Variant report

Variant	nsv8613
Chromosome Location	chr1:189790453-189805958
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	chr1:189790429..189793066-chr1:189800961..189802500,2	MCF-7	breast:
2	chr1:189790429..189793066-chr1:189800961..189802500,2	MCF-7	breast:

Extended variants
information (count: 211 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375794050	chr1:189790487-189790488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386369098	chr1:189790488-189790489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373740094	chr1:189790490-189790491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201059580	chr1:189790491-189790492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376982659	chr1:189790508-189790509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557191557	chr1:189790529-189790530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537557735	chr1:189790547-189790548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552839100	chr1:189790555-189790556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80344483	chr1:189790588-189790589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566164336	chr1:189790628-189790629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9427457	chr1:189790657-189790658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9427458	chr1:189790673-189790674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557853118	chr1:189790679-189790680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188439847	chr1:189790706-189790707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572853933	chr1:189790815-189790816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9427460	chr1:189790825-189790826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568032727	chr1:189790851-189790852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549646909	chr1:189790884-189790885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9427461	chr1:189790950-189790951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116756043	chr1:189790957-189790958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10919813	chr1:189790958-189790959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572115615	chr1:189790969-189790970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534385545	chr1:189791015-189791016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34760746	chr1:189791017-189791018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368259105	chr1:189791092-189791093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558406731	chr1:189791102-189791103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576968857	chr1:189791133-189791134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578202165	chr1:189791138-189791139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4845200	chr1:189791192-189791193	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553271761	chr1:189791214-189791215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386637871	chr1:189791218-189791219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143458462	chr1:189791220-189791221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543013897	chr1:189791246-189791247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559449943	chr1:189791251-189791252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12138327	chr1:189791316-189791317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147503127	chr1:189791321-189791322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563971818	chr1:189791334-189791335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532949610	chr1:189791345-189791346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560970366	chr1:189791363-189791364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369348997	chr1:189791371-189791372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549710191	chr1:189791383-189791384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569617183	chr1:189791402-189791403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6679329	chr1:189791416-189791417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10919817	chr1:189791436-189791437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555629835	chr1:189791457-189791458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565511617	chr1:189791478-189791479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534745374	chr1:189791495-189791496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566970003	chr1:189791503-189791504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560589867	chr1:189791531-189791532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557871640	chr1:189791625-189791626	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ewing''s sarcoma	17952124	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
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189789400-189790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:189789400-189792800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:189789800-189790600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:189790000-189791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:189790200-189791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:189790800-189791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:189791200-189791400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:189791600-189791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:189801800-189804400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:189802000-189803200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:189803200-189804000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:189804000-189804200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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