Variant report

Variant	nsv878786
Chromosome Location	chr4:28817206-28843029
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	ATF1	chr4:28823833-28823988	K562	blood:	n/a	n/a
2	CEBPB	chr4:28828127-28828387	A549	lung:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
3	CEBPB	chr4:28825761-28825987	A549	lung:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
4	CEBPB	chr4:28828214-28828396	K562	blood:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
5	CEBPB	chr4:28828128-28828442	HepG2	liver:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
6	CEBPB	chr4:28825718-28826010	IMR90	lung:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
7	CEBPB	chr4:28828136-28828421	IMR90	lung:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
8	CEBPB	chr4:28825839-28825873	K562	blood:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
9	CEBPB	chr4:28825684-28826029	HepG2	liver:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
10	CTCF	chr4:28841783-28841844	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr4:28819582-28819601	GM10266	blood:	n/a	n/a
12	E2F4	chr4:28838724-28838884	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr4:28823104-28823292	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr4:28836317-28836334	K562	blood:	n/a	n/a
15	FOS	chr4:28821665-28821692	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:28821568-28821698	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:28821625-28821686	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr4:28832791-28833018	T-47D	breast:	n/a	n/a
19	GATA3	chr4:28832744-28833124	T-47D	breast:	n/a	n/a
20	GATA3	chr4:28832776-28833110	T-47D	breast:	n/a	n/a
21	JUN	chr4:28823788-28823934	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr4:28828220-28828357	HepG2	liver:	n/a	n/a
23	MAFF	chr4:28833532-28833800	HepG2	liver:	n/a	n/a
24	MAFF	chr4:28833533-28833710	K562	blood:	n/a	n/a
25	MAFK	chr4:28833577-28833836	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFK	chr4:28833524-28833864	HepG2	liver:	n/a	n/a
27	MAFK	chr4:28833520-28833851	IMR90	lung:	n/a	n/a
28	MAFK	chr4:28833525-28833838	HepG2	liver:	n/a	n/a
29	MAFK	chr4:28828904-28829102	HepG2	liver:	n/a	n/a
30	MAZ	chr4:28820412-28820432	HepG2	liver:	n/a	n/a
31	MXI1	chr4:28823852-28823890	H1-hESC	embryonic stem cell:	n/a	n/a
32	NFYA	chr4:28830400-28830662	K562	blood:	n/a	n/a
33	NFYB	chr4:28830219-28830705	GM12878	blood:	n/a	n/a
34	NFYB	chr4:28830218-28830714	K562	blood:	n/a	n/a
35	POLR2A	chr4:28830710-28830845	Gliobla	brain:	n/a	n/a
36	POLR2A	chr4:28841834-28841866	Gliobla	brain:	n/a	n/a
37	POLR2A	chr4:28838352-28838362	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:28817831-28817896	ProgFib	skin:	n/a	n/a
39	POLR2A	chr4:28840384-28840515	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:28827060-28827140	ProgFib	skin:	n/a	n/a
41	POLR2A	chr4:28835725-28836070	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr4:28842947-28843389	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr4:28817901-28817906	ProgFib	skin:	n/a	n/a
44	POLR2A	chr4:28828354-28828436	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:28842550-28842827	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:28827081-28827145	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr4:28834654-28834761	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:28842386-28842408	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr4:28835691-28836110	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr4:28822294-28822306	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:28829667-28829717	SK-N-SH_RA	brain:	n/a
2	chr4:28829667-28829717	SK-N-SH_RA	brain:	n/a
3	chr4:28829667-28829717	HCF	heart:	n/a
4	chr4:28829667-28829717	NHDF-neo	bronchial:	n/a
5	chr4:28829667-28829717	HCM	heart:	n/a
6	chr4:28829667-28829717	AG04450	lung:	fetal
7	chr4:28829667-28829717	HMEC	breast:	n/a
8	chr4:28829667-28829717	Caco-2	colon:	n/a
9	chr4:28829667-28829717	LNCaP	prostate:	n/a
10	chr4:28829667-28829717	HEEpiC	esophagus:	n/a
11	chr4:28829667-28829717	HCPEpiC	choroid plexus:	n/a
12	chr4:28829667-28829717	CMK	blood:	n/a
13	chr4:28829667-28829717	AG09319	gingival:	n/a
14	chr4:28829667-28829717	MCF-7	breast:	n/a
15	chr4:28829667-28829717	HRE	kidney:	n/a
16	chr4:28829667-28829717	SKMC	muscle:	n/a
17	chr4:28829667-28829717	HAEpiC	amniotic membrane:	n/a
18	chr4:28829667-28829717	NT2-D1	testis:	n/a
19	chr4:28829667-28829717	BJ	skin:	n/a
20	chr4:28829667-28829717	Hela-S3	cervix:	n/a
21	chr4:28829667-28829717	HUVEC	blood vessel:	n/a
22	chr4:28829667-28829717	H1-hESC	embryonic stem cell:	embryo
23	chr4:28829667-28829717	RPTEC	kidney:	n/a
24	chr4:28829667-28829717	ovcar-3	ovarian:	n/a
25	chr4:28829667-28829717	SK-N-MC	brain:	n/a
26	chr4:28829667-28829717	HRCEpiC	kidney:	n/a
27	chr4:28829667-28829717	HNPCEpiC	eye:	n/a
28	chr4:28829667-28829717	Jurkat	blood:	n/a
29	chr4:28829667-28829717	GM19239	blood:	n/a
30	chr4:28829667-28829717	AG04449	skin:	fetal
31	chr4:28829667-28829717	GM06990	blood:	n/a
32	chr4:28829667-28829717	NB4	blood:	n/a
33	chr4:28829667-28829717	ECC-1	luminal epithelium:	n/a
34	chr4:28829667-28829717	IMR90	lung:	fetal
35	chr4:28829667-28829717	T-47D	breast:	n/a
36	chr4:28829667-28829717	GM12878	blood:	n/a
37	chr4:28829667-28829717	PANC-1	pancreas:	n/a
38	chr4:28829667-28829717	SK-N-SH	brain:	n/a
39	chr4:28829667-28829717	GM12892	blood:	n/a
40	chr4:28829667-28829717	AoSMC	blood vessel:	n/a
41	chr4:28829667-28829717	NHBE	bronchial:	n/a
42	chr4:28829667-28829717	U87	brain:	n/a
43	chr4:28829667-28829717	BE2_C	brain:	n/a
44	chr4:28829667-28829717	HRPEpiC	eye:	n/a
45	chr4:28829667-28829717	MCF10A-Er-Src	breast:	n/a
46	chr4:28829667-28829717	NH-A	brain:	n/a
47	chr4:28829667-28829717	HL-60	blood:	n/a
48	chr4:28829667-28829717	SAEC	small airway:	n/a
49	chr4:28829667-28829717	HEK293	kidney:	embryo
50	chr4:28829667-28829717	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:28823073..28825418-chr4:28842573..28844204,2	MCF-7	breast:
2	chr4:28823073..28825418-chr4:28842573..28844204,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4275	chr4:28821214-28821230	MIMAT0016905

