Variant report

Variant	nsv947867
Chromosome Location	chr10:39029412-39067282
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	chr10:39056264-39056575	GM12878	blood:	n/a	chr10:39056419-39056430
2	BATF	chr10:39066194-39066341	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:39066112-39066389	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:39057780-39057946	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:39055155-39055331	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:39066172-39066370	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:39067039-39067285	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:39037900-39037952	A549	lung:	n/a	n/a
9	CTCF	chr10:39038829-39038908	LNCaP	prostate:	n/a	n/a
10	CTCF	chr10:39040660-39040679	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr10:39062460-39062511	GM10248	blood:	n/a	n/a
12	EBF1	chr10:39058913-39059126	GM12878	blood:	n/a	n/a
13	EBF1	chr10:39051970-39052126	GM12878	blood:	n/a	n/a
14	EP300	chr10:39066134-39066409	GM12878	blood:	n/a	chr10:39066164-39066174
15	EP300	chr10:39055105-39055340	GM12878	blood:	n/a	chr10:39055206-39055215
16	EP300	chr10:39066449-39066774	GM12878	blood:	n/a	n/a
17	EP300	chr10:39057630-39058234	GM12878	blood:	n/a	n/a
18	EP300	chr10:39053300-39053780	GM12878	blood:	n/a	chr10:39053310-39053324
19	FOS	chr10:39048030-39048048	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr10:39048012-39048048	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr10:39059468-39059798	HepG2	liver:	n/a	n/a
22	FOSL2	chr10:39053524-39053810	HepG2	liver:	n/a	n/a
23	FOSL2	chr10:39054980-39055386	HepG2	liver:	n/a	chr10:39055208-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055206-39055216
24	FOSL2	chr10:39047741-39048392	HepG2	liver:	n/a	chr10:39048064-39048075 chr10:39048067-39048075 chr10:39048066-39048076 chr10:39048065-39048077 chr10:39048066-39048076
25	FOSL2	chr10:39047876-39048538	HepG2	liver:	n/a	chr10:39048064-39048075 chr10:39048067-39048075 chr10:39048066-39048076 chr10:39048065-39048077 chr10:39048066-39048076
26	FOSL2	chr10:39053450-39053859	HepG2	liver:	n/a	n/a
27	FOSL2	chr10:39054913-39055362	HepG2	liver:	n/a	chr10:39055208-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055206-39055216
28	FOSL2	chr10:39062371-39062631	HepG2	liver:	n/a	n/a
29	FOSL2	chr10:39066900-39067381	HepG2	liver:	n/a	n/a
30	FOSL2	chr10:39066146-39066364	HepG2	liver:	n/a	n/a
31	FOSL2	chr10:39067018-39067312	HepG2	liver:	n/a	n/a
32	FOXA1	chr10:39048320-39048724	HepG2	liver:	n/a	n/a
33	FOXA1	chr10:39066838-39067565	HepG2	liver:	n/a	n/a
34	FOXA2	chr10:39047806-39048666	A549	lung:	n/a	n/a
35	GABPA	chr10:39035409-39035605	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr10:39066101-39066392	Hela-S3	cervix:	n/a	n/a
37	GABPA	chr10:39048050-39048334	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr10:39051960-39052158	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr10:39057600-39057736	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr10:39053663-39053782	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr10:39048048-39048262	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr10:39066204-39066331	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr10:39035470-39035614	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr10:39057857-39058084	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr10:39037477-39037764	K562	blood:	n/a	n/a
46	GATA2	chr10:39038305-39038667	K562	blood:	n/a	n/a
47	GATA2	chr10:39039407-39039684	K562	blood:	n/a	n/a
48	GATA2	chr10:39047756-39048080	K562	blood:	n/a	chr10:39048065-39048074
49	GATA2	chr10:39038935-39039176	K562	blood:	n/a	n/a
50	GATA2	chr10:39037938-39038277	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF37A-18	chr10:39052289-39052613	NONHSAT012840
2	lnc-SEPT7L-6	chr10:39055226-39055622	NONHSAT012842
3	lnc-ZNF37A-18	chr10:39046332-39046418	NONHSAT012840
4	lnc-ZNF37A-18	chr10:39051186-39051266	NONHSAT012840
5	lnc-ZNF37A-18	chr10:39052289-39052513	NONHSAT012841
6	lnc-ZNF37A-18	chr10:39050990-39051266	NONHSAT012841

Variant related genes	Relation type
ENSG00000227679	TF binding region

Extended variants
information (count: 916 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191244524	chr10:39029809-39029810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571891317	chr10:39029815-39029816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527674394	chr10:39029817-39029818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547769933	chr10:39029824-39029825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567687900	chr10:39029825-39029826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536712447	chr10:39029834-39029835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189831975	chr10:39029846-39029847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376650339	chr10:39029848-39029849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182336201	chr10:39029864-39029865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186949812	chr10:39029865-39029866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10450353	chr10:39029878-39029879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200796667	chr10:39029879-39029880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538505588	chr10:39029880-39029881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558805691	chr10:39029901-39029902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs202064048	chr10:39029902-39029903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75696421	chr10:39029911-39029912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572207374	chr10:39029925-39029926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573686931	chr10:39029974-39029975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191768380	chr10:39029975-39029976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs9664506	chr10:39029987-39029988	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574110317	chr10:39029988-39029989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372983372	chr10:39029989-39029990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543097291	chr10:39029992-39029993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563265957	chr10:39030005-39030006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531928806	chr10:39030006-39030007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545315641	chr10:39030025-39030026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34514117	chr10:39030057-39030058	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548129003	chr10:39030062-39030063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556312601	chr10:39030067-39030068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530147222	chr10:39030075-39030076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576161642	chr10:39030114-39030115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570092996	chr10:39030133-39030134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12256543	chr10:39030136-39030137	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs184887120	chr10:39030165-39030166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565560065	chr10:39030168-39030169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534569474	chr10:39030172-39030173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12253710	chr10:39030173-39030174	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543096235	chr10:39030208-39030209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557006539	chr10:39030215-39030216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200100415	chr10:39030216-39030217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs12772118	chr10:39030219-39030220	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565304602	chr10:39030243-39030244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs527924861	chr10:39030244-39030245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373018501	chr10:39030274-39030275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561616151	chr10:39030385-39030386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12772505	chr10:39030386-39030387	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549868434	chr10:39030420-39030421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560076683	chr10:39030421-39030422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563704209	chr10:39030438-39030439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532472641	chr10:39030440-39030441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:39029800-39031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:39029800-39033800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:39034400-39035800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:39034400-39036000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:39034600-39036000	ZNF genes & repeats	Pancreas	Pancrea

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