Variant report

Variant	nsv598083
Chromosome Location	chr5:46276787-46399274
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	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:
2	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:

Extended variants
information (count: 13086 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:13086 , 50 per page) page: 1 2 3 4 5 6 7 ... 262

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35993179	chr5:46276787-46276788	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113561620	chr5:46276796-46276797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368691627	chr5:46276822-46276823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184669431	chr5:46276843-46276844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140104971	chr5:46276849-46276850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs188592690	chr5:46276861-46276862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545056987	chr5:46276868-46276869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150364133	chr5:46276876-46276877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577136833	chr5:46276878-46276879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562197358	chr5:46276880-46276881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199564764	chr5:46276882-46276883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74219154	chr5:46276905-46276906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527864367	chr5:46276937-46276938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191685933	chr5:46276952-46276953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62372595	chr5:46276962-46276963	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184236796	chr5:46276988-46276989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550453864	chr5:46277017-46277018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569283086	chr5:46277025-46277026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369393900	chr5:46277033-46277034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145141132	chr5:46277036-46277037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188123313	chr5:46277053-46277054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565469235	chr5:46277071-46277072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373247597	chr5:46277075-46277076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548991484	chr5:46277102-46277103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557624916	chr5:46277107-46277108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs180865977	chr5:46277114-46277115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201890068	chr5:46277167-46277168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536917384	chr5:46277171-46277172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561409617	chr5:46277210-46277211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528824087	chr5:46277231-46277232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149083692	chr5:46277234-46277235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542270669	chr5:46277245-46277246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546877823	chr5:46277258-46277259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565418447	chr5:46277269-46277270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs35542852	chr5:46277282-46277283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs397883792	chr5:46277287-46277288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571768641	chr5:46277289-46277290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541523691	chr5:46277291-46277292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552172792	chr5:46277301-46277302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115952146	chr5:46277302-46277303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187375145	chr5:46277303-46277304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs114275550	chr5:46277307-46277308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376412024	chr5:46277317-46277318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34656837	chr5:46277318-46277319	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548618224	chr5:46277338-46277339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190546449	chr5:46277365-46277366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75267981	chr5:46277414-46277415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76194730	chr5:46277421-46277422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530392386	chr5:46277428-46277429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551474524	chr5:46277441-46277442	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
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46276600-46282600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:46278600-46281200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr5:46279400-46283000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46279600-46285000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:46280000-46280800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:46280200-46280600	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr5:46281400-46284600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr5:46283200-46285000	ZNF genes & repeats	Liver	Liver
9	chr5:46288000-46291400	ZNF genes & repeats	Liver	Liver
10	chr5:46289400-46304600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:46290200-46290600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr5:46292200-46293200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:46294200-46300400	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:46295000-46302000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:46295200-46300200	ZNF genes & repeats	Liver	Liver
16	chr5:46299000-46299800	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr5:46299400-46299600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr5:46305400-46307000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr5:46305400-46307800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:46306800-46309200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr5:46308600-46311200	ZNF genes & repeats	Liver	Liver
22	chr5:46309400-46313400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:46318000-46318400	Weak transcription	Liver	Liver
24	chr5:46318400-46318800	Active TSS	Fetal Heart	heart
25	chr5:46318400-46319800	ZNF genes & repeats	Liver	Liver
26	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr5:46320200-46328000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:46320600-46323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:46321600-46328800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr5:46321600-46330400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr5:46321800-46322200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:46321800-46322400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:46321800-46322400	ZNF genes & repeats	Left Ventricle	heart
34	chr5:46321800-46322600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr5:46322000-46322200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr5:46322000-46322200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr5:46322000-46322400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:46322000-46322400	ZNF genes & repeats	Fetal Heart	heart
39	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr5:46323800-46324000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
41	chr5:46324000-46325800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:46324600-46325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:46325400-46327800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:46325600-46326000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:46325600-46326000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:46325600-46326000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr5:46325600-46326400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:46325600-46327400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr5:46325800-46326000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr5:46325800-46326000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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