Variant report

Variant	esv1710316
Chromosome Location	chr11:33118529-33118530
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	chr11:33118081..33120716-chr11:33128955..33131930,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 79 )

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	rs201347951	chr11:33118530-33118531	Weak transcription Strong transcription	n/a	n/a	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	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:33085600-33122000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:33086200-33122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:33086400-33127400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:33086600-33119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:33087200-33129400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:33087800-33138000	Weak transcription	Stomach Mucosa	stomach
9	chr11:33094400-33121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:33094800-33119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:33095000-33126800	Weak transcription	Right Ventricle	heart
12	chr11:33095200-33119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:33098000-33121400	Weak transcription	Small Intestine	intestine
14	chr11:33098000-33122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:33098800-33127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:33099200-33129400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:33099400-33118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:33100600-33121400	Weak transcription	Aorta	Aorta
19	chr11:33100800-33122000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:33100800-33123800	Weak transcription	Fetal Brain Male	brain
21	chr11:33101600-33122400	Weak transcription	Esophagus	oesophagus
22	chr11:33103600-33128600	Weak transcription	Gastric	stomach
23	chr11:33104200-33128400	Weak transcription	Pancreas	Pancrea
24	chr11:33104800-33122600	Weak transcription	Spleen	Spleen
25	chr11:33104800-33133600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:33105000-33118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:33106800-33119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:33106800-33131600	Weak transcription	Psoas Muscle	Psoas
29	chr11:33107000-33119400	Weak transcription	Thymus	Thymus
30	chr11:33107200-33121400	Weak transcription	Lung	lung
31	chr11:33107200-33124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:33107600-33125600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:33107600-33131200	Weak transcription	Fetal Heart	heart
34	chr11:33107800-33119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:33107800-33122000	Weak transcription	Brain Substantia Nigra	brain
36	chr11:33107800-33125400	Weak transcription	Colonic Mucosa	Colon
37	chr11:33107800-33131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:33108000-33119400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:33108200-33121400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:33108600-33122000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:33108800-33119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:33108800-33119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:33108800-33119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:33109000-33119400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:33109000-33119400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:33109000-33119600	Weak transcription	NHLF	lung
47	chr11:33109000-33122200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:33109400-33119600	Weak transcription	HSMMtube	muscle
49	chr11:33109600-33119400	Weak transcription	NHEK	skin
50	chr11:33110400-33129800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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