Variant report

Variant	esv3413518
Chromosome Location	chr2:180422165-180422359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370353278	chr2:180422176-180422177	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs3112934	chr2:180422191-180422192	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535012216	chr2:180422218-180422219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186444834	chr2:180422227-180422228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538454389	chr2:180422242-180422243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71029820	chr2:180422243-180422244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191279955	chr2:180422251-180422252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540147234	chr2:180422268-180422269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555875926	chr2:180422284-180422285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537004358	chr2:180422290-180422291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557430169	chr2:180422293-180422294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574090817	chr2:180422307-180422308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202236450	chr2:180422308-180422309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571424879	chr2:180422319-180422320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5005267	chr2:180422330-180422331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7574368	chr2:180422336-180422337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572243619	chr2:180422359-180422360	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
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
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
3	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:180417200-180423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:180419000-180422400	Weak transcription	Fetal Kidney	kidney
7	chr2:180419000-180422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:180420800-180422400	Weak transcription	Liver	Liver
9	chr2:180420800-180425800	Weak transcription	Right Atrium	heart
10	chr2:180421400-180423400	Weak transcription	Psoas Muscle	Psoas
11	chr2:180421600-180426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:180422000-180422200	Flanking Active TSS	HepG2	liver
13	chr2:180422000-180422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:180422200-180422400	Enhancers	HepG2	liver

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