Variant report

Variant	esv3333748
Chromosome Location	chr11:101565416-101576117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12270263	chr11:101565439-101565440	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139371841	chr11:101565491-101565492	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192552349	chr11:101565567-101565568	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113836171	chr11:101565575-101565576	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12289931	chr11:101565597-101565598	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs60222254	chr11:101565602-101565603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144139966	chr11:101565603-101565604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538792799	chr11:101565625-101565626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374190738	chr11:101565646-101565647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12271790	chr11:101565652-101565653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575781051	chr11:101565711-101565712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145118709	chr11:101565752-101565753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11224969	chr11:101565824-101565825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370400912	chr11:101565847-101565848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554735483	chr11:101565849-101565850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542897619	chr11:101565868-101565869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559317152	chr11:101565936-101565937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113298375	chr11:101565993-101565994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566462911	chr11:101566014-101566015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572970026	chr11:101566088-101566089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57386376	chr11:101566096-101566097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28583613	chr11:101566137-101566138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530479766	chr11:101566151-101566152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533224762	chr11:101566154-101566155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547038810	chr11:101566210-101566211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199961300	chr11:101566367-101566368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368455433	chr11:101566564-101566565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112720926	chr11:101566594-101566595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377133502	chr11:101566595-101566596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368232566	chr11:101566605-101566606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61918165	chr11:101566616-101566617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376082955	chr11:101566650-101566651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202141747	chr11:101566709-101566710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112108689	chr11:101566720-101566721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369013449	chr11:101566850-101566851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112057414	chr11:101567208-101567209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185438199	chr11:101567284-101567285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61918166	chr11:101567300-101567301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111539636	chr11:101567319-101567320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375927962	chr11:101567469-101567470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189566618	chr11:101567479-101567480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61918167	chr11:101567548-101567549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61918168	chr11:101567665-101567666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61918169	chr11:101567770-101567771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112669483	chr11:101567997-101567998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112370985	chr11:101568014-101568015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200940873	chr11:101568475-101568476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202049043	chr11:101568495-101568496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200344148	chr11:101568497-101568498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201589458	chr11:101568518-101568519	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:23 , 50 per page) page: 1

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

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