Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:118227562-118228286	HEK293	kidney:	n/a	n/a
2	REST	chr6:118227583-118228435	PFSK-1	brain:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
3	EBF1	chr6:118227577-118228067	GM12878	blood:	n/a	chr6:118227759-118227770
4	EBF1	chr6:118227492-118228307	GM12878	blood:	n/a	chr6:118227759-118227770
5	REST	chr6:118227381-118228844	HL-60	blood:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114

Variant related genes	Relation type
SLC35F1	TF binding region

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

rs_ID	r²[population]
rs13200447	0.84[EUR][1000 genomes]
rs17334264	0.84[EUR][1000 genomes]
rs2476202	0.92[EUR][1000 genomes]
rs2760227	0.88[EUR][1000 genomes]
rs2760230	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2760236	0.92[EUR][1000 genomes]
rs2760237	0.92[EUR][1000 genomes]
rs2760238	0.92[EUR][1000 genomes]
rs2760248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs2788994	0.88[EUR][1000 genomes]
rs2788995	1.00[EUR][1000 genomes]
rs2788998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35106048	0.84[EUR][1000 genomes]
rs553592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555789	1.00[EUR][1000 genomes]
rs6905222	0.84[EUR][1000 genomes]
rs6942237	0.91[EUR][1000 genomes]
rs71570870	0.84[EUR][1000 genomes]
rs7745854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765524	0.87[EUR][1000 genomes]
rs9654611	0.88[EUR][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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3414441	chr6:118227509-118229957	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr6:118226400-118227600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:118226800-118228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:118227200-118227600	Active TSS	Brain Anterior Caudate	brain
4	chr6:118227400-118227600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:118227400-118227600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr6:118227400-118227600	Active TSS	Brain Hippocampus Middle	brain
7	chr6:118227400-118227600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:118227400-118227800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:118227400-118227800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:118227400-118227800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:118227400-118228200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:118227400-118230200	Active TSS	Brain Angular Gyrus	brain
13	chr6:118227400-118230400	Active TSS	Brain Inferior Temporal Lobe	brain

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