Variant report

Variant	nsv527699
Chromosome Location	chr1:210829448-210830320
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	chr1:210829972..210830727-chr4:175163977..175164893,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4951507	chr1:210829448-210829449	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536639800	chr1:210829453-210829454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145949958	chr1:210829459-210829460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4951508	chr1:210829477-210829478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs139802123	chr1:210829492-210829493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143319868	chr1:210829513-210829514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577922965	chr1:210829548-210829549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532739718	chr1:210829577-210829578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36088644	chr1:210829641-210829642	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145490883	chr1:210829666-210829667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536423962	chr1:210829711-210829712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148770964	chr1:210829712-210829713	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142389073	chr1:210829721-210829722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35968688	chr1:210829726-210829727	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533943889	chr1:210829744-210829745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145581685	chr1:210829750-210829751	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200289017	chr1:210829753-210829754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73065525	chr1:210829754-210829755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200656495	chr1:210829757-210829758	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542595047	chr1:210829776-210829777	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74156008	chr1:210829785-210829786	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557207026	chr1:210829811-210829812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375915615	chr1:210829846-210829847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10863848	chr1:210829867-210829868	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180879203	chr1:210829908-210829909	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531269554	chr1:210829909-210829910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74964835	chr1:210829930-210829931	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564768152	chr1:210829959-210829960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35634174	chr1:210829990-210829991	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571459214	chr1:210830008-210830009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374132691	chr1:210830014-210830015	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12123726	chr1:210830028-210830029	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12131415	chr1:210830074-210830075	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530243349	chr1:210830081-210830082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548331706	chr1:210830133-210830134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61827448	chr1:210830166-210830167	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536570642	chr1:210830172-210830173	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552633938	chr1:210830182-210830183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570794411	chr1:210830235-210830236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538218634	chr1:210830251-210830252	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556998532	chr1:210830263-210830264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575575655	chr1:210830278-210830279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186413281	chr1:210830314-210830315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4472816	chr1:210830320-210830321	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:96)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
2	chr1:210824200-210830000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:210827400-210837200	Weak transcription	Right Ventricle	heart
4	chr1:210827600-210830200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:210827600-210830400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:210827600-210830400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:210827600-210830400	Weak transcription	Brain Substantia Nigra	brain
8	chr1:210827600-210830600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:210827600-210830600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:210827600-210830600	Weak transcription	Fetal Lung	lung
11	chr1:210827600-210831000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:210827600-210831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:210827600-210831800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:210827600-210836400	Weak transcription	Fetal Heart	heart
15	chr1:210827600-210836800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:210827600-210837000	Weak transcription	Gastric	stomach
17	chr1:210827600-210843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:210827600-210847600	Weak transcription	HSMM	muscle
19	chr1:210828600-210829800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:210829000-210829600	Weak transcription	Spleen	Spleen
21	chr1:210829000-210853400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:210829400-210831600	Strong transcription	HSMMtube	muscle
23	chr1:210829600-210829800	Enhancers	Spleen	Spleen
24	chr1:210829800-210831800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:210830000-210831800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:210830200-210831600	Enhancers	Brain Hippocampus Middle	brain

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