Variant report

Variant	esv1124847
Chromosome Location	chr11:32961514-32961515
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	chr11:32921334..32923209-chr11:32959403..32961555,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572685488	chr11:32961514-32961515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57098672	chr11:32961515-32961516	Weak transcription Strong transcription Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32948400-32962000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:32948400-32963200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:32950200-32968000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:32950400-32962600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:32950400-32994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:32951000-32962200	Strong transcription	Dnd41	blood
7	chr11:32951200-32962600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:32951600-32963200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr11:32952000-32963200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:32952200-32962600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:32952400-32968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:32952600-32961800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:32952800-32962000	Strong transcription	Primary B cells from cord blood	blood
14	chr11:32952800-32963200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:32953800-32978400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:32954000-32968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:32954200-32968000	Weak transcription	Fetal Stomach	stomach
18	chr11:32954400-32962000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:32954600-32971400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:32954600-32990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:32954800-32968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:32955000-32968600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:32955200-32961600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:32955200-32962400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:32955400-32994200	Weak transcription	Gastric	stomach
26	chr11:32955400-32994400	Weak transcription	Esophagus	oesophagus
27	chr11:32955600-32968000	Weak transcription	Pancreas	Pancrea
28	chr11:32955600-32987200	Weak transcription	Right Ventricle	heart
29	chr11:32955600-33000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:32955600-33003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:32956000-32975400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:32956200-32961600	Weak transcription	Fetal Heart	heart
33	chr11:32956200-32979400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:32956200-32994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:32956800-32968000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:32956800-32968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:32956800-32968000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:32956800-32975400	Weak transcription	Lung	lung
39	chr11:32956800-32975400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:32956800-32975400	Weak transcription	NHEK	skin
41	chr11:32956800-32977800	Weak transcription	Left Ventricle	heart
42	chr11:32956800-32977800	Weak transcription	Thymus	Thymus
43	chr11:32956800-32994200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:32957000-32969400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:32957000-32978400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:32957000-32978400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:32957200-32968000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:32957200-32968000	Weak transcription	Brain Substantia Nigra	brain
49	chr11:32957200-32968000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:32957200-32969400	Weak transcription	Primary B cells from peripheral blood	blood

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