Variant report

Variant	esv3396869
Chromosome Location	chr11:106142842-106144590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77707589	chr11:106142861-106142862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545014074	chr11:106142868-106142869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558013931	chr11:106142896-106142897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191677409	chr11:106142901-106142902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565001152	chr11:106142938-106142939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144533162	chr11:106142939-106142940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146630113	chr11:106142951-106142952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10895938	chr11:106142959-106142960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs544933236	chr11:106142971-106142972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563026079	chr11:106143008-106143009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370843452	chr11:106143032-106143033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72989047	chr11:106143101-106143102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112089259	chr11:106143130-106143131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72989050	chr11:106143140-106143141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114713793	chr11:106143141-106143142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570488100	chr11:106143145-106143146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72989051	chr11:106143153-106143154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535464431	chr11:106143157-106143158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528067347	chr11:106143168-106143169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546250293	chr11:106143178-106143179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375288540	chr11:106143184-106143185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186731120	chr11:106143198-106143199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192606305	chr11:106143199-106143200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374458578	chr11:106143236-106143237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545912363	chr11:106143238-106143239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111495598	chr11:106143282-106143283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567733118	chr11:106143313-106143314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374950747	chr11:106143355-106143356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369099570	chr11:106143386-106143387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367904308	chr11:106143412-106143413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371983603	chr11:106143418-106143419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372108257	chr11:106143428-106143429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375370003	chr11:106143434-106143435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367696682	chr11:106143445-106143446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11603705	chr11:106143460-106143461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376473541	chr11:106143468-106143469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371417089	chr11:106143471-106143472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185676499	chr11:106143501-106143502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535324375	chr11:106143508-106143509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190156346	chr11:106143532-106143533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12804608	chr11:106143563-106143564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541228182	chr11:106143600-106143601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369978559	chr11:106143746-106143747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373862532	chr11:106143749-106143750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377197577	chr11:106143753-106143754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368808497	chr11:106143756-106143757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373043512	chr11:106143758-106143759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111650200	chr11:106143775-106143776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112250627	chr11:106143776-106143777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182012953	chr11:106143780-106143781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106141600-106143200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:106141600-106143200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:106141800-106143000	Enhancers	NHDF-Ad	bronchial
4	chr11:106142200-106143000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:106142200-106143000	Enhancers	NH-A	brain
6	chr11:106142400-106143000	Enhancers	HSMM	muscle
7	chr11:106142600-106143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:106142800-106146000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:106143000-106145800	Weak transcription	NH-A	brain
10	chr11:106143000-106147200	Weak transcription	NHDF-Ad	bronchial
11	chr11:106143000-106151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:106143200-106145600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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