Variant report

Variant	esv3361504
Chromosome Location	chr2:125165312-125173737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187319891	chr2:125165339-125165340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs115692376	chr2:125165361-125165362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191639906	chr2:125165397-125165398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs36086505	chr2:125165399-125165400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557884778	chr2:125165414-125165415	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577733742	chr2:125165420-125165421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537112391	chr2:125165439-125165440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556968469	chr2:125165442-125165443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115416379	chr2:125165451-125165452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145359720	chr2:125165480-125165481	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62171043	chr2:125165481-125165482	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149183274	chr2:125165484-125165485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545294654	chr2:125165500-125165501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566207329	chr2:125165509-125165510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534795728	chr2:125165566-125165567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551391687	chr2:125165584-125165585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571329303	chr2:125165585-125165586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190123136	chr2:125165597-125165598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528889547	chr2:125165600-125165601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548926152	chr2:125165601-125165602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs193112933	chr2:125165608-125165609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534887216	chr2:125165611-125165612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551300526	chr2:125165619-125165620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537013908	chr2:125165652-125165653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185813311	chr2:125165663-125165664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557031619	chr2:125165679-125165680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557242486	chr2:125165721-125165722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113171561	chr2:125165725-125165726	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573738765	chr2:125165728-125165729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536259655	chr2:125165738-125165739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6749922	chr2:125165742-125165743	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573473941	chr2:125165752-125165753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545669325	chr2:125165753-125165754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565507912	chr2:125165764-125165765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574206184	chr2:125165782-125165783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377145334	chr2:125165800-125165801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563384674	chr2:125165801-125165802	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536890734	chr2:125165826-125165827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542278091	chr2:125165827-125165828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370421799	chr2:125165831-125165832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs559264511	chr2:125165842-125165843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2565753	chr2:125165843-125165844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551238123	chr2:125165860-125165861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368222488	chr2:125165867-125165868	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530609277	chr2:125165871-125165872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371042195	chr2:125165894-125165895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550319435	chr2:125165911-125165912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567443503	chr2:125165915-125165916	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536716199	chr2:125165928-125165929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs56376945	chr2:125165931-125165932	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125165000-125165800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:125165000-125166000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr2:125165200-125165800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:125165400-125165800	Active TSS	HUES6 Cell Line	embryonic stem cell

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