Variant report

Variant	esv2762929
Chromosome Location	chr11:86984276-86986505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12281665	chr11:86984276-86984277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534211345	chr11:86984281-86984282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143009066	chr11:86984346-86984347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111894319	chr11:86984360-86984361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182045884	chr11:86984396-86984397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570675365	chr11:86984420-86984421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55819544	chr11:86984439-86984440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568857238	chr11:86984442-86984443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575408228	chr11:86984505-86984506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187096501	chr11:86984610-86984611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12294991	chr11:86984624-86984625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190549118	chr11:86984649-86984650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546604490	chr11:86984729-86984730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78897740	chr11:86984776-86984777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529193552	chr11:86984827-86984828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182737815	chr11:86984839-86984840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12295149	chr11:86984874-86984875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537662313	chr11:86984902-86984903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200225355	chr11:86984925-86984926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369204210	chr11:86984935-86984936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551553226	chr11:86985000-86985001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536919844	chr11:86985008-86985009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201867133	chr11:86985042-86985043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34056293	chr11:86985044-86985045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572919203	chr11:86985046-86985047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371457229	chr11:86985050-86985051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571737689	chr11:86985055-86985056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185475223	chr11:86985079-86985080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12290427	chr11:86985111-86985112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117600408	chr11:86985125-86985126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536993312	chr11:86985146-86985147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556905926	chr11:86985155-86985156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371744706	chr11:86985161-86985162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545604040	chr11:86985164-86985165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375106544	chr11:86985196-86985197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115310303	chr11:86985202-86985203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577700287	chr11:86985210-86985211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574361620	chr11:86985214-86985215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539836151	chr11:86985245-86985246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12290541	chr11:86985288-86985289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111460300	chr11:86985291-86985292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150837980	chr11:86985308-86985309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36044870	chr11:86985327-86985328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs67620325	chr11:86985328-86985329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139316892	chr11:86985367-86985368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs301598	chr11:86985408-86985409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531379196	chr11:86985422-86985423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551582622	chr11:86985436-86985437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571635799	chr11:86985464-86985465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149921438	chr11:86985488-86985489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86969800-86995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:86978000-86995200	Weak transcription	NHDF-Ad	bronchial
3	chr11:86980000-86986400	Weak transcription	Fetal Stomach	stomach
4	chr11:86982600-86984600	Weak transcription	Hela-S3	cervix
5	chr11:86984600-86985000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:86984600-86985000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:86984600-86985000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:86984600-86985200	Enhancers	Hela-S3	cervix
9	chr11:86984800-86985200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:86984800-86985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:86984800-86985400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:86985000-86992800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:86985200-86990800	Weak transcription	Hela-S3	cervix
14	chr11:86986200-86986400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:86986200-86986600	Enhancers	Colon Smooth Muscle	Colon
16	chr11:86986400-86987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:86986400-86987200	Enhancers	Fetal Stomach	stomach

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