Variant report

Variant	esv3419250
Chromosome Location	chr11:17063526-17066724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116183688	chr11:17063531-17063532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548099482	chr11:17063532-17063533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566512077	chr11:17063565-17063566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145570377	chr11:17063573-17063574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74893333	chr11:17063583-17063584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553144292	chr11:17063616-17063617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34968593	chr11:17063619-17063620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554961694	chr11:17063620-17063621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11529608	chr11:17063663-17063664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543706529	chr11:17063686-17063687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190219423	chr11:17063688-17063689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12417522	chr11:17063716-17063717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77211940	chr11:17063781-17063782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181086306	chr11:17063782-17063783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375223875	chr11:17063787-17063788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567988561	chr11:17063788-17063789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139957930	chr11:17063790-17063791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540820909	chr11:17063811-17063812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565382202	chr11:17063885-17063886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532058949	chr11:17063889-17063890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543927966	chr11:17063910-17063911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562114597	chr11:17063919-17063920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192331219	chr11:17063940-17063941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548143510	chr11:17064001-17064002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201333484	chr11:17064026-17064027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560397946	chr11:17064078-17064079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148946457	chr11:17064132-17064133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560118087	chr11:17064143-17064144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570688330	chr11:17064152-17064153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539107668	chr11:17064154-17064155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527359319	chr11:17064158-17064159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57644490	chr11:17064172-17064173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372666536	chr11:17064185-17064186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34987955	chr11:17064187-17064188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551111510	chr11:17064195-17064196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561471744	chr11:17064300-17064301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187454184	chr11:17064326-17064327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11024136	chr11:17064397-17064398	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs573260146	chr11:17064400-17064401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202172686	chr11:17064401-17064402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79582211	chr11:17064402-17064403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138683935	chr11:17064404-17064405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55724613	chr11:17064410-17064411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76918955	chr11:17064412-17064413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552335562	chr11:17064426-17064427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79113693	chr11:17064427-17064428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143722499	chr11:17064428-17064429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112020661	chr11:17064485-17064486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151071235	chr11:17064503-17064504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375883309	chr11:17064518-17064519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17059000-17067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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