Variant report

Variant	esv3327301
Chromosome Location	chr11:26077276-26080074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184696293	chr11:26077279-26077280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534560289	chr11:26077284-26077285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188385039	chr11:26077293-26077294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7940463	chr11:26077310-26077311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs180858810	chr11:26077336-26077337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186558837	chr11:26077337-26077338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575772619	chr11:26077350-26077351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540058864	chr11:26077365-26077366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558335357	chr11:26077367-26077368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551033960	chr11:26077374-26077375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190863836	chr11:26077381-26077382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1472014	chr11:26077383-26077384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574330550	chr11:26077393-26077394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566993406	chr11:26079408-26079409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185513807	chr11:26079411-26079412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145575565	chr11:26079418-26079419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567840656	chr11:26079476-26079477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148870596	chr11:26079478-26079479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115950196	chr11:26079503-26079504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559791307	chr11:26079510-26079511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189926136	chr11:26079559-26079560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368922374	chr11:26079565-26079566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182277607	chr11:26079581-26079582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572859891	chr11:26079645-26079646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184950613	chr11:26079653-26079654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7927402	chr11:26079656-26079657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7927514	chr11:26079675-26079676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544552602	chr11:26079676-26079677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562786842	chr11:26079697-26079698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7942563	chr11:26079755-26079756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545424872	chr11:26079773-26079774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560499394	chr11:26079786-26079787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571240303	chr11:26079849-26079850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190731476	chr11:26079855-26079856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549456224	chr11:26079862-26079863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538207184	chr11:26079866-26079867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561353881	chr11:26079887-26079888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557641918	chr11:26079900-26079901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141283780	chr11:26079936-26079937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531945818	chr11:26079966-26079967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549931503	chr11:26080000-26080001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371865537	chr11:26080021-26080022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26077000-26077400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:26079400-26079600	ZNF genes & repeats	Fetal Kidney	kidney
3	chr11:26079600-26091600	Weak transcription	Fetal Kidney	kidney

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