Variant report

Variant	nsv556229
Chromosome Location	chr11:106567017-106582622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 629 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10789536	chr11:106567017-106567018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186788087	chr11:106567027-106567028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112322889	chr11:106567031-106567032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11211871	chr11:106567081-106567082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540073525	chr11:106567134-106567135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs669844	chr11:106567135-106567136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540166864	chr11:106567154-106567155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183832750	chr11:106567198-106567199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573625300	chr11:106567211-106567212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573411992	chr11:106567212-106567213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534150882	chr11:106567235-106567236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542546331	chr11:106567264-106567265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139772382	chr11:106567298-106567299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574593908	chr11:106567306-106567307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149384433	chr11:106567325-106567326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563317357	chr11:106567396-106567397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575299682	chr11:106567417-106567418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79504931	chr11:106567452-106567453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187894667	chr11:106567494-106567495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575808981	chr11:106567514-106567515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528355483	chr11:106567545-106567546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12362983	chr11:106567602-106567603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75810702	chr11:106567625-106567626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11211872	chr11:106567636-106567637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550651127	chr11:106567637-106567638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189629625	chr11:106567647-106567648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539427618	chr11:106567668-106567669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552492548	chr11:106567671-106567672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551723640	chr11:106567680-106567681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10502075	chr11:106567910-106567911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs534463132	chr11:106567911-106567912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555998028	chr11:106567931-106567932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574280459	chr11:106568015-106568016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182279820	chr11:106568097-106568098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186890033	chr11:106568210-106568211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192730999	chr11:106568269-106568270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376745936	chr11:106568270-106568271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531078250	chr11:106568335-106568336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185101300	chr11:106568390-106568391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547643977	chr11:106568421-106568422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564071326	chr11:106568495-106568496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573059485	chr11:106568610-106568611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551780376	chr11:106568622-106568623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540133816	chr11:106568626-106568627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188358835	chr11:106568645-106568646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540378113	chr11:106568654-106568655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570067524	chr11:106568668-106568669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561589483	chr11:106568749-106568750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529040158	chr11:106568793-106568794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71470827	chr11:106568864-106568865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106552800-106628200	Weak transcription	Pancreas	Pancrea
2	chr11:106554800-106585000	Weak transcription	Fetal Lung	lung
3	chr11:106556000-106567200	Weak transcription	Ovary	ovary
4	chr11:106565400-106568600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:106566000-106569000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:106566200-106568600	Enhancers	NHEK	skin
7	chr11:106566200-106568800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:106566400-106567600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:106567000-106567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:106567000-106567800	Weak transcription	NH-A	brain
11	chr11:106567400-106567800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:106567400-106568200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:106567800-106568000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:106567800-106568000	Enhancers	NH-A	brain
15	chr11:106573600-106573800	Enhancers	Left Ventricle	heart
16	chr11:106574800-106575200	Enhancers	NHEK	skin
17	chr11:106575200-106576600	Weak transcription	NHEK	skin
18	chr11:106576600-106577800	Enhancers	NHEK	skin
19	chr11:106576800-106577200	Enhancers	HMEC	breast
20	chr11:106576800-106577800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:106577000-106577400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:106577000-106577600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:106577000-106577600	Enhancers	NH-A	brain
24	chr11:106577000-106577800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:106577600-106585200	Weak transcription	NH-A	brain
26	chr11:106579000-106579400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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