Variant report

Variant	nsv947211
Chromosome Location	chr1:194641659-194650394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194645953..194649314-chr1:194649785..194652576,3	K562	blood:
2	chr1:194647996..194650865-chr1:194651432..194653062,2	K562	blood:
3	chr1:194645953..194649314-chr1:194649785..194652576,3	K562	blood:
4	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:
5	chr1:194647825..194650352-chr1:194653770..194656490,2	K562	blood:

Extended variants
information (count: 196 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs10921633	chr1:194641666-194641667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564851326	chr1:194641683-194641684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549847131	chr1:194641699-194641700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543058327	chr1:194641754-194641755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571251904	chr1:194641775-194641776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538771761	chr1:194641802-194641803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558415681	chr1:194641834-194641835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547492186	chr1:194641898-194641899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572913187	chr1:194641902-194641903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536073563	chr1:194641932-194641933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141507098	chr1:194641934-194641935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12746493	chr1:194641936-194641937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114036613	chr1:194641973-194641974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7523358	chr1:194641984-194641985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576812870	chr1:194641998-194641999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376768310	chr1:194641999-194642000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146407189	chr1:194642027-194642028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559300553	chr1:194642044-194642045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12726603	chr1:194642050-194642051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186973470	chr1:194642061-194642062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563900450	chr1:194642079-194642080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189989606	chr1:194642135-194642136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10921634	chr1:194642155-194642156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12239839	chr1:194642160-194642161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577815079	chr1:194642198-194642199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75888482	chr1:194642243-194642244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182576986	chr1:194642266-194642267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565647816	chr1:194642308-194642309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12239800	chr1:194642357-194642358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528607837	chr1:194642359-194642360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186605006	chr1:194642423-194642424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569506500	chr1:194642428-194642429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536984440	chr1:194642433-194642434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77898520	chr1:194642488-194642489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375947929	chr1:194642495-194642496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565554332	chr1:194642519-194642520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139756686	chr1:194642527-194642528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547139883	chr1:194642550-194642551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61188979	chr1:194642552-194642553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142924887	chr1:194642590-194642591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56798290	chr1:194642596-194642597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371554343	chr1:194642597-194642598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574880114	chr1:194642598-194642599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561779970	chr1:194642616-194642617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369631740	chr1:194642660-194642661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542308376	chr1:194642677-194642678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557302439	chr1:194642688-194642689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575892826	chr1:194642695-194642696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191390349	chr1:194642697-194642698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374231059	chr1:194642730-194642731	Weak transcription	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194637200-194644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:194643000-194643400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:194644800-194645000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:194648000-194649200	Enhancers	Fetal Lung	lung
5	chr1:194648800-194649200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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