Variant report

Variant	esv3527377
Chromosome Location	chr5:46355344-46360092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 620 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190510579	chr5:46355346-46355347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575956210	chr5:46355357-46355358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201565082	chr5:46355360-46355361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535380930	chr5:46355377-46355378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62388188	chr5:46355386-46355387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368830068	chr5:46355391-46355392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555520478	chr5:46355393-46355394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62388189	chr5:46355394-46355395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541110525	chr5:46355396-46355397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200333285	chr5:46355399-46355400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201554743	chr5:46355405-46355406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570568995	chr5:46355411-46355412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577761479	chr5:46355421-46355422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62388190	chr5:46355427-46355428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111892446	chr5:46355437-46355438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112592872	chr5:46355442-46355443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538003440	chr5:46355450-46355451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113782989	chr5:46355452-46355453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375323728	chr5:46355457-46355458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200805570	chr5:46355461-46355462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111409312	chr5:46355468-46355469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201256454	chr5:46355473-46355474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79565944	chr5:46355475-46355476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543363937	chr5:46355493-46355494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199626347	chr5:46355515-46355516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563555177	chr5:46355530-46355531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535539377	chr5:46355541-46355542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137967536	chr5:46355555-46355556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10058065	chr5:46355567-46355568	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs193276963	chr5:46355570-46355571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572081822	chr5:46355574-46355575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561731164	chr5:46355578-46355579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201854101	chr5:46355593-46355594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200210745	chr5:46355597-46355598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527809859	chr5:46355600-46355601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546106581	chr5:46355609-46355610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547484597	chr5:46355623-46355624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570996898	chr5:46355633-46355634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116024978	chr5:46355663-46355664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550210394	chr5:46355664-46355665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115585753	chr5:46355668-46355669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112375046	chr5:46355671-46355672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555433092	chr5:46355681-46355682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150528102	chr5:46355682-46355683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113082858	chr5:46355691-46355692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558391311	chr5:46355693-46355694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111851636	chr5:46355697-46355698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112901862	chr5:46355707-46355708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201464190	chr5:46355710-46355711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113446723	chr5:46355712-46355713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46343200-46371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46343400-46370200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:46344200-46371400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46345400-46356200	Weak transcription	K562	blood
5	chr5:46351600-46368400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr5:46355000-46356600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:46355200-46367800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr5:46355600-46356800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr5:46355800-46356800	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr5:46356000-46356800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:46356000-46357000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr5:46356000-46357000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
13	chr5:46356000-46357200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr5:46356200-46356800	ZNF genes & repeats	K562	blood
15	chr5:46356200-46357000	ZNF genes & repeats	Liver	Liver
16	chr5:46356200-46360000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr5:46356200-46365000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr5:46356400-46356600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:46356400-46356600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr5:46356400-46356600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
21	chr5:46356400-46356600	ZNF genes & repeats	Colonic Mucosa	Colon
22	chr5:46356400-46356600	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr5:46356400-46356600	ZNF genes & repeats	Left Ventricle	heart
24	chr5:46356400-46356800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:46356400-46356800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr5:46356400-46356800	Active TSS	Aorta	Aorta
27	chr5:46356400-46356800	ZNF genes & repeats	Gastric	stomach
28	chr5:46356400-46356800	Active TSS	Psoas Muscle	Psoas
29	chr5:46356400-46356800	ZNF genes & repeats	HUVEC	blood vessel
30	chr5:46356400-46356800	ZNF genes & repeats	NH-A	brain
31	chr5:46356600-46359400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:46356800-46357800	Weak transcription	HUVEC	blood vessel
33	chr5:46356800-46358400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:46356800-46359400	Weak transcription	K562	blood
35	chr5:46357000-46359200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:46357800-46358200	ZNF genes & repeats	Liver	Liver
37	chr5:46357800-46358200	ZNF genes & repeats	HUVEC	blood vessel
38	chr5:46358200-46359400	Weak transcription	HUVEC	blood vessel
39	chr5:46358200-46360000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:46359000-46361400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr5:46359200-46360000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr5:46359200-46360200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
43	chr5:46359200-46360400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr5:46359200-46364800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr5:46359400-46359600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr5:46359400-46359800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:46359400-46359800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr5:46359400-46359800	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr5:46359400-46359800	ZNF genes & repeats	HSMMtube	muscle
50	chr5:46359400-46359800	ZNF genes & repeats	K562	blood

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