Variant report

Variant	esv3349358
Chromosome Location	chr11:104344292-104346240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564555292	chr11:104344803-104344804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11226375	chr11:104344807-104344808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183089328	chr11:104344824-104344825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141714966	chr11:104344857-104344858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529454729	chr11:104344860-104344861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543289876	chr11:104344945-104344946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7484233	chr11:104345200-104345201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7484234	chr11:104345202-104345203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559772138	chr11:104345203-104345204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76439914	chr11:104345204-104345205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535775771	chr11:104345206-104345207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567599538	chr11:104345344-104345345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535997448	chr11:104345371-104345372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555681511	chr11:104345379-104345380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566197928	chr11:104345394-104345395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574790132	chr11:104345422-104345423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375984111	chr11:104345437-104345438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76703602	chr11:104345450-104345451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188726164	chr11:104345514-104345515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1471924	chr11:104345561-104345562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572954136	chr11:104345593-104345594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34828498	chr11:104345625-104345626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557782364	chr11:104345634-104345635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544234939	chr11:104345683-104345684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193198521	chr11:104345692-104345693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574276241	chr11:104345753-104345754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183373731	chr11:104345783-104345784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188334974	chr11:104345808-104345809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528565558	chr11:104345816-104345817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191686069	chr11:104345823-104345824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114608867	chr11:104345878-104345879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577230476	chr11:104345965-104345966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545885651	chr11:104345978-104345979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530809887	chr11:104345980-104345981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550958371	chr11:104346000-104346001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567409246	chr11:104346012-104346013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149193781	chr11:104346074-104346075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35125769	chr11:104346086-104346087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398017405	chr11:104346093-104346094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199540971	chr11:104346094-104346095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112522555	chr11:104346095-104346096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546361748	chr11:104346105-104346106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566309101	chr11:104346118-104346119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575940098	chr11:104346140-104346141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56091118	chr11:104346162-104346163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558359468	chr11:104346181-104346182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183792382	chr11:104346192-104346193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578202511	chr11:104346195-104346196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104344800-104345000	Enhancers	Ovary	ovary
2	chr11:104345200-104346800	Weak transcription	Ovary	ovary
3	chr11:104345800-104346000	Enhancers	Stomach Mucosa	stomach
4	chr11:104346000-104346600	Weak transcription	Stomach Mucosa	stomach

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