Variant report

Variant	esv3422712
Chromosome Location	chr1:193997229-193998427
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	chr1:193990094..193991788-chr1:193994574..193997368,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556828267	chr1:193997237-193997238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111536834	chr1:193997238-193997239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190149498	chr1:193997330-193997331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555580849	chr1:193997354-193997355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148213490	chr1:193997393-193997394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572461545	chr1:193997436-193997437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546548414	chr1:193997444-193997445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541083107	chr1:193997475-193997476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144010951	chr1:193997485-193997486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10921478	chr1:193997496-193997497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113632864	chr1:193997506-193997507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs67007217	chr1:193997507-193997508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59525072	chr1:193997514-193997515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12747500	chr1:193997515-193997516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543299445	chr1:193997517-193997518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71642949	chr1:193997525-193997526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12747507	chr1:193997526-193997527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201878450	chr1:193997527-193997528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71642950	chr1:193997539-193997540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12723756	chr1:193997551-193997552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12747524	chr1:193997559-193997560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376618180	chr1:193997572-193997573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374120290	chr1:193997575-193997576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372565470	chr1:193997578-193997579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199887539	chr1:193997585-193997586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376463751	chr1:193997586-193997587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368700984	chr1:193997588-193997589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372276461	chr1:193997589-193997590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201559926	chr1:193997606-193997607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200014060	chr1:193997607-193997608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111928136	chr1:193997608-193997609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113758479	chr1:193997609-193997610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563186878	chr1:193997632-193997633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374556521	chr1:193997648-193997649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371231023	chr1:193997651-193997652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547576175	chr1:193997652-193997653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180996414	chr1:193997654-193997655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376367651	chr1:193997662-193997663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529077399	chr1:193997665-193997666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111205676	chr1:193997672-193997673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201000520	chr1:193997688-193997689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71642951	chr1:193997691-193997692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144312210	chr1:193997692-193997693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71642952	chr1:193997696-193997697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549116964	chr1:193997707-193997708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71642953	chr1:193997708-193997709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377119479	chr1:193997723-193997724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182559813	chr1:193997729-193997730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369128346	chr1:193997737-193997738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372591635	chr1:193997747-193997748	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193995400-193998200	Enhancers	Liver	Liver
2	chr1:193997600-193997800	Enhancers	HSMM	muscle

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