Variant report

Variant	rs73581088
Chromosome Location	chr8:48096037-48096038
allele	C/G
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	CTCF	chr8:48095920-48096070	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48094665..48096718-chr8:48111922..48113998,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254348	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1391995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs1833510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs4286963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	1.00[AMR][1000 genomes]
rs57564982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565260	1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73578980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581099	0.97[AFR][1000 genomes]
rs73581100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582803	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582845	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582860	1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv890847	chr8:47937950-48124855	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1031982	chr8:47997015-48110595	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv968544	chr8:48092599-48101564	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48092000-48100000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:48095000-48097000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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