Variant related genes	Relation type
MESTP3	TF binding region
MESTP3	CpG island

Extended variants
information (count: 244 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6844183	chr4:28821006-28821007	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs547848903	chr4:28821062-28821063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567739473	chr4:28821116-28821117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191992481	chr4:28821161-28821162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374282436	chr4:28821184-28821185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554045453	chr4:28821194-28821195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577055695	chr4:28821228-28821229	Enhancers	miRNA	n/a	Overlapped CNVs	n/a
8	rs539646059	chr4:28821243-28821244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184190005	chr4:28821294-28821295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545996514	chr4:28821308-28821309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544738946	chr4:28821311-28821312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188665463	chr4:28821330-28821331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559643688	chr4:28821353-28821354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115579286	chr4:28821356-28821357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540254501	chr4:28821384-28821385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73804762	chr4:28825872-28825873	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144982567	chr4:28825892-28825893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs184643451	chr4:28825921-28825922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189528043	chr4:28825958-28825959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560298212	chr4:28825978-28825979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561411797	chr4:28826023-28826024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530361921	chr4:28826029-28826030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73219444	chr4:28827065-28827066	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547855431	chr4:28827078-28827079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1389172	chr4:28827109-28827110	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1389173	chr4:28827112-28827113	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2309886	chr4:28827213-28827214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535672197	chr4:28827271-28827272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559138719	chr4:28827289-28827290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185773720	chr4:28827300-28827301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554003546	chr4:28827329-28827330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544648899	chr4:28827341-28827342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188822993	chr4:28827458-28827459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79036382	chr4:28827459-28827460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558511838	chr4:28827467-28827468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142182650	chr4:28827560-28827561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560796087	chr4:28827582-28827583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116417875	chr4:28827637-28827638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151191971	chr4:28827679-28827680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562271610	chr4:28827694-28827695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537931225	chr4:28827696-28827697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181446425	chr4:28827738-28827739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73804764	chr4:28827758-28827759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140265854	chr4:28827790-28827791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376339574	chr4:28828138-28828139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376324604	chr4:28828161-28828162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs562760362	chr4:28828193-28828194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs576205381	chr4:28828239-28828240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186188230	chr4:28828260-28828261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs191041409	chr4:28828262-28828263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28821000-28821400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr4:28827200-28827800	Enhancers	Fetal Heart	heart
3	chr4:28833400-28835000	Enhancers	Fetal Heart	heart
4	chr4:28833600-28833800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:28834200-28835000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:28838000-28838400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:28842400-28843200	Enhancers	Pancreatic Islets	Pancreatic Islet

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