Variant report

Variant	rs4694550
Chromosome Location	chr4:69886275-69886276
allele	C/T
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	MBD4	chr4:69885689-69886488	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:69886176-69886490	A549	lung:	n/a	n/a
3	MYBL2	chr4:69885263-69886486	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:69885312-69886654	HepG2	liver:	n/a	chr4:69886249-69886264
5	CEBPB	chr4:69886187-69886480	HepG2	liver:	n/a	n/a
6	RXRA	chr4:69885800-69886451	HepG2	liver:	n/a	n/a
7	JUND	chr4:69885732-69886422	HepG2	liver:	n/a	chr4:69885873-69885884
8	FOXA2	chr4:69885951-69886567	A549	lung:	n/a	n/a
9	CEBPB	chr4:69886177-69886484	HepG2	liver:	n/a	n/a
10	MYBL2	chr4:69884676-69886649	HepG2	liver:	n/a	n/a
11	SP1	chr4:69885381-69886611	HepG2	liver:	n/a	n/a
12	SP1	chr4:69885411-69886606	A549	lung:	n/a	n/a
13	HDAC2	chr4:69885851-69886484	HepG2	liver:	n/a	chr4:69886254-69886263 chr4:69886187-69886196
14	NR3C1	chr4:69886026-69886387	A549	lung:	n/a	n/a
15	JUND	chr4:69885686-69886476	A549	lung:	n/a	chr4:69885873-69885884
16	HNF4G	chr4:69886126-69886497	HepG2	liver:	n/a	chr4:69886231-69886245
17	HEY1	chr4:69884215-69886413	HepG2	liver:	n/a	n/a
18	ZBTB33	chr4:69885806-69886454	HepG2	liver:	n/a	n/a
19	FOXA1	chr4:69885819-69886555	HepG2	liver:	n/a	chr4:69886249-69886264
20	EP300	chr4:69885783-69886499	HepG2	liver:	n/a	chr4:69886186-69886196
21	RAD21	chr4:69885857-69886512	HepG2	liver:	n/a	n/a
22	TBP	chr4:69885905-69886345	HepG2	liver:	n/a	n/a
23	MAFF	chr4:69886103-69886303	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:69885959-69886509	HepG2	liver:	n/a	n/a
25	REST	chr4:69885961-69886497	A549	lung:	n/a	n/a
26	MBD4	chr4:69885154-69886499	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr4:69885794-69886363	HepG2	liver:	n/a	n/a
28	HNF4A	chr4:69885857-69886436	HepG2	liver:	n/a	chr4:69886230-69886245 chr4:69886231-69886245
29	EP300	chr4:69885586-69886623	A549	lung:	n/a	chr4:69886186-69886196
30	HNF4G	chr4:69885952-69886448	HepG2	liver:	n/a	chr4:69886231-69886245
31	TCF7L2	chr4:69885917-69886445	HepG2	liver:	n/a	n/a
32	FOXA1	chr4:69885861-69886506	HepG2	liver:	n/a	chr4:69886249-69886264
33	NFIC	chr4:69885693-69886626	HepG2	liver:	n/a	n/a
34	EP300	chr4:69885558-69886725	A549	lung:	n/a	chr4:69886186-69886196
35	FOXA2	chr4:69885869-69886499	HepG2	liver:	n/a	n/a
36	BCL3	chr4:69885805-69886533	A549	lung:	n/a	n/a
37	NR3C1	chr4:69885729-69886465	A549	lung:	n/a	n/a
38	CEBPB	chr4:69886059-69886427	A549	lung:	n/a	n/a
39	NR3C1	chr4:69885733-69886457	A549	lung:	n/a	n/a
40	HNF4A	chr4:69886070-69886443	HepG2	liver:	n/a	chr4:69886230-69886245 chr4:69886231-69886245
41	TCF12	chr4:69885846-69886529	HepG2	liver:	n/a	chr4:69886254-69886263
42	ARID3A	chr4:69885882-69886539	HepG2	liver:	n/a	n/a
43	FOXA2	chr4:69885158-69886968	HepG2	liver:	n/a	n/a
44	NFIC	chr4:69885728-69886496	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:69883594-69886315	HepG2	liver:	n/a	n/a
46	RXRA	chr4:69885942-69886440	HepG2	liver:	n/a	n/a
47	FOSL2	chr4:69885442-69886302	HepG2	liver:	n/a	chr4:69885872-69885883
48	FOXA2	chr4:69885337-69886597	A549	lung:	n/a	n/a
49	FOSL2	chr4:69885343-69886544	A549	lung:	n/a	chr4:69885872-69885883
50	USF1	chr4:69885771-69886468	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000251685	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10000598	0.82[EUR][1000 genomes]
rs10006282	0.82[EUR][1000 genomes]
rs10010699	0.82[EUR][1000 genomes]
rs10025070	0.93[ASN][1000 genomes]
rs10033045	0.93[ASN][1000 genomes]
rs10518057	0.82[EUR][1000 genomes]
rs10903224	0.82[EUR][1000 genomes]
rs11931604	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932983	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933432	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936412	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11937195	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11945620	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11945705	0.93[ASN][1000 genomes]
rs11946976	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499093	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12499192	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12503622	0.82[ASN][1000 genomes]
rs12506592	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507173	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507556	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508596	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508920	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509040	0.88[EUR][1000 genomes]
rs13132528	0.82[EUR][1000 genomes]
rs13136922	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13148179	0.80[EUR][1000 genomes]
rs13148603	0.82[EUR][1000 genomes]
rs1379813	0.82[EUR][1000 genomes]
rs1379816	0.82[EUR][1000 genomes]
rs1458243	0.81[EUR][1000 genomes]
rs1458245	0.82[EUR][1000 genomes]
rs1458246	0.82[EUR][1000 genomes]
rs1598904	0.82[EUR][1000 genomes]
rs17605102	0.87[EUR][1000 genomes]
rs1841052	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993546	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2125307	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365062	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34545777	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34561399	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4259121	0.93[ASN][1000 genomes]
rs4343788	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348159	0.87[ASN][1000 genomes]
rs4418041	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434329	0.93[ASN][1000 genomes]
rs4554146	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694152	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694606	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55676022	0.82[ASN][1000 genomes]
rs55831171	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55905314	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56943005	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57468707	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58618511	0.81[AFR][1000 genomes]
rs58965335	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59314351	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59732068	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60276248	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62296919	0.93[ASN][1000 genomes]
rs62296937	0.82[EUR][1000 genomes]
rs62296941	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62298861	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62298872	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66698711	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642933	0.86[EUR][1000 genomes]
rs72642938	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642947	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642961	0.93[ASN][1000 genomes]
rs7435335	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7441753	0.82[EUR][1000 genomes]
rs7680341	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7692753	0.83[EUR][1000 genomes]
rs9329037	0.81[EUR][1000 genomes]
rs9991142	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv2757064	chr4:69863174-69901607	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv980213	chr4:69870183-69893292	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69885200-69886400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:69885800-69887000	Weak transcription	A549	lung
3	chr4:69885800-69887200	Enhancers	Fetal Intestine Large	intestine
4	chr4:69886000-69889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:69886000-69889800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:69886000-69891000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:69886200-69889200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:69886200-69889400	Enhancers	Liver	Liver
9	chr4:69886200-69889800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:69886200-69893000	Enhancers	HepG2	liver

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