Variant report

Variant	nsv1023719
Chromosome Location	chr5:45953688-46246648
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	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
3	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:

Extended variants
information (count: 15809 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:15809 , 50 per page) page: 1 2 3 4 5 6 7 ... 317

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529642183	chr5:45953710-45953711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367611829	chr5:45953718-45953719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73101814	chr5:45953738-45953739	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs80016080	chr5:45953764-45953765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548196259	chr5:45953768-45953769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79187621	chr5:45953815-45953816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs74959613	chr5:45953818-45953819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569039006	chr5:45953834-45953835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537632004	chr5:45953848-45953849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs548296510	chr5:45953867-45953868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372306731	chr5:45953883-45953884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568060982	chr5:45953885-45953886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566366548	chr5:45953893-45953894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533827743	chr5:45953897-45953898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143918743	chr5:45953915-45953916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370708467	chr5:45953938-45953939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149174224	chr5:45953939-45953940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148072311	chr5:45953940-45953941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375086767	chr5:45953941-45953942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111359230	chr5:45953943-45953944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142201587	chr5:45953948-45953949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112582562	chr5:45953950-45953951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376810451	chr5:45953954-45953955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144729541	chr5:45953958-45953959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113295944	chr5:45953961-45953962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62372038	chr5:45953965-45953966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113136469	chr5:45953969-45953970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553303081	chr5:45953975-45953976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140012530	chr5:45953979-45953980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146449587	chr5:45953989-45953990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577139192	chr5:45953990-45953991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62372039	chr5:45953994-45953995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200790300	chr5:45953995-45953996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539707823	chr5:45954003-45954004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190252062	chr5:45954004-45954005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556422588	chr5:45954016-45954017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576603813	chr5:45954017-45954018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542054889	chr5:45954018-45954019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs62372040	chr5:45954028-45954029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371467771	chr5:45954032-45954033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373012238	chr5:45954042-45954043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376256794	chr5:45954048-45954049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558439679	chr5:45954055-45954056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4441884	chr5:45954056-45954057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148122702	chr5:45954061-45954062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368911913	chr5:45954062-45954063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs532465363	chr5:45954066-45954067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371762713	chr5:45954080-45954081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552542479	chr5:45954086-45954087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs199820070	chr5:45954092-45954093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:45954800-45955400	Active TSS	Right Atrium	heart
5	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
8	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
14	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
29	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:45994000-45994600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:45994200-45997200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr5:45997400-45997600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:45998800-45999600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr5:46010200-46013000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr5:46010600-46014400	ZNF genes & repeats	Liver	Liver
36	chr5:46011800-46016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:46014000-46019000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr5:46016600-46020200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr5:46017400-46018800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr5:46018000-46028600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:46018200-46021800	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr5:46019000-46022600	ZNF genes & repeats	Liver	Liver
43	chr5:46021600-46022000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:46022600-46024000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr5:46027600-46028000	Active TSS	Fetal Heart	heart
46	chr5:46030000-46030600	Active TSS	Fetal Heart	heart
47	chr5:46033200-46038200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:46033800-46034600	ZNF genes & repeats	Liver	Liver
49	chr5:46035200-46036000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:46039000-46039800	ZNF genes & repeats	Liver	Liver

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