Variant report

Variant	esv1762131
Chromosome Location	chr11:34358443-34358444
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	chr11:34283475..34285529-chr11:34358260..34360841,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 77 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71457335	chr11:34358444-34358445	Weak transcription Enhancers	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
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34351800-34363800	Weak transcription	Left Ventricle	heart
2	chr11:34352600-34363800	Weak transcription	Gastric	stomach
3	chr11:34352800-34358600	Enhancers	HepG2	liver
4	chr11:34353200-34360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:34353200-34365400	Weak transcription	Pancreas	Pancrea
6	chr11:34353400-34362800	Weak transcription	Right Atrium	heart
7	chr11:34353800-34360800	Weak transcription	HSMMtube	muscle
8	chr11:34354000-34358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:34354000-34360800	Weak transcription	HSMM	muscle
10	chr11:34354400-34360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:34354400-34362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:34354400-34363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:34354400-34366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:34354600-34358600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:34354600-34358600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:34354600-34362600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:34354600-34363000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:34354600-34363800	Weak transcription	NH-A	brain
19	chr11:34354800-34363000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:34355600-34358600	Weak transcription	Primary B cells from cord blood	blood
21	chr11:34355600-34360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:34355800-34358600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:34355800-34359400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:34355800-34360400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:34356200-34361800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:34356400-34360800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:34357000-34360600	Enhancers	A549	lung
28	chr11:34357400-34360000	Enhancers	Fetal Thymus	thymus
29	chr11:34357600-34360200	Weak transcription	Liver	Liver
30	chr11:34357600-34360400	Weak transcription	GM12878-XiMat	blood
31	chr11:34358000-34361000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:34358200-34359400	Enhancers	Thymus	Thymus
33	chr11:34358200-34362000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:34358400-34359600	Enhancers	Primary T cells from cord blood	blood
35	chr11:34358400-34360600	Enhancers	Primary neutrophils fromperipheralblood	blood

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