Variant report

Variant	nsv1020738
Chromosome Location	chr5:46096508-46250672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 7445 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:7445 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554959705	chr5:46096512-46096513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568773215	chr5:46096520-46096521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536402229	chr5:46096526-46096527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533751815	chr5:46096570-46096571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373051499	chr5:46096581-46096582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566769845	chr5:46099610-46099611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540281248	chr5:46099613-46099614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73095350	chr5:46099619-46099620	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79676781	chr5:46099628-46099629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138611961	chr5:46099629-46099630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530798671	chr5:46099635-46099636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550983277	chr5:46099670-46099671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114253590	chr5:46099673-46099674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149375998	chr5:46099682-46099683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546751371	chr5:46099696-46099697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566727171	chr5:46099753-46099754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs13175755	chr5:46099780-46099781	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552584539	chr5:46099781-46099782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372981010	chr5:46099783-46099784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569568054	chr5:46099786-46099787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562752651	chr5:46099787-46099788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190597259	chr5:46099788-46099789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554624376	chr5:46099826-46099827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144734016	chr5:46099835-46099836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530041983	chr5:46099848-46099849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34572752	chr5:46099860-46099861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533880212	chr5:46099868-46099869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553960779	chr5:46099913-46099914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182943757	chr5:46099922-46099923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546016040	chr5:46099933-46099934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548397648	chr5:46099941-46099942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566634010	chr5:46099955-46099956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376737139	chr5:46099956-46099957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148075621	chr5:46099968-46099969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544246571	chr5:46099969-46099970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377151184	chr5:46099977-46099978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571619284	chr5:46100012-46100013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530089457	chr5:46100021-46100022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142777550	chr5:46100022-46100023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112747457	chr5:46100046-46100047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187055661	chr5:46100055-46100056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552765349	chr5:46100058-46100059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79875500	chr5:46100099-46100100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527487398	chr5:46100106-46100107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534930600	chr5:46100113-46100114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548165103	chr5:46100115-46100116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374075671	chr5:46100143-46100144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146143755	chr5:46100154-46100155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552615579	chr5:46100162-46100163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553890782	chr5:46100164-46100165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46093800-46096600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr5:46099600-46101800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:46109600-46110000	Active TSS	Fetal Heart	heart
4	chr5:46113800-46114400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:46116400-46118000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr5:46118800-46127400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:46120200-46123000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr5:46121400-46124000	ZNF genes & repeats	Liver	Liver
9	chr5:46127800-46129400	ZNF genes & repeats	Liver	Liver
10	chr5:46129000-46129400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr5:46130800-46131600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr5:46131000-46131600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:46138600-46140600	ZNF genes & repeats	Liver	Liver
14	chr5:46140800-46144000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:46146200-46152200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:46146400-46148800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr5:46147800-46151200	ZNF genes & repeats	Liver	Liver
18	chr5:46148400-46152000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr5:46149800-46150200	ZNF genes & repeats	Psoas Muscle	Psoas
20	chr5:46150600-46152000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:46152600-46154000	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr5:46153200-46154000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:46160400-46162000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr5:46166600-46171400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:46166800-46170800	ZNF genes & repeats	Liver	Liver
26	chr5:46167200-46169200	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr5:46167400-46169800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr5:46167400-46171200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr5:46168600-46169400	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr5:46168800-46169000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:46168800-46169000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr5:46168800-46169000	ZNF genes & repeats	HUVEC	blood vessel
33	chr5:46168800-46169000	Enhancers	K562	blood
34	chr5:46168800-46169200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr5:46172600-46176400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:46173800-46181000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr5:46174200-46174400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr5:46174200-46174600	Active TSS	Aorta	Aorta
39	chr5:46174600-46176600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr5:46176000-46176400	Active TSS	Fetal Heart	heart
41	chr5:46177600-46179200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr5:46179400-46181600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr5:46179400-46190000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:46180400-46181200	ZNF genes & repeats	Liver	Liver
45	chr5:46183000-46187800	ZNF genes & repeats	Liver	Liver
46	chr5:46184000-46185400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr5:46184400-46186600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr5:46184400-46193800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:46184800-46185000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr5:46184800-46188200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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