Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:68556079-68556687	ECC-1	luminal epithelium:	n/a	n/a
2	NR3C1	chr12:68556149-68556531	ECC-1	luminal epithelium:	n/a	chr12:68556252-68556269 chr12:68556360-68556377 chr12:68556352-68556361
3	EP300	chr12:68555929-68556758	ECC-1	luminal epithelium:	n/a	n/a
4	MAFK	chr12:68555920-68556220	HepG2	liver:	n/a	n/a
5	NR3C1	chr12:68556135-68556503	ECC-1	luminal epithelium:	n/a	chr12:68556252-68556269 chr12:68556360-68556377 chr12:68556352-68556361
6	MAX	chr12:68556045-68556572	ECC-1	luminal epithelium:	n/a	n/a
7	FOSL2	chr12:68556143-68556570	MCF-7	breast:	n/a	chr12:68556352-68556362 chr12:68556353-68556361 chr12:68556190-68556199 chr12:68556352-68556362 chr12:68556349-68556360 chr12:68556352-68556362
8	TCF12	chr12:68555964-68556733	ECC-1	luminal epithelium:	n/a	chr12:68556571-68556580
9	GATA3	chr12:68555709-68556618	MCF-7	breast:	n/a	chr12:68555969-68555978
10	TEAD4	chr12:68556113-68556635	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr12:68556051-68556661	ECC-1	luminal epithelium:	n/a	chr12:68556571-68556580

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68555016..68557743-chr12:68559742..68562281,2	K562	blood:

Variant related genes	Relation type
IFNG	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11177074	0.83[ASN][1000 genomes]
rs11571070	1.00[EUR][1000 genomes]
rs11831576	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835593	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12306852	1.00[ASN][1000 genomes]
rs12308338	1.00[ASN][1000 genomes]
rs12310687	1.00[ASN][1000 genomes]
rs12318069	1.00[ASN][1000 genomes]
rs2069728	0.83[ASN][1000 genomes]
rs2193035	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3181035	0.83[ASN][1000 genomes]
rs4913419	0.90[EUR][1000 genomes]
rs57680423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60017528	1.00[ASN][1000 genomes]
rs60079212	1.00[ASN][1000 genomes]
rs6581798	1.00[EUR][1000 genomes]
rs7296336	0.83[ASN][1000 genomes]
rs7296352	0.83[ASN][1000 genomes]
rs7956688	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7959900	1.00[ASN][1000 genomes]
rs7979999	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847952	chr12:68544896-68693242	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr12:68551200-68557000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:68554000-68556200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:68554000-68557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:68554000-68557200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:68554000-68557600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:68554400-68556200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:68556000-68556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:68556000-68556800	Enhancers	HMEC	breast
9	chr12:68556000-68557000	Enhancers	NHEK	skin
10	chr12:68556000-68557200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: