Variant report

Variant	nsv979225
Chromosome Location	chr2:95390277-95396635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:95391380-95391530	K562	blood:	n/a	n/a
2	CTCF	chr2:95393978-95394077	GM13977	blood:	n/a	n/a
3	EBF1	chr2:95390757-95391050	GM12878	blood:	n/a	chr2:95390922-95390931 chr2:95390920-95390933 chr2:95390922-95390932
4	EBF1	chr2:95390793-95391015	GM12878	blood:	n/a	chr2:95390922-95390931 chr2:95390920-95390933 chr2:95390922-95390932
5	POU2F2	chr2:95390157-95390478	GM12878	blood:	n/a	n/a
6	SPI1	chr2:95390874-95391261	GM12878	blood:	n/a	n/a
7	TCF3	chr2:95394004-95394251	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CNN2P11	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10184908	chr2:95391243-95391244	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566526931	chr2:95391266-95391267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77305441	chr2:95391342-95391343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs36065156	chr2:95391361-95391362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533573603	chr2:95391372-95391373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561603880	chr2:95391381-95391382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573442333	chr2:95391387-95391388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552178326	chr2:95391393-95391394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570097408	chr2:95391407-95391408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538986825	chr2:95391421-95391422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540853214	chr2:95391442-95391443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564929855	chr2:95391451-95391452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557226203	chr2:95391458-95391459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575434891	chr2:95391464-95391465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536810512	chr2:95391471-95391472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532221445	chr2:95391483-95391484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573317873	chr2:95391486-95391487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550447238	chr2:95391496-95391497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540358186	chr2:95391500-95391501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373632238	chr2:95391506-95391507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79316637	chr2:95391530-95391531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs544522189	chr2:95391535-95391536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562732383	chr2:95391541-95391542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529864126	chr2:95391554-95391555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562481053	chr2:95391557-95391558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs13389674	chr2:95391568-95391569	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183045237	chr2:95391570-95391571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551845631	chr2:95391575-95391576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570157295	chr2:95391579-95391580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562454904	chr2:95393999-95394000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs146219357	chr2:95394011-95394012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564728162	chr2:95394055-95394056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531954698	chr2:95394112-95394113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550075234	chr2:95394212-95394213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562284901	chr2:95394224-95394225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	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
Breast cancer	21785460	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95391200-95391600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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