Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:74295787-74296497	HepG2	liver:	n/a	n/a
2	NR2F2	chr4:74295655-74296938	HepG2	liver:	n/a	n/a
3	NFIC	chr4:74295473-74296650	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
AFP	TF binding region

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

rs_ID	r²[population]
rs12510553	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13106620	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16849267	0.85[ASN][1000 genomes]
rs16849364	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16849366	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28678620	0.91[AFR][1000 genomes]
rs28733441	0.91[AFR][1000 genomes]
rs28821191	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34681098	0.87[ASN][1000 genomes]
rs34787727	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34898621	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35215741	0.81[ASN][1000 genomes]
rs3822100	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs4364229	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4446279	1.00[ASW][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4591567	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4640638	0.94[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs667	0.93[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6829551	0.88[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.92[MKK][hapmap];0.81[YRI][hapmap]
rs6834059	0.94[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6845493	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430875	chr4:74243646-74420354	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv980527	chr4:74289660-74297406	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6829532	PF4V1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74272000-74298200	Weak transcription	Pancreas	Pancrea
2	chr4:74291200-74297000	Enhancers	HepG2	liver
3	chr4:74292800-74296600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:74293200-74296600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:74295200-74298200	Weak transcription	Fetal Lung	lung
6	chr4:74295400-74298000	Enhancers	Liver	Liver
7	chr4:74295800-74297000	Enhancers	K562	blood

Quick Search: