Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:67342380-67342530	HepG2	liver:	n/a	n/a
2	BCL11A	chr3:67342336-67342697	GM12878	blood:	n/a	n/a
3	EBF1	chr3:67342385-67342704	GM12878	blood:	n/a	n/a
4	IRF4	chr3:67342233-67342715	GM12878	blood:	n/a	n/a
5	EP300	chr3:67342098-67342632	GM12878	blood:	n/a	n/a
6	BATF	chr3:67341943-67342717	GM12878	blood:	n/a	n/a
7	EBF1	chr3:67342318-67342910	GM12878	blood:	n/a	n/a
8	BCL3	chr3:67342395-67342625	GM12878	blood:	n/a	n/a
9	BATF	chr3:67342329-67342537	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000241884	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1027196	0.93[CEU][hapmap]
rs1027197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387871	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1490267	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1490272	0.86[CEU][hapmap]
rs1552630	0.80[CEU][hapmap]
rs17046165	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1994611	0.86[EUR][1000 genomes]
rs2171932	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2363710	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57388155	0.86[ASN][1000 genomes]
rs62254720	0.81[ASN][1000 genomes]
rs62254721	0.81[ASN][1000 genomes]
rs62254722	0.81[ASN][1000 genomes]
rs6548443	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6787783	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9309753	0.93[CEU][hapmap]
rs9838079	0.93[CEU][hapmap]
rs9843377	0.93[CEU][hapmap]
rs9856163	0.93[CEU][hapmap];0.84[TSI][hapmap]
rs9860348	0.93[CEU][hapmap];0.84[TSI][hapmap]

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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67338800-67344000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:67339800-67342600	Enhancers	HSMMtube	muscle
3	chr3:67340200-67342600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:67340400-67342800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:67340800-67347200	Enhancers	HepG2	liver
6	chr3:67341000-67342600	Weak transcription	Aorta	Aorta
7	chr3:67341200-67342800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:67341200-67342800	Enhancers	GM12878-XiMat	blood
9	chr3:67341600-67342600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:67341600-67342800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:67341600-67342800	Weak transcription	Placenta	Placenta
12	chr3:67342200-67343800	Enhancers	Stomach Mucosa	stomach
13	chr3:67342400-67343600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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