Variant report

Variant	nsv979023
Chromosome Location	chr2:74011888-74015199
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	BATF	chr2:74012316-74012516	GM12878	blood:	n/a	n/a
2	BATF	chr2:74012103-74012308	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:74012160-74012430	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:74014937-74015180	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:74014743-74014965	HepG2	liver:	n/a	n/a
6	EP300	chr2:74013651-74013822	GM12878	blood:	n/a	n/a
7	EP300	chr2:74012713-74013007	GM12878	blood:	n/a	n/a
8	EP300	chr2:74012244-74012413	GM12878	blood:	n/a	n/a
9	EP300	chr2:74012043-74012498	GM12878	blood:	n/a	n/a
10	FOSL2	chr2:74013496-74013820	HepG2	liver:	n/a	chr2:74013777-74013785
11	FOSL2	chr2:74013880-74014300	HepG2	liver:	n/a	n/a
12	FOSL2	chr2:74012176-74012583	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:74014907-74015319	HepG2	liver:	n/a	n/a
14	FOSL2	chr2:74014735-74015333	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:74012130-74012364	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:74011987-74012292	HepG2	liver:	n/a	n/a
17	GATA2	chr2:74011948-74012198	K562	blood:	n/a	n/a
18	GATA2	chr2:74012293-74012539	K562	blood:	n/a	n/a
19	GATA2	chr2:74014762-74015287	K562	blood:	n/a	chr2:74014808-74014818
20	IRF4	chr2:74013541-74013856	GM12878	blood:	n/a	n/a
21	IRF4	chr2:74011725-74012298	GM12878	blood:	n/a	n/a
22	IRF4	chr2:74014935-74015340	GM12878	blood:	n/a	n/a
23	IRF4	chr2:74012097-74012561	GM12878	blood:	n/a	n/a
24	JUND	chr2:74014972-74015273	HepG2	liver:	n/a	n/a
25	JUND	chr2:74012038-74012356	HepG2	liver:	n/a	n/a
26	NFIC	chr2:74011589-74011944	GM12878	blood:	n/a	n/a
27	PAX5	chr2:74012236-74012395	GM12878	blood:	n/a	n/a
28	PAX5	chr2:74014990-74015223	GM12878	blood:	n/a	n/a
29	PAX5	chr2:74013591-74013783	GM12878	blood:	n/a	n/a
30	PAX5	chr2:74012024-74012305	GM12878	blood:	n/a	n/a
31	PAX5	chr2:74012871-74013062	GM12878	blood:	n/a	n/a
32	PBX3	chr2:74012111-74012232	GM12878	blood:	n/a	n/a
33	PBX3	chr2:74012948-74013095	GM12878	blood:	n/a	n/a
34	PBX3	chr2:74011692-74012424	GM12878	blood:	n/a	n/a
35	PBX3	chr2:74014853-74015008	GM12878	blood:	n/a	n/a
36	POU2F2	chr2:74013551-74013931	GM12878	blood:	n/a	n/a
37	POU2F2	chr2:74011757-74011897	GM12878	blood:	n/a	n/a
38	POU2F2	chr2:74012066-74012491	GM12878	blood:	n/a	chr2:74012124-74012137
39	POU2F2	chr2:74012073-74012451	GM12891	blood:	n/a	chr2:74012124-74012137
40	POU2F2	chr2:74014827-74015326	GM12878	blood:	n/a	chr2:74015237-74015250 chr2:74015238-74015252
41	POU2F2	chr2:74012176-74012396	GM12878	blood:	n/a	n/a
42	RXRA	chr2:74014793-74015282	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr2:74013944-74014063	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr2:74012175-74012317	HepG2	liver:	n/a	n/a
45	SIX5	chr2:74012041-74012422	K562	blood:	n/a	n/a
46	SIX5	chr2:74012167-74012390	K562	blood:	n/a	n/a
47	SP1	chr2:74012086-74012351	GM12878	blood:	n/a	n/a
48	SPI1	chr2:74013459-74013607	K562	blood:	n/a	n/a
49	TCF12	chr2:74012092-74012419	GM12878	blood:	n/a	chr2:74012101-74012110
50	TCF3	chr2:74011963-74012404	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
DUSP11	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539561532	chr2:74011962-74011963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs547919804	chr2:74011963-74011964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557765294	chr2:74011983-74011984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566498938	chr2:74011989-74011990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376864375	chr2:74012196-74012197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369568166	chr2:74012268-74012269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs386647358	chr2:74012284-74012285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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