Variant report

Variant	esv2541669
Chromosome Location	chr11:33049149-33049150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33037810..33039404-chr11:33046604..33049179,2	K562	blood:
2	chr11:33040431..33043314-chr11:33047289..33049543,3	K562	blood:
3	chr11:33038166..33041060-chr11:33046643..33049387,2	MCF-7	breast:
4	chr11:33047529..33049150-chr11:33058361..33061018,2	MCF-7	breast:
5	chr11:33043473..33045913-chr11:33047452..33049632,3	K562	blood:
6	chr11:33049034..33053308-chr11:33058288..33062133,5	K562	blood:
7	chr11:33043183..33045594-chr11:33046266..33049632,4	K562	blood:

Variant related genes	Relation type
ENSG00000176148	chromatin interactions

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	rs139896462	chr11:33049150-33049151	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33038200-33060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33038800-33049800	Weak transcription	HMEC	breast
3	chr11:33039200-33053800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:33039200-33060200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:33039400-33049800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:33039400-33050000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:33039400-33060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:33039600-33060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:33040800-33049400	Weak transcription	Psoas Muscle	Psoas
10	chr11:33040800-33060200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:33040800-33060400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:33041000-33052400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:33041400-33060200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:33043400-33049600	Weak transcription	HSMMtube	muscle
15	chr11:33043400-33049800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:33043600-33060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:33043800-33049600	Weak transcription	Fetal Lung	lung
18	chr11:33043800-33052400	Weak transcription	Hela-S3	cervix
19	chr11:33043800-33056600	Weak transcription	A549	lung
20	chr11:33044000-33049600	Weak transcription	HepG2	liver
21	chr11:33044400-33050000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:33044400-33056800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:33045200-33056800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:33045200-33060600	Weak transcription	Small Intestine	intestine
25	chr11:33045800-33058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:33046000-33057000	Strong transcription	HSMM	muscle
27	chr11:33046800-33049600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:33046800-33050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:33046800-33051000	Weak transcription	Ovary	ovary
30	chr11:33046800-33054000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:33047000-33049600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:33047000-33060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:33047000-33060600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:33047200-33049600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:33048000-33049400	Genic enhancers	Liver	Liver
36	chr11:33048200-33050000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:33048200-33050000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:33048200-33050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:33048200-33052400	Weak transcription	K562	blood
40	chr11:33048400-33049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:33048400-33050400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:33048600-33049200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:33048600-33050400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:33048600-33050400	Enhancers	Osteobl	bone
45	chr11:33048600-33050600	Enhancers	NH-A	brain
46	chr11:33048800-33049600	Weak transcription	NHLF	lung
47	chr11:33048800-33050200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:33048800-33050400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:33048800-33050400	Enhancers	Fetal Intestine Small	intestine
50	chr11:33048800-33052400	Weak transcription	Fetal Muscle Trunk	muscle

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