Variant report

Variant	nsv526050
Chromosome Location	chr1:210381257-210386585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210381723..210383742-chr1:210389217..210391260,2	MCF-7	breast:
2	chr1:210386045..210390022-chr1:210405136..210408091,3	MCF-7	breast:
3	chr1:210380217..210382028-chr1:210547417..210549081,2	K562	blood:
4	chr1:210382606..210385397-chr1:210405374..210407768,2	K562	blood:
5	chr1:210380217..210382075-chr1:210547188..210549081,2	K562	blood:
6	chr1:210385619..210388421-chr1:210545718..210548491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203706	chromatin interactions
ENSG00000082497	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs11119439	chr1:210381257-210381258	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145692038	chr1:210381261-210381262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375122511	chr1:210381263-210381264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541011465	chr1:210381339-210381340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72504330	chr1:210381373-210381374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10625715	chr1:210381374-210381375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113970379	chr1:210381375-210381376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372187353	chr1:210381377-210381378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559601099	chr1:210381412-210381413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190868231	chr1:210381480-210381481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557137502	chr1:210381510-210381511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182306782	chr1:210381537-210381538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546304111	chr1:210381543-210381544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562915145	chr1:210381584-210381585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59036306	chr1:210381675-210381676	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201540636	chr1:210381714-210381715	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187140735	chr1:210381846-210381847	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150173040	chr1:210381858-210381859	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191902048	chr1:210381860-210381861	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184460509	chr1:210381862-210381863	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72743453	chr1:210381869-210381870	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571987754	chr1:210381900-210381901	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74156106	chr1:210381911-210381912	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551025539	chr1:210381928-210381929	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569256598	chr1:210381950-210381951	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536383545	chr1:210381964-210381965	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555041708	chr1:210382013-210382014	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528533347	chr1:210382068-210382069	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573207179	chr1:210382155-210382156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185557948	chr1:210382158-210382159	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs72649968	chr1:210382169-210382170	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138618179	chr1:210382182-210382183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12062530	chr1:210382283-210382284	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562986318	chr1:210382291-210382292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190434036	chr1:210382311-210382312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531252127	chr1:210382321-210382322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542212941	chr1:210382344-210382345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs377669989	chr1:210382348-210382349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561048052	chr1:210382377-210382378	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528143283	chr1:210382380-210382381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11119440	chr1:210382384-210382385	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143466646	chr1:210382389-210382390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571054651	chr1:210382459-210382460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532893189	chr1:210382472-210382473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs151136192	chr1:210382476-210382477	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71571932	chr1:210382515-210382516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142539895	chr1:210382542-210382543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533359786	chr1:210382551-210382552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs56352141	chr1:210382555-210382556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2494181	chr1:210382576-210382577	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

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
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210381600-210381800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr1:210381800-210382600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:210382600-210382800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:210386200-210387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210386400-210386800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:210386400-210387000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:210386400-210387000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:210386400-210387000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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