Variant report

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

rs_ID	r²[population]
rs12810051	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12813857	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12832186	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2249315	0.88[EUR][1000 genomes]
rs2250202	0.91[EUR][1000 genomes]
rs2465203	0.88[EUR][1000 genomes]
rs2711696	0.88[EUR][1000 genomes]
rs2715780	0.88[EUR][1000 genomes]
rs34666797	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34881657	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35024790	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56229259	0.83[EUR][1000 genomes]
rs56403430	0.83[EUR][1000 genomes]
rs59977082	0.83[EUR][1000 genomes]
rs7132156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082941	0.83[EUR][1000 genomes]
rs74082948	0.83[EUR][1000 genomes]
rs74082953	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082963	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74082966	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv899054	chr12:47224325-47280079	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47248400-47253000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47249400-47251600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:47251000-47252000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:47251000-47252800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:47251200-47251600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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