Variant report

Variant	nsv1052457
Chromosome Location	chr11:106477599-106507197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:106480957..106482975-chr11:106532869..106534369,2	MCF-7	breast:
2	chr11:106487675..106490177-chr11:106493094..106495148,2	K562	blood:
3	chr11:106487675..106490177-chr11:106493094..106495148,2	K562	blood:

Extended variants
information (count: 450 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55703757	chr11:106479360-106479361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554673797	chr11:106479426-106479427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576336990	chr11:106479446-106479447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543726805	chr11:106479482-106479483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75662834	chr11:106479483-106479484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184782731	chr11:106479485-106479486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1938614	chr11:106479523-106479524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs541259077	chr11:106479648-106479649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570736427	chr11:106479731-106479732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559896243	chr11:106479804-106479805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527436971	chr11:106479818-106479819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549024402	chr11:106479833-106479834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532844908	chr11:106479834-106479835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188399253	chr11:106479855-106479856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567154491	chr11:106479905-106479906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17105870	chr11:106479962-106479963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72983842	chr11:106480086-106480087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144097818	chr11:106480094-106480095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538931193	chr11:106480114-106480115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146499480	chr11:106480115-106480116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565826972	chr11:106480135-106480136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536349209	chr11:106480153-106480154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367793482	chr11:106480161-106480162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180811903	chr11:106480167-106480168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559246421	chr11:106480232-106480233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186570596	chr11:106480275-106480276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576372639	chr11:106480320-106480321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556736378	chr11:106480348-106480349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543442495	chr11:106480423-106480424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558509809	chr11:106480435-106480436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189464579	chr11:106480603-106480604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541319022	chr11:106480709-106480710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559707685	chr11:106480773-106480774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535436659	chr11:106480799-106480800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372044849	chr11:106480819-106480820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530267968	chr11:106480957-106480958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58969648	chr11:106480989-106480990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376772309	chr11:106481035-106481036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561004497	chr11:106481036-106481037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548032265	chr11:106481058-106481059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77432418	chr11:106481094-106481095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574946754	chr11:106481121-106481122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571253821	chr11:106481153-106481154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532457288	chr11:106481290-106481291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182217011	chr11:106481337-106481338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143518458	chr11:106481370-106481371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151137063	chr11:106481380-106481381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140113282	chr11:106481471-106481472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548063689	chr11:106481475-106481476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570156611	chr11:106481512-106481513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106479200-106480200	Enhancers	NHEK	skin
2	chr11:106479400-106480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:106479400-106480200	Enhancers	HMEC	breast
4	chr11:106479600-106480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:106480000-106482400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:106482400-106483800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:106485000-106485400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:106489800-106490400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:106489800-106491800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:106491800-106492600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:106492600-106492800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:106492800-106493600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:106496000-106496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:106496400-106496600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:106496400-106496800	Enhancers	Dnd41	blood
16	chr11:106496400-106497200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:106502600-106503600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:106503400-106505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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