Variant report

Variant	nsv34581
Chromosome Location	chr11:33105982-33105985
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	chr11:33097286..33101981-chr11:33104595..33108523,4	K562	blood:
2	chr11:33060966..33062993-chr11:33105012..33106638,2	K562	blood:

Variant related genes	Relation type
ENSG00000176148	chromatin interactions
ENSG00000213713	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 79 )

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	rs10535595	chr11:33105982-33105983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150022328	chr11:33105983-33105984	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112556265	chr11:33105985-33105986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33062800-33107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:33078200-33109000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:33078600-33109600	Strong transcription	Dnd41	blood
6	chr11:33079400-33110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:33085200-33112000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:33085600-33107200	Weak transcription	K562	blood
9	chr11:33085600-33122000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:33086200-33122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:33086400-33127400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:33086600-33106400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:33086600-33119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:33086800-33107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:33087200-33109600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:33087200-33110800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:33087200-33113600	Strong transcription	Placenta	Placenta
18	chr11:33087200-33129400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:33087400-33107600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:33087400-33108200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:33087400-33108800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:33087400-33108800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:33087400-33109400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:33087400-33109400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:33087400-33109600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:33087400-33109800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:33087400-33109800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:33087600-33109600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:33087800-33111800	Strong transcription	A549	lung
30	chr11:33087800-33138000	Weak transcription	Stomach Mucosa	stomach
31	chr11:33089400-33113600	Strong transcription	Fetal Thymus	thymus
32	chr11:33090800-33106400	Weak transcription	Psoas Muscle	Psoas
33	chr11:33094400-33117600	Weak transcription	Fetal Kidney	kidney
34	chr11:33094400-33121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:33094600-33107200	Weak transcription	Fetal Heart	heart
36	chr11:33094800-33119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:33095000-33126800	Weak transcription	Right Ventricle	heart
38	chr11:33095200-33119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:33095400-33117400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:33097800-33117600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:33097800-33117800	Weak transcription	Hela-S3	cervix
42	chr11:33098000-33121400	Weak transcription	Small Intestine	intestine
43	chr11:33098000-33122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:33098800-33127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:33099000-33107000	Weak transcription	Colonic Mucosa	Colon
46	chr11:33099200-33106200	Weak transcription	NHLF	lung
47	chr11:33099200-33107200	Weak transcription	NHEK	skin
48	chr11:33099200-33114000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:33099200-33129400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:33099400-33118800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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