Variant report

Variant	nsv826058
Chromosome Location	chr11:100908358-100908879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100905242..100907225-chr11:100907692..100910452,2	K562	blood:
2	chr11:100906950..100909158-chr11:100997718..100999682,2	MCF-7	breast:
3	chr11:100902021..100907225-chr11:100907692..100911807,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11571280	chr11:100908502-100908503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184337641	chr11:100908510-100908511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11571279	chr11:100908525-100908526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77345244	chr11:100908562-100908563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11571278	chr11:100908577-100908578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535059478	chr11:100908586-100908587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187992041	chr11:100908589-100908590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35625875	chr11:100908612-100908613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140035387	chr11:100908632-100908633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11571277	chr11:100908640-100908641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191511008	chr11:100908668-100908669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11571276	chr11:100908670-100908671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35725458	chr11:100908673-100908674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184472910	chr11:100908736-100908737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563958101	chr11:100908750-100908751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529336144	chr11:100908774-100908775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542997507	chr11:100908787-100908788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559445648	chr11:100908794-100908795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528587387	chr11:100908796-100908797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188856606	chr11:100908813-100908814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570640943	chr11:100908849-100908850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149821866	chr11:100908860-100908861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Melanoma	22183965	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
Myelofibrosis	22110671	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100905200-100935800	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:100905400-100911000	Weak transcription	Ovary	ovary
3	chr11:100905400-100920000	Weak transcription	Fetal Lung	lung
4	chr11:100905400-100997600	Weak transcription	Left Ventricle	heart
5	chr11:100905600-100908600	Weak transcription	Adipose Nuclei	Adipose
6	chr11:100905600-100910400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:100905800-100908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:100908400-100909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:100908600-100909000	Enhancers	Adipose Nuclei	Adipose

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