Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:57112815-57113202	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:57112821-57113094	HepG2	liver:	n/a	n/a
3	RFX5	chr1:57112926-57113020	K562	blood:	n/a	n/a
4	FOXA2	chr1:57112882-57113123	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PPAP2B	TF binding region

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

rs_ID	r²[population]
rs10789035	0.83[ASN][1000 genomes]
rs10888992	0.82[ASN][1000 genomes]
rs10888993	0.83[ASN][1000 genomes]
rs10889000	0.86[ASN][1000 genomes]
rs10889004	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10889005	0.81[EUR][1000 genomes]
rs11206878	0.81[ASN][1000 genomes]
rs11206881	0.86[ASN][1000 genomes]
rs11206882	0.84[ASN][1000 genomes]
rs12073253	0.81[EUR][1000 genomes]
rs1539382	0.81[ASN][1000 genomes]
rs2404988	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2746347	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2746352	0.81[EUR][1000 genomes]
rs2746355	0.81[EUR][1000 genomes]
rs2796518	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4399186	0.86[ASN][1000 genomes]
rs56022783	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588640	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs74073774	0.99[ASN][1000 genomes]
rs857152	0.88[AMR][1000 genomes];0.86[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57113200	Active TSS	Right Atrium	heart
2	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:57110000-57113200	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:57110000-57113400	Active TSS	Right Ventricle	heart
5	chr1:57111800-57113200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr1:57112000-57117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:57112000-57119800	Weak transcription	HUVEC	blood vessel
8	chr1:57112200-57113600	Enhancers	Fetal Stomach	stomach
9	chr1:57112600-57113400	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:57112600-57115000	Weak transcription	Left Ventricle	heart
11	chr1:57112600-57121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:57112600-57121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:57112800-57113200	Enhancers	NHLF	lung
14	chr1:57112800-57113400	Enhancers	Hela-S3	cervix
15	chr1:57112800-57113400	Flanking Active TSS	HepG2	liver
16	chr1:57113000-57113200	Flanking Active TSS	Fetal Heart	heart
17	chr1:57113000-57122000	Weak transcription	Fetal Kidney	kidney

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