Variant report

Variant	nsv947516
Chromosome Location	chr1:194485802-194493290
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	chr1:194490383..194492848-chr1:194494979..194497910,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112372668	chr1:194486410-194486411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142107551	chr1:194486467-194486468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576475917	chr1:194486519-194486520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537546077	chr1:194486545-194486546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534014640	chr1:194486546-194486547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559053898	chr1:194486555-194486556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577257788	chr1:194486557-194486558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555960463	chr1:194486609-194486610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2494323	chr1:194486619-194486620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61814877	chr1:194486624-194486625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181630094	chr1:194486646-194486647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542126342	chr1:194486704-194486705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138347833	chr1:194486742-194486743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4266861	chr1:194486776-194486777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574516109	chr1:194486777-194486778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564682535	chr1:194486811-194486812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35409657	chr1:194486824-194486825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397699930	chr1:194486834-194486835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142848394	chr1:194486851-194486852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559872730	chr1:194486939-194486940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144239079	chr1:194486959-194486960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565702395	chr1:194486991-194486992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556990178	chr1:194487044-194487045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113754284	chr1:194487104-194487105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78211782	chr1:194487114-194487115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570076085	chr1:194487115-194487116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537482752	chr1:194487124-194487125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78461128	chr1:194487149-194487150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570954789	chr1:194487150-194487151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35291962	chr1:194487157-194487158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148705044	chr1:194487161-194487162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572143500	chr1:194487186-194487187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553548100	chr1:194487187-194487188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542351766	chr1:194487196-194487197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111254169	chr1:194487202-194487203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112346149	chr1:194487208-194487209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557269191	chr1:194487227-194487228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575526924	chr1:194487245-194487246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543040008	chr1:194487252-194487253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564710347	chr1:194487258-194487259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190037376	chr1:194487269-194487270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540739870	chr1:194487294-194487295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559501817	chr1:194487354-194487355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113216012	chr1:194487456-194487457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548395694	chr1:194487462-194487463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576469096	chr1:194487505-194487506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76418983	chr1:194487706-194487707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530804232	chr1:194487745-194487746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552641710	chr1:194487762-194487763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540607601	chr1:194487763-194487764	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194486400-194487400	Enhancers	Primary B cells from cord blood	blood
2	chr1:194486600-194487200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:194487000-194487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:194487400-194488400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:194488400-194488600	Enhancers	Primary B cells from cord blood	blood
6	chr1:194490400-194490600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links