Variant report

Variant	nsv1018733
Chromosome Location	chr5:46136820-46389261
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	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
3	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
4	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 19110 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:19110 , 50 per page) page: 1 2 3 4 5 6 7 ... 383

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571680122	chr5:46138620-46138621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143252694	chr5:46138622-46138623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7715275	chr5:46138635-46138636	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567779085	chr5:46138665-46138666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536408122	chr5:46138687-46138688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs151322245	chr5:46138698-46138699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113051377	chr5:46138713-46138714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573410576	chr5:46138714-46138715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538954421	chr5:46138721-46138722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181461587	chr5:46138725-46138726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574891045	chr5:46138751-46138752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530120238	chr5:46138766-46138767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543834049	chr5:46138777-46138778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548583591	chr5:46138785-46138786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs566850403	chr5:46138799-46138800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111599891	chr5:46138830-46138831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574491721	chr5:46138852-46138853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548972083	chr5:46138853-46138854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540026949	chr5:46138860-46138861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560300190	chr5:46138870-46138871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371207107	chr5:46138871-46138872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532269211	chr5:46138881-46138882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546113200	chr5:46138889-46138890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184886675	chr5:46138892-46138893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147088186	chr5:46138981-46138982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375804323	chr5:46138982-46138983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557730248	chr5:46139027-46139028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567623857	chr5:46139031-46139032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116280054	chr5:46139053-46139054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138480350	chr5:46139065-46139066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369228685	chr5:46139093-46139094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189746350	chr5:46139123-46139124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs558803103	chr5:46139134-46139135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs570715206	chr5:46139153-46139154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375998609	chr5:46139187-46139188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554573165	chr5:46139207-46139208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538327381	chr5:46139254-46139255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183112980	chr5:46139294-46139295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539245921	chr5:46139317-46139318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577087688	chr5:46139324-46139325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546052390	chr5:46139325-46139326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs199508366	chr5:46139356-46139357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369356804	chr5:46139363-46139364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575117629	chr5:46139387-46139388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531659048	chr5:46139393-46139394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187840646	chr5:46139394-46139395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542637949	chr5:46139403-46139404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561342632	chr5:46139422-46139423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530079807	chr5:46139430-46139431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575909497	chr5:46139451-46139452	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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46138600-46140600	ZNF genes & repeats	Liver	Liver
2	chr5:46140800-46144000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:46146200-46152200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:46146400-46148800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr5:46147800-46151200	ZNF genes & repeats	Liver	Liver
6	chr5:46148400-46152000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr5:46149800-46150200	ZNF genes & repeats	Psoas Muscle	Psoas
8	chr5:46150600-46152000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr5:46152600-46154000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:46153200-46154000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:46160400-46162000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:46166600-46171400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:46166800-46170800	ZNF genes & repeats	Liver	Liver
14	chr5:46167200-46169200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr5:46167400-46169800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr5:46167400-46171200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr5:46168600-46169400	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr5:46168800-46169000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:46168800-46169000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr5:46168800-46169000	ZNF genes & repeats	HUVEC	blood vessel
21	chr5:46168800-46169000	Enhancers	K562	blood
22	chr5:46168800-46169200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr5:46172600-46176400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:46173800-46181000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr5:46174200-46174400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr5:46174200-46174600	Active TSS	Aorta	Aorta
27	chr5:46174600-46176600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr5:46176000-46176400	Active TSS	Fetal Heart	heart
29	chr5:46177600-46179200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr5:46179400-46181600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr5:46179400-46190000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:46180400-46181200	ZNF genes & repeats	Liver	Liver
33	chr5:46183000-46187800	ZNF genes & repeats	Liver	Liver
34	chr5:46184000-46185400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr5:46184400-46186600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr5:46184400-46193800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr5:46184800-46185000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr5:46184800-46188200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:46189400-46193000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr5:46200200-46203400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:46205600-46206600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr5:46208000-46210400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr5:46208600-46211000	ZNF genes & repeats	Liver	Liver
44	chr5:46210400-46211200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr5:46212200-46216200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr5:46214400-46232200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:46218000-46218200	ZNF genes & repeats	HepG2	liver
48	chr5:46218000-46221400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr5:46219200-46220600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:46220000-46223800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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