Variant report

Variant	esv3474897
Chromosome Location	chr11:103914342-103919740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs185166771	chr11:103914389-103914390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540363657	chr11:103914417-103914418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77392305	chr11:103914451-103914452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531828985	chr11:103914513-103914514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76553562	chr11:103914516-103914517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562047539	chr11:103914552-103914553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536869353	chr11:103914578-103914579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114143224	chr11:103914613-103914614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143819777	chr11:103914623-103914624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529133143	chr11:103914651-103914652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373925238	chr11:103914659-103914660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374680506	chr11:103914667-103914668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148156192	chr11:103914671-103914672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142004928	chr11:103914748-103914749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190057550	chr11:103914752-103914753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539817223	chr11:103914764-103914765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562768951	chr11:103914769-103914770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570124100	chr11:103914804-103914805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116859841	chr11:103914811-103914812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371801511	chr11:103914813-103914814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565992448	chr11:103914875-103914876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181752532	chr11:103914916-103914917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531530366	chr11:103914917-103914918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577614450	chr11:103914977-103914978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543400188	chr11:103914981-103914982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10750683	chr11:103915013-103915014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573354452	chr11:103915025-103915026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185337705	chr11:103915091-103915092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561913826	chr11:103915120-103915121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145134492	chr11:103915124-103915125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570549175	chr11:103915292-103915293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34974666	chr11:103915326-103915327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541407366	chr11:103915387-103915388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138948065	chr11:103915388-103915389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35570444	chr11:103915389-103915390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376531861	chr11:103915395-103915396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533245017	chr11:103915493-103915494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190194393	chr11:103915514-103915515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570182532	chr11:103915538-103915539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529368993	chr11:103915548-103915549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112868243	chr11:103915559-103915560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565908386	chr11:103915574-103915575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534816029	chr11:103915590-103915591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180779570	chr11:103915635-103915636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571480572	chr11:103915652-103915653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536648996	chr11:103915654-103915655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369992350	chr11:103915685-103915686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs260811	chr11:103915739-103915740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139475926	chr11:103915755-103915756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574441782	chr11:103915766-103915767	Weak transcription	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
Prostate cancer	18632612	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103902200-103922800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:103908600-103920400	Weak transcription	Ovary	ovary
3	chr11:103912600-103914800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:103912600-103914800	Enhancers	Fetal Intestine Large	intestine
5	chr11:103914000-103914400	Enhancers	A549	lung
6	chr11:103914000-103914600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:103914000-103914600	Enhancers	Gastric	stomach
8	chr11:103914000-103914600	Enhancers	Pancreas	Pancrea
9	chr11:103914000-103914800	Enhancers	Fetal Intestine Small	intestine
10	chr11:103914000-103915000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:103914200-103914600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:103914200-103914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:103914200-103914600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:103914200-103914800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:103915000-103925600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:103917200-103917400	Enhancers	Fetal Brain Female	brain
17	chr11:103917400-103931000	Weak transcription	Fetal Brain Female	brain

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