Variant report

Variant	esv1004091
Chromosome Location	chr11:101564497-101576385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 324 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565982132	chr11:101564512-101564513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530237766	chr11:101564513-101564514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534887613	chr11:101564525-101564526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76298608	chr11:101564526-101564527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144119084	chr11:101564529-101564530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11224967	chr11:101564533-101564534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550002033	chr11:101564573-101564574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569860694	chr11:101564585-101564586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535582772	chr11:101564588-101564589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187115646	chr11:101564602-101564603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192316164	chr11:101564610-101564611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534343870	chr11:101564617-101564618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11224968	chr11:101564618-101564619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147290075	chr11:101564629-101564630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537346151	chr11:101564633-101564634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557174773	chr11:101564635-101564636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543249792	chr11:101564636-101564637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543138602	chr11:101564683-101564684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553215776	chr11:101564684-101564685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571429985	chr11:101564706-101564707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116079568	chr11:101564710-101564711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545079193	chr11:101564719-101564720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148347126	chr11:101564734-101564735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533309819	chr11:101564767-101564768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75135670	chr11:101564768-101564769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150535812	chr11:101564801-101564802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369138073	chr11:101564850-101564851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529077071	chr11:101564896-101564897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12274640	chr11:101564919-101564920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565653905	chr11:101564926-101564927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184523418	chr11:101564950-101564951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545401249	chr11:101564968-101564969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551137157	chr11:101564972-101564973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139539363	chr11:101564980-101564981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537384789	chr11:101564984-101564985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557211800	chr11:101564985-101564986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113506896	chr11:101564999-101565000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567594485	chr11:101565017-101565018	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536464588	chr11:101565028-101565029	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547604875	chr11:101565033-101565034	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553488493	chr11:101565035-101565036	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558897574	chr11:101565075-101565076	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573257966	chr11:101565126-101565127	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545483222	chr11:101565127-101565128	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559034691	chr11:101565171-101565172	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575695926	chr11:101565189-101565190	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543768885	chr11:101565204-101565205	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187368677	chr11:101565229-101565230	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143124843	chr11:101565281-101565282	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542460257	chr11:101565297-101565298	Flanking Active TSS Enhancers Weak transcription	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
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	20164920	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101561600-101568400	Weak transcription	Ovary	ovary
2	chr11:101564400-101565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:101564800-101565600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr11:101564800-101565600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr11:101564800-101565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:101564800-101565800	Enhancers	A549	lung
7	chr11:101564800-101578400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:101565000-101565600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:101565600-101565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:101575200-101575600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:101575200-101575800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:101575200-101578800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:101575400-101575600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr11:101575400-101576200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:101575400-101576600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:101575600-101576600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:101575800-101576000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:101575800-101576400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:101575800-101577600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:101576000-101576200	Enhancers	Esophagus	oesophagus
21	chr11:101576000-101576800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:101576000-101577000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:101576000-101577000	Enhancers	Fetal Muscle Leg	muscle
24	chr11:101576000-101577000	Enhancers	Ovary	ovary
25	chr11:101576200-101576400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:101576200-101578400	Weak transcription	Esophagus	oesophagus
27	chr11:101576200-101578600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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