Variant report

Variant	nsv963773
Chromosome Location	chr2:212638550-212645592
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	chr2:212640759-212640912	GM12878	blood:	n/a	n/a
2	BATF	chr2:212640753-212640935	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:212640745-212640924	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:212640762-212640953	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:212640609-212641064	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:212644451-212644746	HepG2	liver:	n/a	n/a
7	CTCF	chr2:212643515-212643549	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:212638993-212639049	GM13976	blood:	n/a	n/a
9	CTCF	chr2:212642980-212643130	HRE	kidney:	n/a	n/a
10	EBF1	chr2:212640763-212640907	GM12878	blood:	n/a	n/a
11	ELK1	chr2:212643645-212643687	Hela-S3	cervix:	n/a	n/a
12	EP300	chr2:212640701-212640928	GM12878	blood:	n/a	n/a
13	EP300	chr2:212640753-212640904	GM12878	blood:	n/a	n/a
14	FOS	chr2:212641414-212641589	MCF10A-Er-Src	breast:	n/a	chr2:212641474-212641483 chr2:212641475-212641484 chr2:212641474-212641484 chr2:212641475-212641482 chr2:212641475-212641483
15	FOSL2	chr2:212640686-212640926	HepG2	liver:	n/a	n/a
16	FOSL2	chr2:212640721-212640950	HepG2	liver:	n/a	n/a
17	GABPA	chr2:212640755-212640915	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr2:212640754-212640886	Hela-S3	cervix:	n/a	n/a
19	GATA2	chr2:212640749-212640960	K562	blood:	n/a	n/a
20	HEY1	chr2:212640715-212640922	K562	blood:	n/a	n/a
21	HEY1	chr2:212640740-212640928	HepG2	liver:	n/a	n/a
22	HEY1	chr2:212640707-212640892	HepG2	liver:	n/a	n/a
23	JUND	chr2:212640744-212640915	HepG2	liver:	n/a	n/a
24	JUND	chr2:212640783-212640888	HepG2	liver:	n/a	n/a
25	JUND	chr2:212641318-212641650	HepG2	liver:	n/a	chr2:212641474-212641483 chr2:212641475-212641484 chr2:212641474-212641484 chr2:212641475-212641482 chr2:212641473-212641484 chr2:212641475-212641483
26	MYC	chr2:212641083-212641141	H1-hESC	embryonic stem cell:	n/a	n/a
27	PAX5	chr2:212640713-212640958	GM12878	blood:	n/a	n/a
28	PAX5	chr2:212640773-212640899	GM12878	blood:	n/a	n/a
29	PAX5	chr2:212640726-212640924	GM12878	blood:	n/a	n/a
30	PAX5	chr2:212640753-212640904	GM12878	blood:	n/a	n/a
31	PBX3	chr2:212640783-212640886	GM12878	blood:	n/a	n/a
32	PBX3	chr2:212640779-212640890	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:212644986-212645032	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:212640753-212640918	Hela-S3	cervix:	n/a	n/a
35	POU2F2	chr2:212640675-212640939	GM12878	blood:	n/a	n/a
36	POU2F2	chr2:212640754-212640908	GM12878	blood:	n/a	n/a
37	RXRA	chr2:212640547-212640948	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr2:212640783-212640882	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr2:212640760-212640920	HepG2	liver:	n/a	n/a
40	SIX5	chr2:212640738-212640934	GM12878	blood:	n/a	n/a
41	SIX5	chr2:212640720-212640918	K562	blood:	n/a	n/a
42	SP1	chr2:212640737-212640982	GM12878	blood:	n/a	n/a
43	SP1	chr2:212640742-212640974	HepG2	liver:	n/a	n/a
44	SP1	chr2:212640750-212640873	HepG2	liver:	n/a	n/a
45	SP1	chr2:212640712-212640930	GM12878	blood:	n/a	n/a
46	SPI1	chr2:212640771-212640919	K562	blood:	n/a	n/a
47	SPI1	chr2:212640743-212640910	GM12878	blood:	n/a	n/a
48	STAT3	chr2:212644508-212644605	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr2:212642474-212642576	MCF10A-Er-Src	breast:	n/a	n/a
50	TAF1	chr2:212640771-212640900	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000236007	TF binding region
MTND2P23	TF binding region

Extended variants
information (count: 181 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189769385	chr2:212638998-212638999	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs537968783	chr2:212639045-212639046	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs560262252	chr2:212639060-212639061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548913528	chr2:212639067-212639068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373055525	chr2:212639068-212639069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554921405	chr2:212639133-212639134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574720014	chr2:212639152-212639153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201415425	chr2:212639170-212639171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151002964	chr2:212639176-212639177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140892162	chr2:212639177-212639178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535754986	chr2:212640555-212640556	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs575765885	chr2:212640572-212640573	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs555241894	chr2:212640576-212640577	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs140479223	chr2:212640598-212640599	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs540860886	chr2:212640633-212640634	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs73069350	chr2:212640660-212640661	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143662840	chr2:212640709-212640710	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs543010671	chr2:212640721-212640722	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs563312516	chr2:212640729-212640730	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs552198596	chr2:212640745-212640746	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs542488482	chr2:212640746-212640747	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs562404068	chr2:212640789-212640790	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs114272413	chr2:212640790-212640791	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs548060559	chr2:212640793-212640794	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs570444817	chr2:212640807-212640808	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs564522892	chr2:212640815-212640816	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs533474127	chr2:212640816-212640817	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs73069352	chr2:212640831-212640832	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111648725	chr2:212640844-212640845	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs142024652	chr2:212640852-212640853	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs548849571	chr2:212640869-212640870	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs371636011	chr2:212640880-212640881	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs534464919	chr2:212640890-212640891	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs557539501	chr2:212640894-212640895	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs577285396	chr2:212640991-212640992	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs537172973	chr2:212641003-212641004	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs59568831	chr2:212641011-212641012	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144301484	chr2:212641026-212641027	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs199500212	chr2:212641028-212641029	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs73069355	chr2:212641040-212641041	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72948526	chr2:212641056-212641057	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112219013	chr2:212641324-212641325	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs534013154	chr2:212641346-212641347	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs529278760	chr2:212641364-212641365	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs375320813	chr2:212641365-212641366	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs181062174	chr2:212641386-212641387	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs185327761	chr2:212641449-212641450	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs534619584	chr2:212641452-212641453	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs55988377	chr2:212641454-212641455	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571399287	chr2:212641516-212641517	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212639000-212639200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:212642400-212648400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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