Variant report

Variant	esv1008385
Chromosome Location	chr11:104202033-104212143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDI1-3	chr11:104209820-104209872	XLOC_009266

Extended variants
information (count: 200 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563594943	chr11:104205084-104205085	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529541048	chr11:104205086-104205087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112806967	chr11:104205105-104205106	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368115197	chr11:104205230-104205231	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374009174	chr11:104205277-104205278	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143023622	chr11:104205280-104205281	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190206728	chr11:104205288-104205289	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113317639	chr11:104205293-104205294	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376602748	chr11:104205358-104205359	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577247762	chr11:104205367-104205368	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530891835	chr11:104205379-104205380	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550995130	chr11:104205390-104205391	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567707994	chr11:104205420-104205421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112254164	chr11:104205431-104205432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553338630	chr11:104205460-104205461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186713994	chr11:104205469-104205470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112233775	chr11:104205590-104205591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558583074	chr11:104205729-104205730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566868286	chr11:104205735-104205736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575250321	chr11:104205744-104205745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368520739	chr11:104205784-104205785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149668132	chr11:104207644-104207645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145446795	chr11:104207730-104207731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561324508	chr11:104207748-104207749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184006517	chr11:104207760-104207761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565129053	chr11:104207813-104207814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188296529	chr11:104207940-104207941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537474259	chr11:104207967-104207968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181049062	chr11:104207987-104207988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148907521	chr11:104208062-104208063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80022596	chr11:104208137-104208138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566658239	chr11:104208193-104208194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547987152	chr11:104208198-104208199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567958153	chr11:104208242-104208243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115713021	chr11:104208244-104208245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547501870	chr11:104208249-104208250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1387204	chr11:104208279-104208280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186035542	chr11:104208323-104208324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558951195	chr11:104208328-104208329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115007893	chr11:104208377-104208378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538585866	chr11:104208424-104208425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200395321	chr11:104208436-104208437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555191906	chr11:104208453-104208454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575121418	chr11:104208454-104208455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373844317	chr11:104208456-104208457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376495626	chr11:104208466-104208467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11226307	chr11:104208494-104208495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs145311062	chr11:104208508-104208509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559943822	chr11:104208583-104208584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149101682	chr11:104208586-104208587	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
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104205000-104205400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:104205200-104205800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:104207600-104209400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:104207800-104209400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:104208000-104208400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:104208000-104208800	Enhancers	Aorta	Aorta
7	chr11:104208000-104209400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:104208000-104210000	Enhancers	HMEC	breast
9	chr11:104208200-104208800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:104208200-104208800	Enhancers	HSMMtube	muscle
11	chr11:104208200-104209400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:104208600-104209400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:104208600-104209800	Enhancers	Dnd41	blood
14	chr11:104208800-104209400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:104208800-104209400	Enhancers	NHEK	skin
16	chr11:104209800-104210200	Flanking Active TSS	Dnd41	blood
17	chr11:104209800-104210600	Enhancers	Fetal Thymus	thymus
18	chr11:104210000-104221800	Weak transcription	HMEC	breast
19	chr11:104210200-104211800	Enhancers	Dnd41	blood

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