Variant report

Variant	esv3370197
Chromosome Location	chr11:109084192-109086190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553083317	chr11:109084213-109084214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569123478	chr11:109084226-109084227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568298142	chr11:109084236-109084237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537779526	chr11:109084239-109084240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534126646	chr11:109084251-109084252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535637728	chr11:109084257-109084258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149744222	chr11:109084270-109084271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575450966	chr11:109084292-109084293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189055223	chr11:109084294-109084295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558880127	chr11:109084338-109084339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146677422	chr11:109084359-109084360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541159163	chr11:109084370-109084371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559410311	chr11:109084397-109084398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570926872	chr11:109084423-109084424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533614872	chr11:109084424-109084425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371696331	chr11:109084447-109084448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193293426	chr11:109084491-109084492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35133108	chr11:109084498-109084499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531200361	chr11:109084503-109084504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185493683	chr11:109084523-109084524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10890964	chr11:109084526-109084527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372385162	chr11:109084537-109084538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145373652	chr11:109084625-109084626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376098898	chr11:109084635-109084636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137920157	chr11:109084655-109084656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373484900	chr11:109084665-109084666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111639955	chr11:109084668-109084669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200703049	chr11:109084669-109084670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113250780	chr11:109084670-109084671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555733300	chr11:109084671-109084672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73004567	chr11:109084672-109084673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557750218	chr11:109084673-109084674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576864015	chr11:109084674-109084675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111374191	chr11:109084675-109084676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73549144	chr11:109084713-109084714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574550179	chr11:109084751-109084752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542073241	chr11:109084787-109084788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563877753	chr11:109084794-109084795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558146054	chr11:109084799-109084800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77959413	chr11:109084809-109084810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73549146	chr11:109084853-109084854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180738762	chr11:109084866-109084867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112564736	chr11:109084876-109084877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143319505	chr11:109084891-109084892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540683810	chr11:109084901-109084902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561778410	chr11:109084928-109084929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528965970	chr11:109085009-109085010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377469909	chr11:109085035-109085036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550526819	chr11:109085131-109085132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35508230	chr11:109085134-109085135	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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