Variant report

Variant	nsv462152
Chromosome Location	chr5:46048668-46265302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 11974 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:11974 , 50 per page) page: 1 2 3 4 5 6 7 ... 240

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374104697	chr5:46048801-46048802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs188675637	chr5:46048803-46048804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111632107	chr5:46048804-46048805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs193270617	chr5:46048805-46048806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs78181073	chr5:46048807-46048808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146107150	chr5:46048819-46048820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs78852277	chr5:46048847-46048848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572083638	chr5:46048855-46048856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540532846	chr5:46048857-46048858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4484447	chr5:46048859-46048860	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs376378880	chr5:46048870-46048871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532362821	chr5:46048878-46048879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552081532	chr5:46048901-46048902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185698951	chr5:46048908-46048909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531443453	chr5:46048916-46048917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548260153	chr5:46048920-46048921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568078691	chr5:46048950-46048951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140020072	chr5:46048962-46048963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531388533	chr5:46048970-46048971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548099843	chr5:46048975-46048976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570612898	chr5:46048989-46048990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs72754033	chr5:46048991-46048992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75287680	chr5:46048992-46048993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556350623	chr5:46048998-46048999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569871216	chr5:46049006-46049007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535579315	chr5:46049021-46049022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201744712	chr5:46049043-46049044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556219968	chr5:46049051-46049052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs4613722	chr5:46049072-46049073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572435970	chr5:46049075-46049076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs192390842	chr5:46049095-46049096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527345806	chr5:46049109-46049110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541042273	chr5:46049127-46049128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372648184	chr5:46049136-46049137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs141966750	chr5:46049137-46049138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111664674	chr5:46049172-46049173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546036848	chr5:46049173-46049174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562675334	chr5:46049191-46049192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568290372	chr5:46049192-46049193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531506645	chr5:46049208-46049209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541980871	chr5:46049259-46049260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561745799	chr5:46049269-46049270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535937367	chr5:46049290-46049291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553941679	chr5:46049312-46049313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs187448833	chr5:46049317-46049318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547069918	chr5:46049319-46049320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192341465	chr5:46049323-46049324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111732988	chr5:46049337-46049338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112432991	chr5:46049349-46049350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188715170	chr5:46049350-46049351	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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46048800-46067200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46050000-46062400	ZNF genes & repeats	Liver	Liver
3	chr5:46050800-46056000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:46053000-46053600	Active TSS	Right Atrium	heart
5	chr5:46058800-46064400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr5:46061200-46064200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr5:46066200-46067200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr5:46067800-46073000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr5:46068400-46069600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:46068400-46069800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr5:46071000-46082400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:46071600-46075400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr5:46073400-46075800	ZNF genes & repeats	Liver	Liver
14	chr5:46075600-46077000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:46077000-46079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr5:46081600-46082600	Active TSS	Fetal Heart	heart
17	chr5:46083400-46093800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:46083600-46093600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr5:46083800-46084600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr5:46084000-46085200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:46089200-46090400	Active TSS	Aorta	Aorta
22	chr5:46090600-46093600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr5:46091200-46093400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr5:46093800-46096600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr5:46099600-46101800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:46109600-46110000	Active TSS	Fetal Heart	heart
27	chr5:46113800-46114400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr5:46116400-46118000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:46118800-46127400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:46120200-46123000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr5:46121400-46124000	ZNF genes & repeats	Liver	Liver
32	chr5:46127800-46129400	ZNF genes & repeats	Liver	Liver
33	chr5:46129000-46129400	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr5:46130800-46131600	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr5:46131000-46131600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:46138600-46140600	ZNF genes & repeats	Liver	Liver
37	chr5:46140800-46144000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr5:46146200-46152200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:46146400-46148800	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr5:46147800-46151200	ZNF genes & repeats	Liver	Liver
41	chr5:46148400-46152000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr5:46149800-46150200	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr5:46150600-46152000	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr5:46152600-46154000	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr5:46153200-46154000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:46160400-46162000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr5:46166600-46171400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:46166800-46170800	ZNF genes & repeats	Liver	Liver
49	chr5:46167200-46169200	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr5:46167400-46169800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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