Variant report

Variant	esv3384298
Chromosome Location	chr2:205441512-205442091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555897129	chr2:205441527-205441528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180683248	chr2:205441533-205441534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76355089	chr2:205441578-205441579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559596084	chr2:205441594-205441595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34425059	chr2:205441618-205441619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76253364	chr2:205441642-205441643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527935957	chr2:205441648-205441649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544991996	chr2:205441654-205441655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73057275	chr2:205441670-205441671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530990022	chr2:205441684-205441685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186070420	chr2:205441687-205441688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1374713	chr2:205441717-205441718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140375982	chr2:205441727-205441728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538419335	chr2:205441757-205441758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554440068	chr2:205441758-205441759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528260573	chr2:205441760-205441761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369723864	chr2:205441796-205441797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145607830	chr2:205441800-205441801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571565167	chr2:205441822-205441823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115747034	chr2:205441841-205441842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190243672	chr2:205441869-205441870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535484828	chr2:205441894-205441895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553762237	chr2:205441950-205441951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201489327	chr2:205442070-205442071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61100244	chr2:205442072-205442073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536308263	chr2:205442086-205442087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205425800-205454400	Weak transcription	HSMM	muscle
2	chr2:205438800-205448600	Weak transcription	Left Ventricle	heart
3	chr2:205438800-205458000	Weak transcription	Gastric	stomach
4	chr2:205439000-205444200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:205439400-205444000	Weak transcription	Pancreas	Pancrea
6	chr2:205439600-205444000	Weak transcription	Ovary	ovary
7	chr2:205439600-205450600	Weak transcription	Aorta	Aorta
8	chr2:205440600-205443600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:205441000-205446200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:205441000-205446400	Weak transcription	Fetal Intestine Large	intestine
11	chr2:205441000-205454600	Weak transcription	Psoas Muscle	Psoas
12	chr2:205441200-205441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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