Variant report

Variant	esv3426519
Chromosome Location	chr2:180514391-180514819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564198528	chr2:180514426-180514427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533056864	chr2:180514454-180514455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550151217	chr2:180514567-180514568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570193297	chr2:180514617-180514618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535778504	chr2:180514673-180514674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549625972	chr2:180514696-180514697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565749616	chr2:180514779-180514780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10174391	chr2:180514780-180514781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557706305	chr2:180514796-180514797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541945504	chr2:180514811-180514812	Weak transcription Enhancers	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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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
Myelofibrosis	22110671	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180508400-180517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:180512200-180514600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:180512200-180516400	Weak transcription	Fetal Lung	lung
4	chr2:180513000-180517000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:180514600-180515600	Enhancers	Skeletal Muscle Male	skeletal muscle

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