Variant report

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	rs148506025	chr2:186294307-186294308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186291000-186295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:186291200-186297800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:186292000-186296600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:186292000-186297800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:186292000-186297800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:186292000-186298000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:186292000-186298200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:186292000-186298200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:186293000-186298200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:186293000-186298200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:186293200-186295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:186293200-186295600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:186293200-186297600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:186293200-186297800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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