Variant report

Variant	esv3450542
Chromosome Location	chr11:58855976-58859274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555186466	chr11:58855978-58855979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2848437	chr11:58855984-58855985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77132060	chr11:58855988-58855989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535112419	chr11:58855995-58855996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2849747	chr11:58856040-58856041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377462195	chr11:58856044-58856045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538673470	chr11:58856045-58856046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551806462	chr11:58856064-58856065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151058982	chr11:58856102-58856103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141005356	chr11:58856145-58856146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371012982	chr11:58856159-58856160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190602286	chr11:58856248-58856249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370255701	chr11:58856252-58856253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540596875	chr11:58856281-58856282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181822930	chr11:58856286-58856287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537763149	chr11:58856341-58856342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144959886	chr11:58856360-58856361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550652852	chr11:58856366-58856367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187455209	chr11:58856390-58856391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2848438	chr11:58856423-58856424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568759811	chr11:58856447-58856448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574687330	chr11:58856473-58856474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190681629	chr11:58856517-58856518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566725324	chr11:58856520-58856521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2849739	chr11:58856544-58856545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182877725	chr11:58856550-58856551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2848439	chr11:58856554-58856555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370652010	chr11:58856569-58856570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115177645	chr11:58856573-58856574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567375723	chr11:58856583-58856584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368256816	chr11:58856627-58856628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537978165	chr11:58856654-58856655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556289663	chr11:58856747-58856748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375254007	chr11:58856762-58856763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61527855	chr11:58856782-58856783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558191817	chr11:58856828-58856829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573440416	chr11:58856848-58856849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2849746	chr11:58856863-58856864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142206838	chr11:58856870-58856871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2849745	chr11:58856871-58856872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2849744	chr11:58856903-58856904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112763695	chr11:58856930-58856931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2849743	chr11:58856941-58856942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561788136	chr11:58856954-58856955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187828719	chr11:58856957-58856958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544329802	chr11:58856989-58856990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111752080	chr11:58857011-58857012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532996820	chr11:58857095-58857096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551525712	chr11:58857107-58857108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12421398	chr11:58857116-58857117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58854400-58857000	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:58854400-58860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:58854800-58858000	Enhancers	Primary B cells from cord blood	blood
4	chr11:58857000-58860000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:58858000-58859800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:58858200-58869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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