Variant report

Variant	nsv963211
Chromosome Location	chr2:11215557-11217977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11215555..11217160-chr2:11266403..11268332,2	K562	blood:
2	chr2:11213696..11215266-chr2:11216231..11217770,2	MCF-7	breast:
3	chr2:11214515..11217440-chr2:11219312..11221040,2	K562	blood:
4	chr2:11215499..11217750-chr2:11259402..11261884,2	MCF-7	breast:
5	chr2:11192467..11195244-chr2:11216881..11219643,2	MCF-7	breast:
6	chr2:11217637..11219287-chr2:11222493..11224652,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561613540	chr2:11215599-11215600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6432167	chr2:11215602-11215603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77423115	chr2:11215621-11215622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376011211	chr2:11215640-11215641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189844648	chr2:11215656-11215657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539293337	chr2:11215664-11215665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181069389	chr2:11215730-11215731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6432168	chr2:11215734-11215735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs537403068	chr2:11215750-11215751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555816041	chr2:11215897-11215898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185557056	chr2:11215916-11215917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563697305	chr2:11215949-11215950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138841565	chr2:11215959-11215960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553424799	chr2:11215981-11215982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578116668	chr2:11216001-11216002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577706541	chr2:11216002-11216003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141467003	chr2:11216038-11216039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13418675	chr2:11216085-11216086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543148639	chr2:11216098-11216099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112618332	chr2:11216105-11216106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561325345	chr2:11216116-11216117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374280766	chr2:11216161-11216162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540915698	chr2:11216187-11216188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79987338	chr2:11216196-11216197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533101081	chr2:11216203-11216204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149648233	chr2:11216242-11216243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35182621	chr2:11216244-11216245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570103575	chr2:11216260-11216261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16857139	chr2:11216322-11216323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190315833	chr2:11216336-11216337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183628653	chr2:11216351-11216352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112236992	chr2:11216352-11216353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144376491	chr2:11216356-11216357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538427094	chr2:11216360-11216361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113895829	chr2:11216387-11216388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188565920	chr2:11216416-11216417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529447642	chr2:11216464-11216465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371092614	chr2:11216546-11216547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557292572	chr2:11216569-11216570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575459559	chr2:11216581-11216582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543097556	chr2:11216582-11216583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555082131	chr2:11216588-11216589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573296821	chr2:11216641-11216642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549562048	chr2:11216718-11216719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192201649	chr2:11216736-11216737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560109605	chr2:11216816-11216817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533093294	chr2:11216882-11216883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116829296	chr2:11216912-11216913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563320061	chr2:11216937-11216938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530763206	chr2:11217025-11217026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11214400-11219400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:11214600-11219200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:11214800-11219200	Weak transcription	Spleen	Spleen
4	chr2:11214800-11219600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:11216000-11217600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:11217600-11217800	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:11217600-11218000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:11217800-11219200	Weak transcription	Fetal Muscle Trunk	muscle

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