Variant report

Variant	esv3392777
Chromosome Location	chr2:206127317-206127652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549488797	chr2:206127380-206127381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10202153	chr2:206127438-206127439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs535036706	chr2:206127443-206127444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369207159	chr2:206127459-206127460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181688014	chr2:206127463-206127464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538984145	chr2:206127470-206127471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557285738	chr2:206127477-206127478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575545105	chr2:206127516-206127517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113250656	chr2:206127524-206127525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542437543	chr2:206127544-206127545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112437097	chr2:206127572-206127573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572817139	chr2:206127574-206127575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540232298	chr2:206127575-206127576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564493444	chr2:206127609-206127610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545673681	chr2:206127615-206127616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10204712	chr2:206127621-206127622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
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
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206108400-206145200	Weak transcription	HSMM	muscle
3	chr2:206113400-206139800	Weak transcription	Pancreas	Pancrea
4	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
5	chr2:206126000-206127400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:206126400-206127600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:206126600-206127600	Enhancers	Osteobl	bone
8	chr2:206127000-206127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:206127200-206127400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:206127400-206128000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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