Variant report

Variant	nsv825953
Chromosome Location	chr1:195882281-195883450
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	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
2	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367774309	chr1:195882306-195882307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3008554	chr1:195882313-195882314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556224889	chr1:195882317-195882318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377337661	chr1:195882320-195882321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111456715	chr1:195882367-195882368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552557560	chr1:195882376-195882377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138936381	chr1:195882379-195882380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534798066	chr1:195882450-195882451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553511505	chr1:195882473-195882474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181317895	chr1:195882546-195882547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79563366	chr1:195882570-195882571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186328045	chr1:195882618-195882619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142055755	chr1:195882691-195882692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59744735	chr1:195882775-195882776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558542855	chr1:195882789-195882790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190792985	chr1:195882800-195882801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375500154	chr1:195882815-195882816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6658626	chr1:195882846-195882847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553066052	chr1:195882848-195882849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146328538	chr1:195882866-195882867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3008555	chr1:195882882-195882883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139543941	chr1:195882897-195882898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563860925	chr1:195882903-195882904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535485938	chr1:195882989-195882990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531258385	chr1:195883023-195883024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552242673	chr1:195883039-195883040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141838088	chr1:195883042-195883043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528556917	chr1:195883044-195883045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182702408	chr1:195883061-195883062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565518709	chr1:195883062-195883063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536094321	chr1:195883071-195883072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554762780	chr1:195883108-195883109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569819776	chr1:195883130-195883131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537353205	chr1:195883140-195883141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527889998	chr1:195883199-195883200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546331926	chr1:195883201-195883202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576952790	chr1:195883207-195883208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534704509	chr1:195883298-195883299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141030210	chr1:195883315-195883316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76145739	chr1:195883337-195883338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187251379	chr1:195883341-195883342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566238835	chr1:195883364-195883365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191167127	chr1:195883392-195883393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150809102	chr1:195883424-195883425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546487751	chr1:195883427-195883428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183303886	chr1:195883430-195883431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546518396	chr1:195883444-195883445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2923910	chr1:195883446-195883447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
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	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195878000-195885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:195878600-195891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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