Variant report

Variant	nsv947348
Chromosome Location	chr1:189173663-189183418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
2	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
3	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
4	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376193973	chr1:189174213-189174214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150939662	chr1:189174234-189174235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542861007	chr1:189174379-189174380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76751535	chr1:189174387-189174388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189483863	chr1:189174391-189174392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545045689	chr1:189174394-189174395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79247540	chr1:189174402-189174403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530617024	chr1:189174412-189174413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10158045	chr1:189174421-189174422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs180803766	chr1:189174448-189174449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530232050	chr1:189174449-189174450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184588608	chr1:189174458-189174459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189255041	chr1:189174482-189174483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61250043	chr1:189174488-189174489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150126046	chr1:189174535-189174536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111762416	chr1:189174544-189174545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112922006	chr1:189174596-189174597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569191230	chr1:189174600-189174601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545369725	chr1:189174612-189174613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76253948	chr1:189174620-189174621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34089278	chr1:189174677-189174678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181130536	chr1:189174700-189174701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573740228	chr1:189174710-189174711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376341401	chr1:189174719-189174720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546986101	chr1:189174753-189174754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542860013	chr1:189174760-189174761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553275670	chr1:189174772-189174773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138422387	chr1:189174778-189174779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72733838	chr1:189174788-189174789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201214842	chr1:189174797-189174798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147081615	chr1:189175032-189175033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534463603	chr1:189175065-189175066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560339247	chr1:189175080-189175081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138462299	chr1:189175082-189175083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144133179	chr1:189175090-189175091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144385500	chr1:189175093-189175094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537863012	chr1:189175104-189175105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548631328	chr1:189175155-189175156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148729925	chr1:189175167-189175168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534316971	chr1:189175172-189175173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553191557	chr1:189175181-189175182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573118244	chr1:189175201-189175202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113123461	chr1:189175245-189175246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538933313	chr1:189175301-189175302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181730084	chr1:189175383-189175384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186399037	chr1:189175385-189175386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527617988	chr1:189181838-189181839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547352879	chr1:189181857-189181858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570391170	chr1:189181893-189181894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533041499	chr1:189181940-189181941	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189174200-189174800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:189175000-189175400	Enhancers	A549	lung
3	chr1:189181800-189182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:189182000-189182800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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