Variant report

Variant	esv3367090
Chromosome Location	chr11:102419936-102420198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102419758..102422007-chr11:102423103..102425933,2	MCF-7	breast:
2	chr11:102415138..102417867-chr11:102418004..102420468,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28644502	chr11:102419941-102419942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71462701	chr11:102419943-102419944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71462702	chr11:102419945-102419946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200697128	chr11:102419952-102419953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11605359	chr11:102419953-102419954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55716564	chr11:102419961-102419962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562923685	chr11:102419963-102419964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531898007	chr11:102419970-102419971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548622880	chr11:102419971-102419972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12282337	chr11:102419974-102419975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568690014	chr11:102419976-102419977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531080286	chr11:102419982-102419983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12282349	chr11:102420028-102420029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547404692	chr11:102420036-102420037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102415400-102420200	Enhancers	GM12878-XiMat	blood
2	chr11:102416400-102429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:102416600-102422000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:102416800-102434400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:102417400-102420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:102417400-102422800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:102417800-102423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:102418200-102423000	Weak transcription	HSMM	muscle
9	chr11:102418200-102423000	Weak transcription	Osteobl	bone
10	chr11:102418200-102423800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:102418800-102421400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:102419600-102421800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:102419600-102422000	Weak transcription	Gastric	stomach
14	chr11:102419600-102429200	Weak transcription	Lung	lung

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