Variant report

Variant	esv3425422
Chromosome Location	chr11:105512958-105513312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552528148	chr11:105512971-105512972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555285052	chr11:105513019-105513020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116757459	chr11:105513060-105513061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3170	chr11:105513061-105513062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
5	rs555723557	chr11:105513063-105513064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577332608	chr11:105513095-105513096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188433403	chr11:105513180-105513181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11226815	chr11:105513202-105513203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11226816	chr11:105513226-105513227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9667155	chr11:105513241-105513242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11226817	chr11:105513252-105513253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9667046	chr11:105513262-105513263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34987277	chr11:105513265-105513266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137863940	chr11:105513292-105513293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374655836	chr11:105513297-105513298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Melanoma	17363583	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
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105502600-105513800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:105502800-105523200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:105506400-105517200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:105512600-105513000	Enhancers	Fetal Intestine Large	intestine
5	chr11:105513000-105513400	Enhancers	Fetal Intestine Small	intestine

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