Variant report

Variant	nsv556278
Chromosome Location	chr11:106958304-107006900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:106989221..106991888-chr11:106999463..107001388,2	K562	blood:
2	chr11:106999107..107000959-chr11:107001303..107003964,3	K562	blood:
3	chr11:106999107..107000959-chr11:107001303..107003964,3	K562	blood:
4	chr11:106989221..106991888-chr11:106999463..107001388,2	K562	blood:

Extended variants
information (count: 419 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:419 , 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	rs376215109	chr11:106962406-106962407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75121761	chr11:106962471-106962472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373707398	chr11:106962482-106962483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182105862	chr11:106962484-106962485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554022818	chr11:106962496-106962497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541801706	chr11:106962514-106962515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73000321	chr11:106962523-106962524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186660610	chr11:106962528-106962529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554592919	chr11:106962544-106962545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74716022	chr11:106962559-106962560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576438223	chr11:106962585-106962586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377446042	chr11:106973438-106973439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573285118	chr11:106973439-106973440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567818434	chr11:106973520-106973521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56259394	chr11:106973604-106973605	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549730844	chr11:106973622-106973623	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571330956	chr11:106973656-106973657	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538676035	chr11:106973668-106973669	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553960124	chr11:106973674-106973675	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572547733	chr11:106973683-106973684	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533701343	chr11:106973687-106973688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11212032	chr11:106973692-106973693	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183750222	chr11:106973706-106973707	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544538223	chr11:106973728-106973729	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79238197	chr11:106973730-106973731	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs1840568	chr11:106973788-106973789	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186887325	chr11:106973789-106973790	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559990756	chr11:106973794-106973795	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191784950	chr11:106973819-106973820	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549271988	chr11:106973820-106973821	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561163569	chr11:106973862-106973863	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139026530	chr11:106973875-106973876	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs34657554	chr11:106973879-106973880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184995221	chr11:106973883-106973884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571642837	chr11:106973899-106973900	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538644070	chr11:106973900-106973901	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373055210	chr11:106973934-106973935	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574011987	chr11:106973950-106973951	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565999180	chr11:106973951-106973952	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2462397	chr11:106973966-106973967	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11824598	chr11:106973982-106973983	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555241712	chr11:106973985-106973986	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs2465776	chr11:106974038-106974039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538069667	chr11:106974069-106974070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556485582	chr11:106974172-106974173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578034523	chr11:106974183-106974184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1598456	chr11:106974257-106974258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190278675	chr11:106974277-106974278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181880613	chr11:106974291-106974292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372699759	chr11:106974356-106974357	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Renal cell carcinoma	21668985	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106962400-106962600	Weak transcription	Pancreas	Pancrea
2	chr11:106973400-106973600	Enhancers	HepG2	liver
3	chr11:106973400-106973800	Enhancers	Spleen	Spleen
4	chr11:106973400-106974200	Enhancers	Fetal Muscle Leg	muscle
5	chr11:106973600-106974000	Enhancers	Fetal Brain Female	brain
6	chr11:106973600-106974000	Flanking Active TSS	HepG2	liver
7	chr11:106973600-106974600	Enhancers	Fetal Heart	heart
8	chr11:106973600-106975000	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:106974000-106974200	Enhancers	HepG2	liver
10	chr11:106986800-106987600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:106987200-106987600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:106987400-106988800	Enhancers	Fetal Intestine Small	intestine
13	chr11:106987800-106988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:106988200-106991400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:106988800-106992600	Weak transcription	Fetal Intestine Small	intestine
16	chr11:106991400-106991800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:106991400-106992200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:106992200-106993800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:107001800-107003600	Enhancers	Fetal Intestine Large	intestine
20	chr11:107002200-107003200	Enhancers	Fetal Intestine Small	intestine

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