Variant report

Variant	esv3495111
Chromosome Location	chr1:189228344-189253001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:
2	chr1:189248572..189251429-chr1:189254137..189256255,2	MCF-7	breast:
3	chr1:189249441..189251122-chr1:189253559..189256297,2	K562	blood:
4	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:
5	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
6	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
7	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:
8	chr1:188973723..188976058-chr1:189233583..189235147,2	K562	blood:

No data

Extended variants
information (count: 84 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191647555	chr1:189237006-189237007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs144815833	chr1:189237049-189237050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184190066	chr1:189237082-189237083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556485699	chr1:189237122-189237123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576295423	chr1:189237140-189237141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541790016	chr1:189237167-189237168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545212250	chr1:189237187-189237188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574286958	chr1:189237206-189237207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs1578704	chr1:189237212-189237213	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572025560	chr1:189237249-189237250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs189061624	chr1:189237257-189237258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563841955	chr1:189237276-189237277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs1578705	chr1:189237277-189237278	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543650387	chr1:189237299-189237300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs1578706	chr1:189237363-189237364	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148511147	chr1:189237392-189237393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560906349	chr1:189237393-189237394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs181728813	chr1:189237401-189237402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527966876	chr1:189237410-189237411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528495508	chr1:189237443-189237444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551898961	chr1:189237451-189237452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571808481	chr1:189237457-189237458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145333408	chr1:189237475-189237476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531196485	chr1:189237479-189237480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11801777	chr1:189237480-189237481	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569855648	chr1:189237515-189237516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535355614	chr1:189237517-189237518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114893170	chr1:189237519-189237520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571661338	chr1:189237523-189237524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185598691	chr1:189237542-189237543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565436926	chr1:189237581-189237582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190271528	chr1:189237609-189237610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577346416	chr1:189237634-189237635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147698513	chr1:189237676-189237677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532708131	chr1:189237700-189237701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182446008	chr1:189237719-189237720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12057910	chr1:189237729-189237730	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563696328	chr1:189237749-189237750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77019374	chr1:189237817-189237818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185785571	chr1:189237820-189237821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536367904	chr1:189237831-189237832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560039452	chr1:189237838-189237839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371671382	chr1:189237846-189237847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565936781	chr1:189237849-189237850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530098726	chr1:189237864-189237865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528483250	chr1:189237887-189237888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140843088	chr1:189237904-189237905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1418546	chr1:189237907-189237908	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189718385	chr1:189237924-189237925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551072880	chr1:189237977-189237978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189237000-189237200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr1:189237000-189237400	ZNF genes & repeats	Liver	Liver
3	chr1:189237200-189237800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr1:189237200-189238800	ZNF genes & repeats	Adipose Nuclei	Adipose

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