Variant report

Variant	nsv39709
Chromosome Location	chr11:33576658-33576692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11270310	chr11:33576658-33576659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201258109	chr11:33576688-33576689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199608553	chr11:33576690-33576691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
2	chr11:33563200-33585200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:33564800-33585000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:33565200-33583600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:33566800-33581000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:33567000-33578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:33567000-33579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:33567000-33581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:33568200-33606600	Weak transcription	HUVEC	blood vessel
10	chr11:33568400-33578400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:33568400-33578400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:33568400-33578400	Weak transcription	Osteobl	bone
13	chr11:33568400-33578600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:33568600-33576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:33569400-33577600	Weak transcription	Fetal Brain Female	brain
16	chr11:33569400-33578400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:33569400-33578400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:33569600-33578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:33569800-33605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:33571400-33581000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:33573000-33578600	Weak transcription	HSMMtube	muscle
22	chr11:33574000-33578800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:33574600-33581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:33575200-33578600	Weak transcription	HSMM	muscle
25	chr11:33575400-33589000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:33575600-33578400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:33575600-33579600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:33575800-33578200	Weak transcription	NHEK	skin
29	chr11:33575800-33581200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:33576000-33578000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:33576200-33578200	Weak transcription	HMEC	breast
32	chr11:33576200-33578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:33576400-33577200	Enhancers	NHDF-Ad	bronchial
34	chr11:33576400-33578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:33576400-33579000	Weak transcription	NH-A	brain

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