Variant report

Variant	esv3422189
Chromosome Location	chr10:25940075-25940635
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	E2F4	chr10:25940370-25940570	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr10:25940091-25940526	T-47D	breast:	n/a	n/a
3	ESR1	chr10:25940018-25940694	T-47D	breast:	n/a	n/a
4	ESR1	chr10:25940102-25940704	T-47D	breast:	n/a	n/a
5	FOXA1	chr10:25940298-25940525	T-47D	breast:	n/a	n/a
6	FOXA1	chr10:25940189-25940678	T-47D	breast:	n/a	n/a
7	FOXA1	chr10:25940532-25940711	T-47D	breast:	n/a	n/a
8	GATA3	chr10:25940094-25940741	T-47D	breast:	n/a	n/a
9	MAFF	chr10:25940586-25940772	HepG2	liver:	n/a	chr10:25940659-25940673 chr10:25940653-25940671
10	MAFK	chr10:25940542-25940718	K562	blood:	n/a	chr10:25940660-25940669 chr10:25940656-25940676 chr10:25940663-25940672 chr10:25940659-25940673 chr10:25940655-25940670 chr10:25940660-25940670 chr10:25940658-25940674
11	MAFK	chr10:25940493-25940836	HepG2	liver:	n/a	chr10:25940660-25940669 chr10:25940656-25940676 chr10:25940663-25940672 chr10:25940659-25940673 chr10:25940655-25940670 chr10:25940660-25940670 chr10:25940658-25940674
12	MAFK	chr10:25940532-25940689	IMR90	lung:	n/a	chr10:25940660-25940669 chr10:25940656-25940676 chr10:25940663-25940672 chr10:25940659-25940673 chr10:25940655-25940670 chr10:25940660-25940670 chr10:25940658-25940674
13	MAFK	chr10:25940521-25940792	HepG2	liver:	n/a	chr10:25940660-25940669 chr10:25940656-25940676 chr10:25940663-25940672 chr10:25940659-25940673 chr10:25940655-25940670 chr10:25940660-25940670 chr10:25940658-25940674

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:25940372-25940422	GM19239	blood:	n/a
2	chr10:25940372-25940422	HMEC	breast:	n/a
3	chr10:25940372-25940422	BE2_C	brain:	n/a
4	chr10:25940372-25940422	NB4	blood:	n/a
5	chr10:25940372-25940422	NH-A	brain:	n/a
6	chr10:25940372-25940422	GM06990	blood:	n/a
7	chr10:25940372-25940422	BJ	skin:	n/a
8	chr10:25940372-25940422	RPTEC	kidney:	n/a
9	chr10:25940372-25940422	ProgFib	skin:	n/a
10	chr10:25940372-25940422	GM12891	blood:	n/a
11	chr10:25940372-25940422	SAEC	small airway:	n/a
12	chr10:25940372-25940422	HepG2	liver:	n/a
13	chr10:25940372-25940422	HUVEC	blood vessel:	n/a
14	chr10:25940372-25940422	PrEC	prostate:	n/a
15	chr10:25940372-25940422	HAEpiC	amniotic membrane:	n/a
16	chr10:25940372-25940422	PANC-1	pancreas:	n/a
17	chr10:25940372-25940422	H1-hESC	embryonic stem cell:	embryo
18	chr10:25940372-25940422	HIPEpiC	eye:	n/a
19	chr10:25940372-25940422	SK-N-SH	brain:	n/a
20	chr10:25940372-25940422	Hela-S3	cervix:	n/a
21	chr10:25940372-25940422	AG04449	skin:	fetal
22	chr10:25940372-25940422	HNPCEpiC	eye:	n/a
23	chr10:25940372-25940422	MCF-7	breast:	n/a
24	chr10:25940372-25940422	SK-N-SH_RA	brain:	n/a
25	chr10:25940372-25940422	Caco-2	colon:	n/a
26	chr10:25940372-25940422	AG10803	skin:	n/a
27	chr10:25940372-25940422	AG04450	lung:	fetal
28	chr10:25940372-25940422	MCF10A-Er-Src	breast:	n/a
29	chr10:25940372-25940422	HCM	heart:	n/a
30	chr10:25940372-25940422	HCPEpiC	choroid plexus:	n/a
31	chr10:25940372-25940422	PFSK-1	brain:	n/a
32	chr10:25940372-25940422	NT2-D1	testis:	n/a
33	chr10:25940372-25940422	Jurkat	blood:	n/a
34	chr10:25940372-25940422	AoSMC	blood vessel:	n/a
35	chr10:25940372-25940422	HRE	kidney:	n/a
36	chr10:25940372-25940422	A549	lung:	n/a
37	chr10:25940372-25940422	CMK	blood:	n/a
38	chr10:25940372-25940422	ECC-1	luminal epithelium:	n/a
39	chr10:25940372-25940422	Hepatocyte	liver:	n/a
40	chr10:25940372-25940422	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:25940372-25940422	ovcar-3	ovarian:	n/a
42	chr10:25940372-25940422	HEK293	kidney:	embryo
43	chr10:25940372-25940422	AG09309	skin:	n/a
44	chr10:25940372-25940422	SKMC	muscle:	n/a
45	chr10:25940372-25940422	GM12878	blood:	n/a
46	chr10:25940372-25940422	GM12892	blood:	n/a
47	chr10:25940372-25940422	LNCaP	prostate:	n/a
48	chr10:25940372-25940422	HRCEpiC	kidney:	n/a
49	chr10:25940372-25940422	IMR90	lung:	fetal
50	chr10:25940372-25940422	HRPEpiC	eye:	n/a

Variant related genes	Relation type
GPN3P1	TF binding region
GPN3P1	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564307145	chr10:25940076-25940077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529299794	chr10:25940078-25940079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112029604	chr10:25940079-25940080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551450587	chr10:25940080-25940081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs199741122	chr10:25940082-25940083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377312266	chr10:25940083-25940084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs57139341	chr10:25940085-25940086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551501785	chr10:25940102-25940103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576563920	chr10:25940119-25940120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140914993	chr10:25940155-25940156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs562033453	chr10:25940221-25940222	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs180889118	chr10:25940231-25940232	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371345757	chr10:25940240-25940241	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs74124240	chr10:25940245-25940246	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564613236	chr10:25940246-25940247	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533618070	chr10:25940251-25940252	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs61846881	chr10:25940301-25940302	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186427753	chr10:25940350-25940351	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs528930126	chr10:25940352-25940353	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548648730	chr10:25940372-25940373	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs368221001	chr10:25940403-25940404	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs571417863	chr10:25940420-25940421	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs551700690	chr10:25940462-25940463	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571405773	chr10:25940465-25940466	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566089713	chr10:25940539-25940540	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528664084	chr10:25940559-25940560	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs56386940	chr10:25940564-25940565	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21525872	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25940200-25940800	Enhancers	Cortex derived primary cultured neurospheres	brain

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