Variant report

Variant	esv3478753
Chromosome Location	chr11:83810753-83811335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373571253	chr11:83810764-83810765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189898029	chr11:83810770-83810771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568097216	chr11:83810774-83810775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567639048	chr11:83810782-83810783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112840489	chr11:83810791-83810792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529194382	chr11:83810807-83810808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182265601	chr11:83810820-83810821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536408881	chr11:83810827-83810828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200398289	chr11:83810845-83810846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71468359	chr11:83810872-83810873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61897624	chr11:83810880-83810881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373401269	chr11:83810901-83810902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375290601	chr11:83810918-83810919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368976638	chr11:83810920-83810921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61897626	chr11:83810939-83810940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372983275	chr11:83810956-83810957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376573983	chr11:83810958-83810959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377753080	chr11:83810968-83810969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79117982	chr11:83810994-83810995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371222521	chr11:83811006-83811007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539220401	chr11:83811011-83811012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375007697	chr11:83811044-83811045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370674386	chr11:83811070-83811071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367553804	chr11:83811082-83811083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66700083	chr11:83811107-83811108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370774474	chr11:83811120-83811121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs68191516	chr11:83811145-83811146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187527318	chr11:83811158-83811159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71274441	chr11:83811162-83811163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190020158	chr11:83811167-83811168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375217359	chr11:83811183-83811184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376126360	chr11:83811184-83811185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368426086	chr11:83811186-83811187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557950499	chr11:83811201-83811202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182652066	chr11:83811205-83811206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548325876	chr11:83811206-83811207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71066088	chr11:83811214-83811215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72095645	chr11:83811221-83811222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370250064	chr11:83811222-83811223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374203852	chr11:83811224-83811225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71469621	chr11:83811225-83811226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370848886	chr11:83811234-83811235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71469622	chr11:83811236-83811237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58317439	chr11:83811243-83811244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61259909	chr11:83811252-83811253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538912449	chr11:83811254-83811255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34662898	chr11:83811262-83811263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200943342	chr11:83811272-83811273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71465963	chr11:83811280-83811281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58070766	chr11:83811281-83811282	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:12 , 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	chr11:83809800-83811600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:83810200-83812600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:83810400-83812200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:83810600-83812200	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:83810600-83812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:83810600-83812600	Weak transcription	Fetal Heart	heart

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