Variant report

Variant	esv2386721
Chromosome Location	chr11:33537492-33538185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2756289	chr11:33537498-33537499	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180895413	chr11:33537566-33537567	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565935267	chr11:33537653-33537654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535670696	chr11:33537720-33537721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534940096	chr11:33537760-33537761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554716149	chr11:33537761-33537762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111911938	chr11:33537849-33537850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112456122	chr11:33537852-33537853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373309362	chr11:33537883-33537884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367543385	chr11:33537995-33537996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147907670	chr11:33538036-33538037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554421440	chr11:33538076-33538077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12803487	chr11:33538082-33538083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116229124	chr11:33538097-33538098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80226088	chr11:33538111-33538112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546138732	chr11:33538131-33538132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186347249	chr11:33538147-33538148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528729702	chr11:33538171-33538172	Enhancers Weak 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33531600-33538800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:33535200-33537600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:33535200-33538800	Enhancers	Fetal Brain Male	brain
4	chr11:33536600-33537600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:33536600-33537600	Enhancers	GM12878-XiMat	blood
6	chr11:33536800-33537600	Enhancers	Brain Angular Gyrus	brain
7	chr11:33536800-33537600	Enhancers	Osteobl	bone
8	chr11:33537000-33537600	Enhancers	HSMMtube	muscle
9	chr11:33537200-33537600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:33537400-33538600	Weak transcription	Fetal Brain Female	brain
11	chr11:33537600-33539000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:33537600-33544400	Weak transcription	GM12878-XiMat	blood

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