Variant report

Variant	esv1050706
Chromosome Location	chr2:188480852-188480859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
2	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:
3	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
4	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
5	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 49 )

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	rs67214938	chr2:188480853-188480854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374883082	chr2:188480856-188480857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188479200-188482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:188479400-188484200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:188479400-188485200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:188479400-188485400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:188479800-188483600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:188480000-188481000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:188480000-188482600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:188480200-188481000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:188480200-188481200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:188480200-188483400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:188480200-188484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:188480400-188482000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:188480400-188482200	Weak transcription	HSMM	muscle
14	chr2:188480400-188482600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:188480400-188483200	Weak transcription	Ovary	ovary
16	chr2:188480400-188484400	Enhancers	Brain Germinal Matrix	brain
17	chr2:188480600-188482600	Weak transcription	HSMMtube	muscle
18	chr2:188480600-188483800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:188480800-188481000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:188480800-188481800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:188480800-188482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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