Variant report

Variant	nsv548675
Chromosome Location	chr1:194445466-194453052
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	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
2	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6699952	chr1:194445466-194445467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376419149	chr1:194445503-194445504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182459934	chr1:194445510-194445511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189051667	chr1:194445595-194445596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572216305	chr1:194445634-194445635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564239196	chr1:194445677-194445678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528347499	chr1:194445693-194445694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547020438	chr1:194445700-194445701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113543676	chr1:194445740-194445741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529298153	chr1:194445759-194445760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185233732	chr1:194445785-194445786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569354571	chr1:194445869-194445870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189855872	chr1:194445871-194445872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192190093	chr1:194445884-194445885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6660372	chr1:194445948-194445949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369581384	chr1:194445966-194445967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71642987	chr1:194445970-194445971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183814753	chr1:194446051-194446052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188587475	chr1:194446059-194446060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374150562	chr1:194446060-194446061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180823439	chr1:194446099-194446100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143042242	chr1:194446149-194446150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556659784	chr1:194446186-194446187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575264929	chr1:194446202-194446203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77379916	chr1:194446249-194446250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557888783	chr1:194446250-194446251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186064261	chr1:194446287-194446288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540574835	chr1:194446321-194446322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376572470	chr1:194446334-194446335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370624377	chr1:194446348-194446349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544591722	chr1:194446370-194446371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12130953	chr1:194446382-194446383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533415141	chr1:194446384-194446385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551579386	chr1:194446394-194446395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114858621	chr1:194446406-194446407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386638134	chr1:194446409-194446410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6688282	chr1:194446411-194446412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113929574	chr1:194446436-194446437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535096614	chr1:194446458-194446459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181967409	chr1:194446460-194446461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548226299	chr1:194446470-194446471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556499162	chr1:194446502-194446503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10921585	chr1:194446549-194446550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75308371	chr1:194446608-194446609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6663494	chr1:194446626-194446627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573030218	chr1:194446631-194446632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548360833	chr1:194446722-194446723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540409901	chr1:194446745-194446746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545846474	chr1:194446787-194446788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555724222	chr1:194446807-194446808	Enhancers	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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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
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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194443200-194445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:194445200-194445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:194445400-194446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:194445800-194446600	Enhancers	Fetal Heart	heart
5	chr1:194446200-194446800	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:194446400-194447600	Enhancers	Primary B cells from cord blood	blood
7	chr1:194446600-194446800	Enhancers	Right Ventricle	heart

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