Variant report

Variant	esv3343792
Chromosome Location	chr11:83217704-83219852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542474903	chr11:83217734-83217735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570426091	chr11:83217742-83217743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563859884	chr11:83217754-83217755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374070628	chr11:83217760-83217761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546428811	chr11:83217803-83217804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534276662	chr11:83217809-83217810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377399683	chr11:83217815-83217816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546399356	chr11:83217816-83217817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546197049	chr11:83217826-83217827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567978672	chr11:83217838-83217839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561849229	chr11:83217842-83217843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182094413	chr11:83217853-83217854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138607621	chr11:83217862-83217863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568708738	chr11:83217877-83217878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539354244	chr11:83217895-83217896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187195899	chr11:83217984-83217985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141731068	chr11:83218000-83218001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534991091	chr11:83218055-83218056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192575269	chr11:83218061-83218062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185363645	chr11:83218074-83218075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535947637	chr11:83218086-83218087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188285863	chr11:83218094-83218095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556716841	chr11:83218116-83218117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193286031	chr11:83218124-83218125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546193684	chr11:83218162-83218163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564773439	chr11:83218260-83218261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185518061	chr11:83218391-83218392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540259091	chr11:83218414-83218415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35883560	chr11:83218442-83218443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398045338	chr11:83218448-83218449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71066044	chr11:83218455-83218456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111830004	chr11:83218485-83218486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11233646	chr11:83218498-83218499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11233647	chr11:83218502-83218503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34462557	chr11:83218513-83218514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146104746	chr11:83218524-83218525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201854143	chr11:83218527-83218528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562353606	chr11:83218547-83218548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140074569	chr11:83218553-83218554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551411006	chr11:83218606-83218607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188334562	chr11:83218762-83218763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116005094	chr11:83218763-83218764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372211622	chr11:83218787-83218788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201367735	chr11:83218802-83218803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12291353	chr11:83218803-83218804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59086507	chr11:83218831-83218832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12225873	chr11:83218839-83218840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs71066045	chr11:83218841-83218842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568415415	chr11:83218886-83218887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535962190	chr11:83218983-83218984	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83211400-83220000	Weak transcription	Brain Angular Gyrus	brain
2	chr11:83211600-83219000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:83211600-83222200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:83214000-83219400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:83215800-83219600	Weak transcription	Liver	Liver
6	chr11:83215800-83219600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:83217600-83218000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:83218000-83221600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:83218600-83219800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:83219000-83220400	Enhancers	Brain Substantia Nigra	brain
11	chr11:83219400-83222600	Enhancers	Fetal Intestine Large	intestine
12	chr11:83219600-83220000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:83219600-83220400	Enhancers	Liver	Liver
14	chr11:83219600-83220600	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:83219600-83220800	Enhancers	Fetal Intestine Small	intestine
16	chr11:83219600-83221000	Enhancers	HepG2	liver
17	chr11:83219800-83220200	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:83219800-83220200	Enhancers	Brain Hippocampus Middle	brain
19	chr11:83219800-83220400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:83219800-83220600	Enhancers	Brain Anterior Caudate	brain

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