Variant report

Variant	esv3387585
Chromosome Location	chr11:101445853-101446371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548729568	chr11:101445904-101445905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4353244	chr11:101445913-101445914	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12222757	chr11:101445916-101445917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184399428	chr11:101445961-101445962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142002590	chr11:101445962-101445963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368092490	chr11:101446019-101446020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189745380	chr11:101446084-101446085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181315389	chr11:101446124-101446125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575458938	chr11:101446181-101446182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544095301	chr11:101446188-101446189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554701777	chr11:101446209-101446210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184550537	chr11:101446213-101446214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374930243	chr11:101446221-101446222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539978219	chr11:101446251-101446252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4408275	chr11:101446259-101446260	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4406798	chr11:101446272-101446273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545769475	chr11:101446324-101446325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375931726	chr11:101446330-101446331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555508287	chr11:101446359-101446360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563054700	chr11:101446362-101446363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101426400-101447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:101443800-101446000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:101444400-101449200	Enhancers	NHDF-Ad	bronchial
4	chr11:101444800-101446000	Weak transcription	Fetal Lung	lung
5	chr11:101445000-101446000	Weak transcription	NHLF	lung
6	chr11:101445400-101447800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:101445800-101446600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:101445800-101447000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:101445800-101447400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:101446000-101446800	Enhancers	Fetal Lung	lung
11	chr11:101446000-101448200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:101446000-101448600	Enhancers	NHLF	lung

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