Variant report

Variant	esv2757432
Chromosome Location	chr11:25694609-25728161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:
2	chr11:25709860..25710784-chr18:64774033..64774666,2	MCF-7	breast:

Extended variants
information (count: 859 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530968256	chr11:25697431-25697432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143103517	chr11:25697464-25697465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181936179	chr11:25697490-25697491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568273299	chr11:25697500-25697501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11028842	chr11:25697501-25697502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75466073	chr11:25697619-25697620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372989098	chr11:25697654-25697655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539907848	chr11:25697665-25697666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185685689	chr11:25697705-25697706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369655890	chr11:25697741-25697742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534405802	chr11:25697838-25697839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113419229	chr11:25697849-25697850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556019351	chr11:25697863-25697864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550009243	chr11:25697882-25697883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574296231	chr11:25697893-25697894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377025677	chr11:25697916-25697917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568279596	chr11:25697935-25697936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189062424	chr11:25697962-25697963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201793676	chr11:25697969-25697970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575208327	chr11:25698038-25698039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535612185	chr11:25698042-25698043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565983562	chr11:25698063-25698064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377670457	chr11:25698135-25698136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528231237	chr11:25698187-25698188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546429266	chr11:25698194-25698195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373736443	chr11:25698210-25698211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75800902	chr11:25698229-25698230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3050027	chr11:25698230-25698231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561995172	chr11:25698250-25698251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140154091	chr11:25698251-25698252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551916359	chr11:25698309-25698310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570133357	chr11:25698310-25698311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539846562	chr11:25698318-25698319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537579447	chr11:25698324-25698325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145799088	chr11:25698341-25698342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138388536	chr11:25698345-25698346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57781328	chr11:25698347-25698348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397958440	chr11:25698351-25698352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181452765	chr11:25698369-25698370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374793582	chr11:25698374-25698375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75388106	chr11:25698381-25698382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185549101	chr11:25698400-25698401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534386492	chr11:25698436-25698437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539723847	chr11:25698438-25698439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143097146	chr11:25698592-25698593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189966647	chr11:25698649-25698650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538119420	chr11:25698665-25698666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555889764	chr11:25698694-25698695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556837942	chr11:25698767-25698768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574845803	chr11:25698786-25698787	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
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	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25697400-25698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:25698000-25698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:25705200-25705600	Enhancers	Fetal Brain Male	brain
9	chr11:25713000-25713400	Enhancers	Brain Germinal Matrix	brain
10	chr11:25716200-25718200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:25718200-25718800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:25718400-25718800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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