Variant report

Variant	esv1804035
Chromosome Location	chr11:93683680-93688514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
2	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
3	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 77 )

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	rs181469661	chr11:93684001-93684002	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs543904582	chr11:93684047-93684048	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs184699961	chr11:93684083-93684084	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs188621732	chr11:93684084-93684085	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs548040420	chr11:93684170-93684171	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs549849050	chr11:93684187-93684188	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2511398	chr11:93684809-93684810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151214920	chr11:93684812-93684813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564304130	chr11:93684847-93684848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2460057	chr11:93684902-93684903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550261047	chr11:93684938-93684939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568483610	chr11:93684985-93684986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7942236	chr11:93685031-93685032	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs908749	chr11:93685035-93685036	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566279867	chr11:93685056-93685057	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201731770	chr11:93685068-93685069	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139746131	chr11:93685087-93685088	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558071078	chr11:93685102-93685103	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145262999	chr11:93685163-93685164	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536359469	chr11:93685196-93685197	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555809480	chr11:93685237-93685238	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574170304	chr11:93685317-93685318	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577168934	chr11:93685374-93685375	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201116454	chr11:93685422-93685423	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201352889	chr11:93685424-93685425	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67487531	chr11:93685425-93685426	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553341678	chr11:93685436-93685437	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186997042	chr11:93685472-93685473	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs67915626	chr11:93685473-93685474	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs564138681	chr11:93685499-93685500	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147612201	chr11:93685519-93685520	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567836191	chr11:93685560-93685561	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562193236	chr11:93685565-93685566	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192504584	chr11:93685598-93685599	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60539088	chr11:93685604-93685605	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12792941	chr11:93685640-93685641	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533465162	chr11:93685715-93685716	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552016384	chr11:93685726-93685727	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570177083	chr11:93685768-93685769	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74493003	chr11:93685784-93685785	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs398076147	chr11:93685785-93685786	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182853373	chr11:93685832-93685833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555522888	chr11:93685833-93685834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567854130	chr11:93685898-93685899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531272343	chr11:93685944-93685945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535172254	chr11:93685974-93685975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551299828	chr11:93685981-93685982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2008041	chr11:93686002-93686003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142113075	chr11:93686020-93686021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545796695	chr11:93686050-93686051	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93684000-93684200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:93684800-93686400	Enhancers	HepG2	liver
3	chr11:93685000-93685800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:93687000-93687800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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