Variant report

Variant	nsv468865
Chromosome Location	chr11:106485489-106527673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:106487675..106490177-chr11:106493094..106495148,2	K562	blood:
2	chr11:106487675..106490177-chr11:106493094..106495148,2	K562	blood:

Extended variants
information (count: 410 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556084418	chr11:106489948-106489949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576714521	chr11:106490014-106490015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115826558	chr11:106490024-106490025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181462962	chr11:106490044-106490045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529804028	chr11:106490046-106490047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547965488	chr11:106490063-106490064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376542054	chr11:106490066-106490067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569844361	chr11:106490096-106490097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185948836	chr11:106490120-106490121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552584257	chr11:106490144-106490145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191839998	chr11:106490303-106490304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141700427	chr11:106490317-106490318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182424058	chr11:106490369-106490370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527564123	chr11:106490479-106490480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117140550	chr11:106490492-106490493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185758059	chr11:106490494-106490495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557585053	chr11:106490518-106490519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576245381	chr11:106490542-106490543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541649675	chr11:106490568-106490569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567450777	chr11:106490624-106490625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143760867	chr11:106490629-106490630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558524450	chr11:106490658-106490659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576732880	chr11:106490701-106490702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541332741	chr11:106490706-106490707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373940346	chr11:106490731-106490732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75773050	chr11:106490741-106490742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561454454	chr11:106490777-106490778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61903125	chr11:106490782-106490783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537820875	chr11:106490820-106490821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1791586	chr11:106490871-106490872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112165204	chr11:106490899-106490900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116571108	chr11:106490900-106490901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532443129	chr11:106490902-106490903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150278381	chr11:106490931-106490932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138797161	chr11:106491027-106491028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534499514	chr11:106491076-106491077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34083594	chr11:106491094-106491095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140524852	chr11:106491132-106491133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546958837	chr11:106491149-106491150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554218057	chr11:106491152-106491153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141036731	chr11:106491168-106491169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191008192	chr11:106491176-106491177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370081449	chr11:106491187-106491188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536145640	chr11:106491224-106491225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551205830	chr11:106491244-106491245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78072658	chr11:106491283-106491284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374303485	chr11:106491290-106491291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537163106	chr11:106491324-106491325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538542161	chr11:106491362-106491363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558332645	chr11:106491415-106491416	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106489800-106490400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr11:106489800-106491800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:106491800-106492600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:106492600-106492800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:106492800-106493600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:106496000-106496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:106496400-106496600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:106496400-106496800	Enhancers	Dnd41	blood
9	chr11:106496400-106497200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:106502600-106503600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:106503400-106505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:106511000-106512000	ZNF genes & repeats	Dnd41	blood
13	chr11:106511200-106511600	ZNF genes & repeats	Aorta	Aorta
14	chr11:106511200-106511600	ZNF genes & repeats	Pancreas	Pancrea
15	chr11:106511400-106511600	ZNF genes & repeats	Left Ventricle	heart
16	chr11:106511600-106512600	Weak transcription	Aorta	Aorta
17	chr11:106512800-106513200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:106513000-106513200	Enhancers	NHLF	lung
19	chr11:106513000-106513400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:106513800-106514000	Enhancers	NHLF	lung
21	chr11:106515200-106515600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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