Variant report

Variant	nsv1029954
Chromosome Location	chr5:46326176-46389261
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	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
2	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 8227 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:8227 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528183585	chr5:46326181-46326182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544913489	chr5:46326189-46326190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35088597	chr5:46326228-46326229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544897865	chr5:46326231-46326232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373880304	chr5:46326232-46326233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565074855	chr5:46326241-46326242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530853030	chr5:46326246-46326247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550866054	chr5:46326248-46326249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570080280	chr5:46326251-46326252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529264628	chr5:46326253-46326254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549460277	chr5:46326256-46326257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200116179	chr5:46326272-46326273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566089768	chr5:46326277-46326278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111900169	chr5:46326280-46326281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372504313	chr5:46326285-46326286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376376286	chr5:46326295-46326296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369985356	chr5:46326300-46326301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374422317	chr5:46326303-46326304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377130304	chr5:46326313-46326314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368497902	chr5:46326321-46326322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372935028	chr5:46326329-46326330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376567763	chr5:46326330-46326331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368810647	chr5:46326335-46326336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372753249	chr5:46326338-46326339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376184411	chr5:46326344-46326345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112642382	chr5:46326352-46326353	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558104182	chr5:46326359-46326360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201023275	chr5:46326360-46326361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571488052	chr5:46326367-46326368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373594048	chr5:46326368-46326369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201703948	chr5:46326371-46326372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371014634	chr5:46326373-46326374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369552189	chr5:46326374-46326375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373444412	chr5:46326390-46326391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200009358	chr5:46326407-46326408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150480505	chr5:46326426-46326427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146346243	chr5:46326428-46326429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527625822	chr5:46326433-46326434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62389933	chr5:46326446-46326447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573302946	chr5:46326460-46326461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202236032	chr5:46326463-46326464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111357488	chr5:46326469-46326470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542258862	chr5:46326478-46326479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201506870	chr5:46326483-46326484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367702868	chr5:46326485-46326486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370446608	chr5:46326489-46326490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371424656	chr5:46326490-46326491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552922350	chr5:46326491-46326492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145265970	chr5:46326503-46326504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369957335	chr5:46326506-46326507	ZNF genes & repeats Weak transcription	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
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:46320200-46328000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:46321600-46328800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46321600-46330400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr5:46325400-46327800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:46325600-46326400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:46325600-46327400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr5:46325800-46326200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:46325800-46327000	ZNF genes & repeats	Brain Substantia Nigra	brain
11	chr5:46325800-46327000	ZNF genes & repeats	Colon Smooth Muscle	Colon
12	chr5:46325800-46327200	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr5:46326000-46326800	Weak transcription	Right Atrium	heart
14	chr5:46326400-46327200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr5:46326600-46327000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:46326600-46327000	Active TSS	Aorta	Aorta
17	chr5:46326600-46327200	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr5:46326800-46327200	Active TSS	Right Atrium	heart
19	chr5:46327200-46329800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:46327200-46329800	Weak transcription	Psoas Muscle	Psoas
21	chr5:46328000-46336200	Weak transcription	K562	blood
22	chr5:46328200-46329600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:46329400-46333000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr5:46329800-46330200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:46329800-46330200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:46329800-46330200	Active TSS	Aorta	Aorta
27	chr5:46329800-46330200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr5:46329800-46330200	ZNF genes & repeats	Colonic Mucosa	Colon
29	chr5:46329800-46330200	Active TSS	Psoas Muscle	Psoas
30	chr5:46329800-46332800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:46330200-46330600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:46330200-46336200	Weak transcription	Aorta	Aorta
33	chr5:46334000-46335000	ZNF genes & repeats	HUVEC	blood vessel
34	chr5:46334200-46341800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:46334400-46341400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr5:46334600-46335000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
37	chr5:46334600-46336800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:46334600-46337400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr5:46334600-46337600	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr5:46334800-46335000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:46334800-46335000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
42	chr5:46334800-46335000	ZNF genes & repeats	Thymus	Thymus
43	chr5:46334800-46335200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr5:46334800-46335200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr5:46334800-46336800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:46335000-46336200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:46335000-46336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:46335000-46336200	Weak transcription	Thymus	Thymus
49	chr5:46335000-46336200	Weak transcription	HUVEC	blood vessel
50	chr5:46335200-46336200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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