Variant report

Variant	esv3327283
Chromosome Location	chr11:107101592-107103790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149164775	chr11:107101657-107101658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77037113	chr11:107101715-107101716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143312139	chr11:107101720-107101721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568117239	chr11:107101728-107101729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535568137	chr11:107101741-107101742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557554752	chr11:107101758-107101759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182662759	chr11:107101762-107101763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148022675	chr11:107101763-107101764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566388937	chr11:107101769-107101770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558212375	chr11:107101778-107101779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11212089	chr11:107101824-107101825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142169080	chr11:107101838-107101839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561749167	chr11:107101839-107101840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573765830	chr11:107101845-107101846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555510584	chr11:107101865-107101866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146096502	chr11:107101953-107101954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112074481	chr11:107101955-107101956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4753790	chr11:107101960-107101961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs552439892	chr11:107101996-107101997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142927499	chr11:107101998-107101999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528390446	chr11:107102014-107102015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546593016	chr11:107102017-107102018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188127855	chr11:107102019-107102020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111938790	chr11:107102023-107102024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34567742	chr11:107102042-107102043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200717333	chr11:107102069-107102070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550723386	chr11:107102075-107102076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75864882	chr11:107102129-107102130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539684470	chr11:107102154-107102155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200900096	chr11:107102155-107102156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538674346	chr11:107102162-107102163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142246920	chr11:107102180-107102181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10635037	chr11:107102183-107102184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71044220	chr11:107102185-107102186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567576254	chr11:107103216-107103217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200384791	chr11:107103322-107103323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538554265	chr11:107103362-107103363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73548518	chr11:107103382-107103383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145772026	chr11:107103392-107103393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2098846	chr11:107103460-107103461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7118421	chr11:107103488-107103489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371844577	chr11:107103495-107103496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180758562	chr11:107103514-107103515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184399142	chr11:107103521-107103522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373308513	chr11:107103575-107103576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107101400-107102200	Enhancers	Fetal Intestine Large	intestine
2	chr11:107101600-107102200	Enhancers	HepG2	liver
3	chr11:107103200-107103600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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