Variant report

Variant	esv3396200
Chromosome Location	chr11:109098642-109099755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542914028	chr11:109098643-109098644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370717030	chr11:109098655-109098656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375537684	chr11:109098657-109098658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368539534	chr11:109098658-109098659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370287859	chr11:109098660-109098661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375891790	chr11:109098661-109098662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111655419	chr11:109098678-109098679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71053826	chr11:109098685-109098686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373666337	chr11:109098686-109098687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571668173	chr11:109098708-109098709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111975088	chr11:109098734-109098735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574128124	chr11:109098736-109098737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7949198	chr11:109098753-109098754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544607813	chr11:109098760-109098761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71053827	chr11:109098780-109098781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373785852	chr11:109098798-109098799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12799552	chr11:109098800-109098801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112396451	chr11:109098810-109098811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11212993	chr11:109098822-109098823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71053828	chr11:109098832-109098833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71053829	chr11:109098862-109098863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563004319	chr11:109098867-109098868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200439134	chr11:109098905-109098906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545139219	chr11:109098928-109098929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12801511	chr11:109098935-109098936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185493131	chr11:109098965-109098966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549316312	chr11:109098988-109098989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561239904	chr11:109098990-109098991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188352018	chr11:109098995-109098996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111219008	chr11:109099014-109099015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111218973	chr11:109099017-109099018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549346721	chr11:109099021-109099022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577251242	chr11:109099022-109099023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571126328	chr11:109099027-109099028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538741008	chr11:109099053-109099054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547133505	chr11:109099059-109099060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565867581	chr11:109099072-109099073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368574925	chr11:109099250-109099251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536447682	chr11:109099289-109099290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554943004	chr11:109099295-109099296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7478752	chr11:109099389-109099390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7478757	chr11:109099421-109099422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576387625	chr11:109099439-109099440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7478760	chr11:109099453-109099454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537315428	chr11:109099475-109099476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7478776	chr11:109099485-109099486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7478721	chr11:109099526-109099527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7478725	chr11:109099558-109099559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7478743	chr11:109099590-109099591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7478745	chr11:109099622-109099623	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
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
Chronic lymphocytic leukemia	21546498	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
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
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:109068800-109108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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