Variant report

Variant	rs2072355
Chromosome Location	chr12:4737715-4737716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10444481	0.95[EUR][1000 genomes]
rs10492055	0.86[CHB][hapmap]
rs10774247	0.85[CHB][hapmap]
rs10774249	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs10774252	0.94[EUR][1000 genomes]
rs10774253	0.94[EUR][1000 genomes]
rs10774254	0.94[CEU][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs10849105	0.82[TSI][hapmap]
rs10849109	0.97[EUR][1000 genomes]
rs10849112	0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.97[ASN][1000 genomes]
rs11063261	0.82[CEU][hapmap];0.86[TSI][hapmap]
rs11063270	0.97[EUR][1000 genomes]
rs12227238	0.97[EUR][1000 genomes]
rs12298137	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12366671	0.82[CEU][hapmap];0.86[TSI][hapmap]
rs1860342	0.94[CEU][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs1990316	0.82[TSI][hapmap]
rs2011272	0.86[CHB][hapmap]
rs2011298	0.94[CEU][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs2058204	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2072356	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072357	0.86[CHB][hapmap]
rs2072359	0.86[CHB][hapmap]
rs2191156	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2240763	0.86[CHB][hapmap]
rs2240764	0.86[CHB][hapmap]
rs2255588	0.86[CHB][hapmap]
rs2267544	0.94[EUR][1000 genomes]
rs2267547	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs2286575	0.86[CHB][hapmap]
rs2299834	0.97[EUR][1000 genomes]
rs2359250	0.97[ASN][1000 genomes]
rs2359251	0.97[ASN][1000 genomes]
rs4147675	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4147683	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs6416316	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs7133467	0.92[EUR][1000 genomes]
rs727867	0.86[CHB][hapmap]
rs7295274	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7300882	0.94[EUR][1000 genomes]
rs7301072	0.94[EUR][1000 genomes]
rs7310920	0.97[EUR][1000 genomes]
rs7310971	0.93[EUR][1000 genomes]
rs7311845	0.97[EUR][1000 genomes]
rs7312062	0.93[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs7316317	0.82[CHB][hapmap]
rs758532	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs7960207	0.88[MKK][hapmap]
rs917565	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs917566	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs979878	0.95[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[ASN][1000 genomes]
rs997373	0.86[MEX][hapmap];0.86[TSI][hapmap]

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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468986	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv557124	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072355	AKAP3	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:4725600-4738400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:4735800-4738400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:4736800-4738600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4737000-4737800	Strong transcription	Brain Anterior Caudate	brain
7	chr12:4737000-4737800	Strong transcription	Left Ventricle	heart
8	chr12:4737000-4738000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:4737200-4738200	Enhancers	HMEC	breast
10	chr12:4737600-4757400	Weak transcription	Pancreas	Pancrea

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