Variant report

Variant	esv2626366
Chromosome Location	chr11:101258594-101260074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146138146	chr11:101258610-101258611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368246420	chr11:101258623-101258624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553243595	chr11:101258625-101258626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140185220	chr11:101258675-101258676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571655316	chr11:101258721-101258722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74875363	chr11:101258722-101258723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2513145	chr11:101258733-101258734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71462683	chr11:101258749-101258750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532283963	chr11:101258792-101258793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551906368	chr11:101258817-101258818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568978856	chr11:101258875-101258876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77081192	chr11:101258897-101258898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541221530	chr11:101258899-101258900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531400995	chr11:101258917-101258918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551347716	chr11:101258922-101258923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568024015	chr11:101258958-101258959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112390236	chr11:101259021-101259022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181521097	chr11:101259088-101259089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141597012	chr11:101259115-101259116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571113056	chr11:101259163-101259164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77052734	chr11:101259221-101259222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574821400	chr11:101259228-101259229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576595064	chr11:101259231-101259232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113364472	chr11:101259358-101259359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184756174	chr11:101259368-101259369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572098345	chr11:101259373-101259374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540985610	chr11:101259386-101259387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2508361	chr11:101259397-101259398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567354887	chr11:101259409-101259410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11224745	chr11:101259442-101259443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150876724	chr11:101259454-101259455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190411500	chr11:101259474-101259475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77532735	chr11:101259481-101259482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548261266	chr11:101259490-101259491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561670096	chr11:101259508-101259509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375235505	chr11:101259516-101259517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547390483	chr11:101259566-101259567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2513144	chr11:101259609-101259610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76620027	chr11:101259652-101259653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550237013	chr11:101259681-101259682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139372406	chr11:101259730-101259731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545281697	chr11:101259733-101259734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535711009	chr11:101259737-101259738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181763078	chr11:101259750-101259751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572161026	chr11:101259761-101259762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73587921	chr11:101259795-101259796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78579734	chr11:101259848-101259849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149688409	chr11:101259875-101259876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147801934	chr11:101259924-101259925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12802973	chr11:101259938-101259939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101253600-101268600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:101253600-101278200	Weak transcription	Ovary	ovary
3	chr11:101257800-101271000	Weak transcription	Left Ventricle	heart

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