Variant report

Variant	nsv525276
Chromosome Location	chr2:10886098-10889788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10886654..10889049-chr2:10889498..10891329,2	MCF-7	breast:
2	chr2:10879563..10881416-chr2:10888633..10890262,2	K562	blood:
3	chr2:10887364..10890234-chr2:10894383..10895991,2	K562	blood:
4	chr2:10886654..10889049-chr2:10889498..10891329,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4669621	chr2:10886098-10886099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528541219	chr2:10886153-10886154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540519034	chr2:10886167-10886168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76819577	chr2:10886169-10886170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192755341	chr2:10886190-10886191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184414523	chr2:10886212-10886213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551271478	chr2:10886250-10886251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569540742	chr2:10886251-10886252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566966206	chr2:10886261-10886262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28877017	chr2:10886287-10886288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28765100	chr2:10886292-10886293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569169843	chr2:10886316-10886317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4669622	chr2:10886322-10886323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552931527	chr2:10886329-10886330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11680645	chr2:10886389-10886390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10929697	chr2:10886446-10886447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575157721	chr2:10886447-10886448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534795434	chr2:10886562-10886563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542661132	chr2:10886592-10886593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554947963	chr2:10886593-10886594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369109695	chr2:10886681-10886682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573298652	chr2:10886683-10886684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149745068	chr2:10886684-10886685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28688451	chr2:10886705-10886706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189132435	chr2:10886727-10886728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367916800	chr2:10886769-10886770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544780394	chr2:10886782-10886783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547860072	chr2:10886788-10886789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563185184	chr2:10886796-10886797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530371865	chr2:10886827-10886828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566552177	chr2:10886828-10886829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559154369	chr2:10886958-10886959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538785617	chr2:10886967-10886968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11683190	chr2:10886978-10886979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564953896	chr2:10887014-10887015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546698396	chr2:10887027-10887028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570976119	chr2:10887033-10887034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181795481	chr2:10887034-10887035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10192975	chr2:10887075-10887076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575581519	chr2:10887123-10887124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370460640	chr2:10887132-10887133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568862410	chr2:10887146-10887147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536540692	chr2:10887147-10887148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373608357	chr2:10887165-10887166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554702192	chr2:10887188-10887189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373390141	chr2:10887226-10887227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573166882	chr2:10887248-10887249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184925459	chr2:10887278-10887279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190570908	chr2:10887312-10887313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372675758	chr2:10887318-10887319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10881600-10892400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:10882200-10895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:10883000-10899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10884200-10886800	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:10884400-10887600	Enhancers	Primary B cells from cord blood	blood
6	chr2:10885200-10886400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:10885400-10886200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:10885600-10886400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:10885800-10886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:10886000-10886200	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:10886200-10887000	Enhancers	GM12878-XiMat	blood
12	chr2:10886400-10888200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:10887000-10887400	Weak transcription	GM12878-XiMat	blood
14	chr2:10887400-10887800	Enhancers	GM12878-XiMat	blood
15	chr2:10888200-10888600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:10889600-10894200	Weak transcription	Right Atrium	heart

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