Variant report

Variant	esv3393532
Chromosome Location	chr2:116043732-116044780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141340141	chr2:116043732-116043733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545630233	chr2:116043738-116043739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376060164	chr2:116043775-116043776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190145844	chr2:116043819-116043820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182038714	chr2:116043856-116043857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541339587	chr2:116043941-116043942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115582031	chr2:116043998-116043999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370816648	chr2:116044005-116044006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186416973	chr2:116044040-116044041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36156428	chr2:116044057-116044058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200178210	chr2:116044064-116044065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70941040	chr2:116044068-116044069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11123294	chr2:116044069-116044070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57294144	chr2:116044077-116044078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60213155	chr2:116044078-116044079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59779482	chr2:116044079-116044080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60873127	chr2:116044082-116044083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs70941041	chr2:116044089-116044090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201209703	chr2:116044102-116044103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568213243	chr2:116044103-116044104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7600222	chr2:116044118-116044119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549845431	chr2:116044122-116044123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77266913	chr2:116044237-116044238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555026615	chr2:116044288-116044289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375634167	chr2:116044310-116044311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552309921	chr2:116044373-116044374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565754929	chr2:116044433-116044434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371363438	chr2:116044459-116044460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534891362	chr2:116044496-116044497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74618683	chr2:116044511-116044512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568048009	chr2:116044553-116044554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149628763	chr2:116044557-116044558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7562421	chr2:116044587-116044588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571974422	chr2:116044597-116044598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111309932	chr2:116044654-116044655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114095407	chr2:116044659-116044660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144396487	chr2:116044740-116044741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116043000-116051600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:116043400-116044400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:116043400-116052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:116044400-116044600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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