Variant report

Variant	nsv947351
Chromosome Location	chr1:190068676-190073088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:
2	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:
3	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs560755219	chr1:190068691-190068692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191652920	chr1:190068708-190068709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141203398	chr1:190068748-190068749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184246067	chr1:190068799-190068800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188950786	chr1:190068825-190068826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574226040	chr1:190068863-190068864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554115018	chr1:190068977-190068978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570792663	chr1:190069054-190069055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536753538	chr1:190069055-190069056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553978168	chr1:190069124-190069125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572436701	chr1:190069167-190069168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543153191	chr1:190069177-190069178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558547231	chr1:190069179-190069180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575499060	chr1:190069206-190069207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74426314	chr1:190069227-190069228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181680941	chr1:190069243-190069244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574560528	chr1:190069277-190069278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540361727	chr1:190069306-190069307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200733478	chr1:190069326-190069327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531982374	chr1:190069400-190069401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545785758	chr1:190069421-190069422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562999814	chr1:190069438-190069439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531922217	chr1:190069440-190069441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548372265	chr1:190069530-190069531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568344683	chr1:190069549-190069550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527765055	chr1:190069553-190069554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547540652	chr1:190069592-190069593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116339773	chr1:190069614-190069615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539405163	chr1:190069701-190069702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147518588	chr1:190069799-190069800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556646743	chr1:190069800-190069801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111510932	chr1:190069853-190069854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561228660	chr1:190069884-190069885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12044106	chr1:190069886-190069887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538168178	chr1:190069890-190069891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543474592	chr1:190069908-190069909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199883604	chr1:190069929-190069930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562750980	chr1:190069937-190069938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6427980	chr1:190069943-190069944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138485431	chr1:190070006-190070007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143960806	chr1:190070008-190070009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185486207	chr1:190070027-190070028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527917268	chr1:190070055-190070056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190788173	chr1:190070073-190070074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180843354	chr1:190070096-190070097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147326113	chr1:190070107-190070108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542151101	chr1:190070120-190070121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562061571	chr1:190070177-190070178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185893716	chr1:190070252-190070253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547974547	chr1:190070260-190070261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190066400-190068800	Weak transcription	Colonic Mucosa	Colon
2	chr1:190068000-190071800	Weak transcription	HepG2	liver
3	chr1:190068000-190085600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190068200-190069200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:190068200-190079400	Weak transcription	Fetal Intestine Large	intestine
6	chr1:190071400-190072200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:190071800-190072800	Enhancers	HepG2	liver
8	chr1:190072200-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links