Variant report

Variant	esv3421494
Chromosome Location	chr11:83809929-83812477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151220076	chr11:83809954-83809955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141240360	chr11:83810010-83810011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185455615	chr11:83810017-83810018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368067536	chr11:83810020-83810021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143052833	chr11:83810051-83810052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188671875	chr11:83810055-83810056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140444308	chr11:83810059-83810060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375066503	chr11:83810088-83810089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548350116	chr11:83810111-83810112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3750917	chr11:83810113-83810114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148059903	chr11:83810178-83810179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552032401	chr11:83810207-83810208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372317467	chr11:83810252-83810253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532501081	chr11:83810268-83810269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118048432	chr11:83810293-83810294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375002013	chr11:83810325-83810326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181375478	chr11:83810334-83810335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547566780	chr11:83810335-83810336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546632195	chr11:83810346-83810347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76653083	chr11:83810373-83810374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79704631	chr11:83810376-83810377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10898202	chr11:83810412-83810413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557177608	chr11:83810428-83810429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372799097	chr11:83810438-83810439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75022690	chr11:83810460-83810461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537551738	chr11:83810487-83810488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374827348	chr11:83810494-83810495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185263797	chr11:83810527-83810528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541034018	chr11:83810528-83810529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552975977	chr11:83810561-83810562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574774740	chr11:83810576-83810577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542154935	chr11:83810594-83810595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563537691	chr11:83810596-83810597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530960987	chr11:83810626-83810627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35702624	chr11:83810639-83810640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546387473	chr11:83810680-83810681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12363188	chr11:83810719-83810720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373571253	chr11:83810764-83810765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189898029	chr11:83810770-83810771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568097216	chr11:83810774-83810775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567639048	chr11:83810782-83810783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112840489	chr11:83810791-83810792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529194382	chr11:83810807-83810808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182265601	chr11:83810820-83810821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536408881	chr11:83810827-83810828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200398289	chr11:83810845-83810846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71468359	chr11:83810872-83810873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61897624	chr11:83810880-83810881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373401269	chr11:83810901-83810902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375290601	chr11:83810918-83810919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83801400-83813400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:83802600-83812200	Weak transcription	Brain Anterior Caudate	brain
3	chr11:83803000-83812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:83803400-83811600	Weak transcription	Brain Angular Gyrus	brain
5	chr11:83808600-83812200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:83808600-83812800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:83808800-83810600	Enhancers	Brain Hippocampus Middle	brain
8	chr11:83809000-83810000	Weak transcription	Fetal Heart	heart
9	chr11:83809800-83811600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:83810000-83810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:83810000-83810400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:83810000-83810600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:83810000-83810600	Enhancers	Fetal Heart	heart
14	chr11:83810200-83812600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:83810400-83812200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:83810600-83812200	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:83810600-83812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:83810600-83812600	Weak transcription	Fetal Heart	heart
19	chr11:83811600-83814800	Enhancers	Brain Angular Gyrus	brain
20	chr11:83811600-83814800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:83812200-83812800	Enhancers	Fetal Brain Male	brain
22	chr11:83812200-83814800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:83812200-83814800	Enhancers	Brain Anterior Caudate	brain
24	chr11:83812200-83814800	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:83812200-83814800	Enhancers	Brain Hippocampus Middle	brain
26	chr11:83812400-83814800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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