Variant report

Variant	esv3352907
Chromosome Location	chr2:183354672-183354804
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	chr2:183344989..183346517-chr2:183352874..183355064,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574470080	chr2:183354679-183354680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116637159	chr2:183354681-183354682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1594306	chr2:183354683-183354684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs76823263	chr2:183354685-183354686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369185261	chr2:183354712-183354713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371345002	chr2:183354714-183354715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375836377	chr2:183354715-183354716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199545201	chr2:183354746-183354747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372206381	chr2:183354748-183354749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200412734	chr2:183354782-183354783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77148264	chr2:183354784-183354785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148834821	chr2:183354788-183354789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183347800-183355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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