Variant report

Variant	esv3357239
Chromosome Location	chr11:49309776-49314974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs190723068	chr11:49309806-49309807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567501784	chr11:49309852-49309853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536697583	chr11:49309866-49309867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181050633	chr11:49309921-49309922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566852345	chr11:49309922-49309923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377154484	chr11:49309934-49309935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557316969	chr11:49309971-49309972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575443284	chr11:49310002-49310003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573914140	chr11:49310018-49310019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17556033	chr11:49310051-49310052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs545172452	chr11:49310062-49310063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563268019	chr11:49310115-49310116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78631100	chr11:49310174-49310175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370635045	chr11:49310248-49310249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10769570	chr11:49310302-49310303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555204708	chr11:49310316-49310317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185702463	chr11:49310324-49310325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560459647	chr11:49310353-49310354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572041321	chr11:49310459-49310460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540803552	chr11:49310461-49310462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532417766	chr11:49310558-49310559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190066500	chr11:49310561-49310562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562630333	chr11:49310564-49310565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531535530	chr11:49310583-49310584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550791713	chr11:49310646-49310647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563984120	chr11:49310661-49310662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567787516	chr11:49310672-49310673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11040317	chr11:49310674-49310675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546561967	chr11:49310767-49310768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566543125	chr11:49310847-49310848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538906790	chr11:49310849-49310850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117699287	chr11:49310856-49310857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182718140	chr11:49310898-49310899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7925896	chr11:49310952-49310953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554355303	chr11:49310981-49310982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574505954	chr11:49310995-49310996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186594151	chr11:49311038-49311039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553766640	chr11:49311056-49311057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7939300	chr11:49311134-49311135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7939316	chr11:49311208-49311209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560072542	chr11:49311285-49311286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201242254	chr11:49311305-49311306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562817228	chr11:49311410-49311411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16914263	chr11:49311418-49311419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145052597	chr11:49311499-49311500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561756487	chr11:49311551-49311552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191961143	chr11:49311568-49311569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546700758	chr11:49311577-49311578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535321931	chr11:49311584-49311585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532419623	chr11:49311694-49311695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:49309200-49313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:49309600-49310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:49310000-49310200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:49310200-49313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:49313800-49314200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:49313800-49314600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:49313800-49314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:49314000-49314800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:49314400-49314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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