Variant report

Variant	nsv946297
Chromosome Location	chr1:146507583-146510432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:146500894..146503604-chr1:146505375..146507725,2	MCF-7	breast:
2	chr1:146505925..146509776-chr1:146553090..146557502,5	K562	blood:
3	chr1:146510052..146513278-chr1:146553511..146556367,3	MCF-7	breast:
4	chr1:146505843..146507927-chr1:146554979..146557647,2	K562	blood:

Variant related genes	Relation type
ENSG00000230832	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587707863	chr1:146507622-146507623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs587761155	chr1:146507640-146507641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587636859	chr1:146507663-146507664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587718314	chr1:146507725-146507726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140495232	chr1:146507730-146507731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587673539	chr1:146507732-146507733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35183890	chr1:146507754-146507755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375825466	chr1:146507772-146507773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12742539	chr1:146507845-146507846	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369711818	chr1:146507871-146507872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587603142	chr1:146507880-146507881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587664564	chr1:146507887-146507888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372531376	chr1:146507889-146507890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112161118	chr1:146507898-146507899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587609262	chr1:146507916-146507917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373909376	chr1:146507934-146507935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587686595	chr1:146507946-146507947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587766683	chr1:146508090-146508091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34466809	chr1:146508098-146508099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375326224	chr1:146508102-146508103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192204574	chr1:146508108-146508109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183177045	chr1:146508114-146508115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587735535	chr1:146508162-146508163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371516599	chr1:146508195-146508196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150148488	chr1:146508246-146508247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587680209	chr1:146508275-146508276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587756664	chr1:146508286-146508287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587638493	chr1:146508351-146508352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189208119	chr1:146508359-146508360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587753764	chr1:146508431-146508432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377691450	chr1:146508452-146508453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587651013	chr1:146508509-146508510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138581168	chr1:146508564-146508565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61838886	chr1:146508580-146508581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs587608892	chr1:146508612-146508613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs367868243	chr1:146508633-146508634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs587645589	chr1:146508652-146508653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587708971	chr1:146508653-146508654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587629342	chr1:146508654-146508655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117482103	chr1:146508720-146508721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs587768052	chr1:146508762-146508763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1853782	chr1:146508774-146508775	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs587701156	chr1:146508788-146508789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587721946	chr1:146508819-146508820	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11356795	chr1:146508827-146508828	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371329101	chr1:146508828-146508829	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200066481	chr1:146508829-146508830	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192294069	chr1:146508832-146508833	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149289412	chr1:146508848-146508849	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12122092	chr1:146508874-146508875	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:156)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146504600-146508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:146506800-146507600	Enhancers	NHEK	skin
3	chr1:146507400-146507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:146508800-146509200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:146509200-146509400	Flanking Active TSS	HUVEC	blood vessel
6	chr1:146509200-146509600	Enhancers	Primary T cells from cord blood	blood
7	chr1:146509200-146509600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:146509200-146509600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:146509200-146509600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:146509400-146509600	Enhancers	HUVEC	blood vessel
11	chr1:146509600-146510400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:146509600-146515000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:146510400-146514800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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