Variant report

Variant	esv3331976
Chromosome Location	chr2:190269787-190269968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77072992	chr2:190269827-190269828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564427061	chr2:190269830-190269831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144928777	chr2:190269862-190269863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6728055	chr2:190269918-190269919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145844319	chr2:190269932-190269933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60823373	chr2:190269958-190269959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557479789	chr2:190269961-190269962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78410817	chr2:190269962-190269963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199686591	chr2:190269964-190269965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs398060887	chr2:190269965-190269966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80127646	chr2:190269966-190269967	Weak transcription Enhancers	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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190258800-190272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:190258800-190272600	Weak transcription	Aorta	Aorta
3	chr2:190268000-190272400	Weak transcription	NHEK	skin
4	chr2:190268200-190271400	Weak transcription	HMEC	breast
5	chr2:190268200-190272400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:190268200-190276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:190268400-190271200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:190268400-190271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:190268400-190271200	Weak transcription	Osteobl	bone
10	chr2:190268800-190269800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:190268800-190271400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:190268800-190271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:190269000-190271200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:190269200-190275000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:190269800-190271600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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