Variant report

Variant	rs7541790
Chromosome Location	chr1:47369313-47369314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:47369132-47369616	HepG2	liver:	n/a	chr1:47369427-47369442
2	ZNF217	chr1:47369260-47369565	MCF-7	breast:	n/a	n/a
3	CEBPB	chr1:47369289-47369609	MCF-7	breast:	n/a	n/a
4	EP300	chr1:47369108-47369561	T-47D	breast:	n/a	n/a
5	FOXA2	chr1:47369311-47369494	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr1:47369092-47369725	MCF-7	breast:	n/a	n/a
7	FOXA1	chr1:47369297-47369593	HepG2	liver:	n/a	chr1:47369427-47369442
8	FOXA1	chr1:47369254-47369502	HepG2	liver:	n/a	chr1:47369427-47369442
9	GATA3	chr1:47369161-47369541	T-47D	breast:	n/a	n/a
10	EP300	chr1:47369189-47369612	T-47D	breast:	n/a	n/a
11	FOXA1	chr1:47369179-47369643	T-47D	breast:	n/a	chr1:47369427-47369442
12	FOXA1	chr1:47369169-47369545	HepG2	liver:	n/a	chr1:47369427-47369442
13	FOXA1	chr1:47369225-47369529	T-47D	breast:	n/a	chr1:47369427-47369442

Variant related genes	Relation type
CYP4Z2P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs45527338	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45568538	1.00[AMR][1000 genomes]
rs4660984	1.00[AMR][1000 genomes]
rs56716388	1.00[AMR][1000 genomes]
rs57274256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437494	1.00[AMR][1000 genomes]
rs58501789	1.00[AMR][1000 genomes]
rs58867903	1.00[AMR][1000 genomes]
rs60494771	1.00[AMR][1000 genomes]
rs60785285	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284575	1.00[AMR][1000 genomes]
rs6692757	1.00[AMR][1000 genomes]
rs72886530	1.00[AMR][1000 genomes]
rs72888469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890336	1.00[AMR][1000 genomes]
rs72890338	1.00[AMR][1000 genomes]
rs72890348	1.00[AMR][1000 genomes]
rs72890351	1.00[AMR][1000 genomes]
rs72890355	1.00[AMR][1000 genomes]
rs7522638	1.00[AMR][1000 genomes]
rs9332997	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333002	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333036	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3348450	chr1:47367125-47373486	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47369200-47369800	Enhancers	Stomach Mucosa	stomach

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