Variant report

Variant	nsv945401
Chromosome Location	chr1:192878498-192882992
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	chr1:192878910..192881090-chr1:193133221..193136133,2	K562	blood:
2	chr1:192880021..192882711-chr1:192883019..192884910,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567597228	chr1:192878524-192878525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529943204	chr1:192878530-192878531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144518694	chr1:192878532-192878533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35471066	chr1:192878533-192878534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181694142	chr1:192878549-192878550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369191103	chr1:192878553-192878554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77918437	chr1:192878572-192878573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185420800	chr1:192878610-192878611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145065504	chr1:192878622-192878623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551011960	chr1:192878651-192878652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35040499	chr1:192878668-192878669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78187475	chr1:192878717-192878718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542914450	chr1:192878734-192878735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553349716	chr1:192878742-192878743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376037025	chr1:192878754-192878755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147566931	chr1:192878831-192878832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545400509	chr1:192878867-192878868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140996769	chr1:192878873-192878874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142460614	chr1:192878908-192878909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540009864	chr1:192878933-192878934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151289920	chr1:192878942-192878943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368815460	chr1:192879005-192879006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544466667	chr1:192879028-192879029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560872606	chr1:192879032-192879033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112845269	chr1:192879047-192879048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201395235	chr1:192879049-192879050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188586159	chr1:192879063-192879064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567152910	chr1:192879067-192879068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560114348	chr1:192879081-192879082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142544978	chr1:192879140-192879141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367602111	chr1:192879153-192879154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553930763	chr1:192879154-192879155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551737620	chr1:192879174-192879175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568649150	chr1:192879201-192879202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537542296	chr1:192879210-192879211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546032205	chr1:192879308-192879309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551154755	chr1:192879324-192879325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181341498	chr1:192879376-192879377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536976648	chr1:192879385-192879386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139677292	chr1:192879396-192879397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573469014	chr1:192879411-192879412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373154787	chr1:192879414-192879415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539076980	chr1:192879415-192879416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558990297	chr1:192879420-192879421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575811666	chr1:192879421-192879422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544677251	chr1:192879446-192879447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573542826	chr1:192879483-192879484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561152048	chr1:192879504-192879505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574518568	chr1:192879532-192879533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370367268	chr1:192879547-192879548	Weak transcription	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
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
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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192874600-192879600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
3	chr1:192876600-192878800	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:192877600-192881400	Weak transcription	HSMMtube	muscle
5	chr1:192877800-192879600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:192877800-192884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:192877800-192884000	Weak transcription	Small Intestine	intestine
8	chr1:192878000-192881200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:192878000-192883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:192878200-192879400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:192878200-192879600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:192878400-192881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:192878400-192883000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:192878400-192883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:192878800-192883000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:192879600-192879800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:192879600-192879800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:192879600-192880000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:192879600-192880400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:192880400-192880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:192880400-192880600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:192880800-192882000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:192881200-192881800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:192881400-192884400	Enhancers	HSMMtube	muscle
25	chr1:192881600-192881800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:192881800-192883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:192882000-192883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:192882000-192884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:192882000-192884400	Enhancers	Stomach Mucosa	stomach
30	chr1:192882400-192882800	Enhancers	Liver	Liver
31	chr1:192882600-192884000	Enhancers	NHEK	skin
32	chr1:192882800-192883200	Weak transcription	Liver	Liver
33	chr1:192882800-192883600	Enhancers	Ovary	ovary
34	chr1:192882800-192883800	Enhancers	HMEC	breast

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