Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr17:46537541-46537775	K562	blood:	n/a	chr17:46537627-46537638
2	USF1	chr17:46537357-46537845	HCT-116	colon:	n/a	n/a
3	USF1	chr17:46537532-46537741	GM12878	blood:	n/a	n/a
4	CTCF	chr17:46537500-46537650	GM12864	blood:	n/a	n/a
5	CTCF	chr17:46537500-46537650	GM12872	blood:	n/a	n/a
6	CTCF	chr17:46537520-46537670	GM12878	blood:	n/a	n/a
7	USF1	chr17:46537350-46537779	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr17:46537373-46537823	K562	blood:	n/a	n/a
9	USF1	chr17:46537376-46537773	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr17:46537430-46537776	A549	lung:	n/a	n/a
11	USF2	chr17:46537516-46537696	GM12878	blood:	n/a	chr17:46537627-46537638
12	NFYB	chr17:46537498-46537802	GM12878	blood:	n/a	n/a
13	NFYB	chr17:46537533-46537815	K562	blood:	n/a	n/a
14	USF1	chr17:46537460-46537719	A549	lung:	n/a	n/a
15	USF1	chr17:46537449-46537819	K562	blood:	n/a	n/a
16	CTCF	chr17:46537500-46537650	HEK293	kidney:	n/a	n/a
17	USF2	chr17:46537617-46537683	Hela-S3	cervix:	n/a	chr17:46537627-46537638
18	MAX	chr17:46537592-46537760	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr17:46537611-46537735	K562	blood:	n/a	n/a
20	CTCF	chr17:46537540-46537690	GM12872	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX11-3	chr17:46537491-46538034	NONHSAT054397

Variant related genes	Relation type
ENSG00000264451	TF binding region

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1472966	0.83[EUR][1000 genomes]
rs17624626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17695373	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17696392	0.83[EUR][1000 genomes]
rs72827814	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72827830	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72827832	0.83[EUR][1000 genomes]
rs72827834	0.83[EUR][1000 genomes]
rs72827876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72827877	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72827882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72827885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72827899	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72827901	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46535000-46540800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:46535200-46540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:46535200-46540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:46535400-46540600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:46536800-46537800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr17:46537000-46537800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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