Variant report

Variant	rs7484802
Chromosome Location	chr12:47016261-47016262
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11183524	0.83[EUR][1000 genomes]
rs11183536	0.83[EUR][1000 genomes]
rs11183539	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11183547	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11183550	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11833393	0.83[EUR][1000 genomes]
rs11834607	0.83[EUR][1000 genomes]
rs12300125	0.83[EUR][1000 genomes]
rs12310635	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12320420	0.83[AMR][1000 genomes]
rs12578813	0.84[EUR][1000 genomes]
rs12579089	0.84[EUR][1000 genomes]
rs12580092	0.84[EUR][1000 genomes]
rs12580356	0.84[EUR][1000 genomes]
rs12580488	0.80[EUR][1000 genomes]
rs12581311	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12581366	0.84[EUR][1000 genomes]
rs12582013	0.80[EUR][1000 genomes]
rs12582056	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12582476	0.84[EUR][1000 genomes]
rs17096991	0.83[EUR][1000 genomes]
rs17121410	0.83[EUR][1000 genomes]
rs17594275	0.80[EUR][1000 genomes]
rs17611638	0.84[EUR][1000 genomes]
rs1946175	0.83[EUR][1000 genomes]
rs2042058	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs235600	0.97[AMR][1000 genomes]
rs235601	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs235602	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs235607	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs235610	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs235616	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs235617	0.90[AMR][1000 genomes]
rs235621	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs235622	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs235625	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs235626	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs235627	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2408577	0.83[EUR][1000 genomes]
rs2430937	0.83[EUR][1000 genomes]
rs2430939	0.83[EUR][1000 genomes]
rs2430940	0.83[EUR][1000 genomes]
rs2430941	0.83[EUR][1000 genomes]
rs2430942	0.83[EUR][1000 genomes]
rs2430943	0.83[EUR][1000 genomes]
rs2471588	0.83[EUR][1000 genomes]
rs2471594	0.83[EUR][1000 genomes]
rs2471601	0.83[EUR][1000 genomes]
rs2471602	0.83[EUR][1000 genomes]
rs2471605	0.83[EUR][1000 genomes]
rs2471608	0.83[EUR][1000 genomes]
rs2471617	0.83[EUR][1000 genomes]
rs2471618	0.83[EUR][1000 genomes]
rs28768973	0.83[EUR][1000 genomes]
rs2909411	0.83[EUR][1000 genomes]
rs2960450	0.83[EUR][1000 genomes]
rs34008890	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35096979	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4768741	0.90[AMR][1000 genomes]
rs4768742	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4768744	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56111534	0.83[EUR][1000 genomes]
rs57370043	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57658610	0.83[EUR][1000 genomes]
rs58561072	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60191997	0.83[EUR][1000 genomes]
rs61355826	0.83[EUR][1000 genomes]
rs61641663	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7310326	0.83[EUR][1000 genomes]
rs7310408	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73282109	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73292001	0.83[EUR][1000 genomes]
rs7488464	0.83[EUR][1000 genomes]
rs766794	0.84[EUR][1000 genomes]
rs9669050	0.83[EUR][1000 genomes]
rs977069	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47003200-47025600	Weak transcription	NHEK	skin
3	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea

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