Variant report

Variant	esv17895
Chromosome Location	chr11:121584567-121586152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373603322	chr11:121584637-121584638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371524559	chr11:121584654-121584655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543434312	chr11:121584660-121584661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556742496	chr11:121584719-121584720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561813442	chr11:121584720-121584721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs618931	chr11:121584759-121584760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547925100	chr11:121584764-121584765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559687677	chr11:121584811-121584812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533615642	chr11:121584819-121584820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528525183	chr11:121584832-121584833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143601638	chr11:121584833-121584834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377152297	chr11:121584836-121584837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546999886	chr11:121584840-121584841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181598590	chr11:121584862-121584863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10790452	chr11:121584931-121584932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs619855	chr11:121584944-121584945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567326512	chr11:121584945-121584946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534418230	chr11:121585007-121585008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35128164	chr11:121585008-121585009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs620277	chr11:121585009-121585010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538857617	chr11:121585010-121585011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533875	chr11:121585036-121585037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184368737	chr11:121585088-121585089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78143296	chr11:121585089-121585090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116286702	chr11:121585209-121585210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528901092	chr11:121585210-121585211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147223528	chr11:121585230-121585231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574025491	chr11:121585252-121585253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs621271	chr11:121585264-121585265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574930241	chr11:121585277-121585278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146117987	chr11:121585278-121585279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562275785	chr11:121585283-121585284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201916177	chr11:121585295-121585296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200405010	chr11:121585296-121585297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148916288	chr11:121585305-121585306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377753683	chr11:121585320-121585321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559830211	chr11:121585351-121585352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73603330	chr11:121585359-121585360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545603728	chr11:121585413-121585414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397518259	chr11:121585449-121585450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386758214	chr11:121585451-121585452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112593049	chr11:121585452-121585453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61903026	chr11:121585453-121585454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs622170	chr11:121585458-121585459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113060698	chr11:121585460-121585461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548949956	chr11:121585468-121585469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148685894	chr11:121585499-121585500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs632694	chr11:121585525-121585526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs633072	chr11:121585590-121585591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78886088	chr11:121585607-121585608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121584600-121584800	Enhancers	Aorta	Aorta
2	chr11:121584800-121586200	Weak transcription	Aorta	Aorta
3	chr11:121585000-121588000	Enhancers	HSMM	muscle
4	chr11:121585200-121585400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:121585400-121586200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:121585800-121587400	Enhancers	Fetal Lung	lung
7	chr11:121586000-121587200	Enhancers	Fetal Muscle Leg	muscle
8	chr11:121586000-121587400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:121586000-121588200	Enhancers	HSMMtube	muscle

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