Variant report

Variant	nsv555942
Chromosome Location	chr11:93682348-93688514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 134 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2000960	chr11:93682348-93682349	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111435685	chr11:93682356-93682357	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7944194	chr11:93682413-93682414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs80026797	chr11:93682431-93682432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147596435	chr11:93682466-93682467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142046324	chr11:93682467-93682468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558670405	chr11:93682515-93682516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577512835	chr11:93682546-93682547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544531360	chr11:93682600-93682601	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs563104080	chr11:93682625-93682626	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs116957276	chr11:93682752-93682753	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs574376453	chr11:93682791-93682792	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs202030370	chr11:93682793-93682794	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs191845327	chr11:93682802-93682803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543442096	chr11:93682813-93682814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183576811	chr11:93682837-93682838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546616767	chr11:93682870-93682871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140513045	chr11:93682884-93682885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571156155	chr11:93682886-93682887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386756293	chr11:93682887-93682888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55649862	chr11:93682888-93682889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569049948	chr11:93682905-93682906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75404199	chr11:93682909-93682910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2462744	chr11:93682913-93682914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566663250	chr11:93682921-93682922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569290195	chr11:93682950-93682951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186750078	chr11:93683063-93683064	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs558914689	chr11:93683111-93683112	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs145807599	chr11:93683157-93683158	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs575429353	chr11:93683158-93683159	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs111741521	chr11:93683163-93683164	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs373548788	chr11:93683209-93683210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148192635	chr11:93683232-93683233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142009138	chr11:93683286-93683287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542478886	chr11:93683332-93683333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75216809	chr11:93683346-93683347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532540862	chr11:93683350-93683351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181469661	chr11:93684001-93684002	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs543904582	chr11:93684047-93684048	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs184699961	chr11:93684083-93684084	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs188621732	chr11:93684084-93684085	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs548040420	chr11:93684170-93684171	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs549849050	chr11:93684187-93684188	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs2511398	chr11:93684809-93684810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs151214920	chr11:93684812-93684813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564304130	chr11:93684847-93684848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2460057	chr11:93684902-93684903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550261047	chr11:93684938-93684939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568483610	chr11:93684985-93684986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7942236	chr11:93685031-93685032	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93681400-93682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93681400-93682400	Enhancers	NHEK	skin
3	chr11:93681400-93683400	Enhancers	HMEC	breast
4	chr11:93681600-93682400	Enhancers	HSMM	muscle
5	chr11:93681600-93683000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:93681600-93683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:93681800-93682400	Enhancers	HSMMtube	muscle
8	chr11:93681800-93683000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:93682200-93682400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:93682200-93682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:93682600-93682800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:93683000-93683200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:93684000-93684200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:93684800-93686400	Enhancers	HepG2	liver
15	chr11:93685000-93685800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:93687000-93687800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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