Variant report

Variant	esv3412917
Chromosome Location	chr11:32491870-32492494
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	chr11:32486682..32489640-chr11:32492435..32494827,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9651595	chr11:32491882-32491883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567676714	chr11:32491884-32491885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530427539	chr11:32491895-32491896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141683499	chr11:32491993-32491994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201093729	chr11:32492000-32492001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200447824	chr11:32492002-32492003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60529828	chr11:32492003-32492004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9651596	chr11:32492004-32492005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563278357	chr11:32492073-32492074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530518251	chr11:32492128-32492129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186647249	chr11:32492129-32492130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149230760	chr11:32492148-32492149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144591343	chr11:32492160-32492161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566688785	chr11:32492164-32492165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535709824	chr11:32492196-32492197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555705778	chr11:32492238-32492239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113177223	chr11:32492246-32492247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374315219	chr11:32492255-32492256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544322835	chr11:32492260-32492261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3858459	chr11:32492265-32492266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546499781	chr11:32492290-32492291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571386779	chr11:32492293-32492294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548329752	chr11:32492297-32492298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3858460	chr11:32492447-32492448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191034524	chr11:32492470-32492471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32488400-32499200	Weak transcription	K562	blood
2	chr11:32491000-32493600	Weak transcription	Dnd41	blood

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