Variant report

Variant	esv3344785
Chromosome Location	chr11:100496098-100496274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538596859	chr11:100496099-100496100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552452707	chr11:100496103-100496104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190334632	chr11:100496112-100496113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181428253	chr11:100496113-100496114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531611318	chr11:100496119-100496120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12789860	chr11:100496143-100496144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28392832	chr11:100496160-100496161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12225189	chr11:100496177-100496178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574228713	chr11:100496192-100496193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs665353	chr11:100496194-100496195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186305680	chr11:100496202-100496203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370091800	chr11:100496209-100496210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1312381	chr11:100496211-100496212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57064069	chr11:100496226-100496227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2845932	chr11:100496228-100496229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369107306	chr11:100496229-100496230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57582530	chr11:100496232-100496233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58030993	chr11:100496243-100496244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12225192	chr11:100496245-100496246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146185282	chr11:100496253-100496254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181020835	chr11:100496260-100496261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186049635	chr11:100496262-100496263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1230492	chr11:100496270-100496271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Cancer	22183965	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
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100494800-100496200	Enhancers	HMEC	breast
2	chr11:100495400-100496200	Enhancers	Placenta	Placenta
3	chr11:100495600-100496200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:100496000-100496600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:100496200-100501600	Weak transcription	Placenta	Placenta

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