Variant report

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538937784	chr2:191002559-191002560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377052488	chr2:191002584-191002585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs785223	chr2:191002589-191002590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs785222	chr2:191002598-191002599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs71023797	chr2:191002633-191002634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180858667	chr2:191002648-191002649	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190991800-191004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:190993200-191004800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190996600-191008200	Weak transcription	Aorta	Aorta
4	chr2:190997000-191006200	Weak transcription	Psoas Muscle	Psoas
5	chr2:190999200-191004000	Weak transcription	Ovary	ovary
6	chr2:191002200-191002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:191002200-191002600	Enhancers	Adipose Nuclei	Adipose
8	chr2:191002200-191002600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:191002200-191002600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:191002200-191002800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:191002200-191003000	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:191002200-191003400	Enhancers	Brain Anterior Caudate	brain
13	chr2:191002400-191002800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:191002400-191003200	Enhancers	HSMM	muscle

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