46246990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs8188098	chr5:46247000-46247001	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191850828	chr5:46248819-46248820	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574808481	chr5:46248852-46248853	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535951568	chr5:46248865-46248866	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34399231	chr5:46248881-46248882	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553492196	chr5:46248891-46248892	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148156900	chr5:46248906-46248907	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141108213	chr5:46248919-46248920	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75177622	chr5:46248925-46248926	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368220888	chr5:46248980-46248981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531566752	chr5:46248981-46248982	ZNF genes & repeats Active TSS	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
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46241800-46246600	ZNF genes & repeats	Liver	Liver
2	chr5:46245800-46246600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr5:46246000-46247000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:46246400-46246800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:46248800-46249000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr5:46248800-46249200	Active TSS	Right Atrium	heart
7	chr5:46248800-46259400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:46253800-46261000	ZNF genes & repeats	Liver	Liver
9	chr5:46259600-46260800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:46263200-46264800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr5:46266000-46268200	ZNF genes & repeats	Liver	Liver
12	chr5:46266200-46266600	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr5:46266200-46269400	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:46266200-46270400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:46268400-46269200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:46269600-46270200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr5:46276600-46282600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr5:46278600-46281200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr5:46279400-46283000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr5:46279600-46285000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:46280000-46280800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:46280200-46280600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr5:46281400-46284600	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr5:46283200-46285000	ZNF genes & repeats	Liver	Liver
25	chr5:46288000-46291400	ZNF genes & repeats	Liver	Liver
26	chr5:46289400-46304600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:46290200-46290600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr5:46292200-46293200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr5:46294200-46300400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr5:46295000-46302000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr5:46295200-46300200	ZNF genes & repeats	Liver	Liver
32	chr5:46299000-46299800	ZNF genes & repeats	Psoas Muscle	Psoas
33	chr5:46299400-46299600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr5:46305400-46307000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:46305400-46307800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:46306800-46309200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr5:46308600-46311200	ZNF genes & repeats	Liver	Liver
38	chr5:46309400-46313400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:46318000-46318400	Weak transcription	Liver	Liver
40	chr5:46318400-46318800	Active TSS	Fetal Heart	heart
41	chr5:46318400-46319800	ZNF genes & repeats	Liver	Liver
42	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr5:46320200-46328000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:46320600-46323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:46321600-46328800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr5:46321600-46330400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr5:46321800-46322200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:46321800-46322400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:46321800-46322400	ZNF genes & repeats	Left Ventricle	heart
50	chr5:46321800-46322600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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