Variant report

Variant	esv3352815
Chromosome Location	chr2:189844980-189845243
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	chr2:189843846..189845833-chr2:189848371..189850816,2	K562	blood:
2	chr2:189460620..189463074-chr2:189843714..189846986,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190551540	chr2:189844980-189844981	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556458866	chr2:189844985-189844986	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577873721	chr2:189845006-189845007	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181786763	chr2:189845013-189845014	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374139352	chr2:189845044-189845045	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs66831307	chr2:189845123-189845124	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370500859	chr2:189845125-189845126	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373191712	chr2:189845130-189845131	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553951191	chr2:189845230-189845231	Weak transcription Active TSS Enhancers Flanking Active TSS	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
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189838200-189846000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189838200-189849400	Active TSS	Fetal Muscle Leg	muscle
3	chr2:189838400-189845000	Active TSS	HSMMtube	muscle
4	chr2:189839400-189858000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189841400-189864000	Weak transcription	Left Ventricle	heart
6	chr2:189841800-189875200	Weak transcription	Colonic Mucosa	Colon
7	chr2:189842400-189866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:189843000-189849400	Weak transcription	Placenta	Placenta
9	chr2:189843200-189845000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:189843400-189861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:189843600-189845000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:189843600-189847200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:189843600-189874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:189844400-189849400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:189844400-189866200	Weak transcription	Psoas Muscle	Psoas
16	chr2:189844600-189845400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:189844600-189845800	Weak transcription	Fetal Lung	lung
18	chr2:189844600-189847400	Weak transcription	Right Atrium	heart
19	chr2:189844600-189849400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:189844600-189859000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:189844800-189845200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:189844800-189845600	Weak transcription	HSMM	muscle
23	chr2:189844800-189845600	Active TSS	NHDF-Ad	bronchial
24	chr2:189844800-189845800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:189844800-189845800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:189844800-189845800	Weak transcription	Fetal Stomach	stomach
27	chr2:189844800-189845800	Weak transcription	NHLF	lung
28	chr2:189844800-189846000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:189844800-189846200	Weak transcription	Adipose Nuclei	Adipose
30	chr2:189844800-189846200	Enhancers	Osteobl	bone
31	chr2:189844800-189847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:189844800-189847200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:189844800-189847400	Weak transcription	Aorta	Aorta
34	chr2:189844800-189848200	Weak transcription	NH-A	brain
35	chr2:189844800-189849200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:189844800-189849400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:189844800-189849400	Weak transcription	Ovary	ovary
38	chr2:189844800-189849400	Weak transcription	A549	lung
39	chr2:189844800-189850800	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:189844800-189851400	Weak transcription	Fetal Kidney	kidney
41	chr2:189844800-189857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:189845000-189845400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:189845000-189847200	Weak transcription	HSMMtube	muscle
44	chr2:189845200-189845600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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