Variant report

Variant	rs7136668
Chromosome Location	chr12:4734970-4734971
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1008578	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10744653	0.81[CEU][hapmap];0.85[GIH][hapmap]
rs10744654	0.84[CEU][hapmap]
rs10744655	0.81[TSI][hapmap]
rs10774245	0.86[EUR][1000 genomes]
rs11063253	0.83[GIH][hapmap]
rs11063280	0.86[ASN][1000 genomes]
rs11063282	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs11063285	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs12303320	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12308883	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs12309713	0.80[ASN][1000 genomes]
rs12310639	0.96[ASN][1000 genomes]
rs12313377	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12318966	0.85[ASN][1000 genomes]
rs12811453	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs12828416	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12829711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16931616	0.85[ASN][1000 genomes]
rs16931620	0.85[ASN][1000 genomes]
rs1860343	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860344	0.84[EUR][1000 genomes]
rs1974602	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1990311	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs2267548	0.83[ASN][1000 genomes]
rs2286576	0.82[CEU][hapmap];0.90[GIH][hapmap]
rs2299833	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302246	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2302248	0.81[CEU][hapmap];0.85[GIH][hapmap]
rs2884671	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35131771	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35167443	0.86[ASN][1000 genomes]
rs4147671	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs4147672	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs4147673	0.86[ASN][1000 genomes]
rs4147677	0.85[ASN][1000 genomes]
rs4147678	0.85[ASN][1000 genomes]
rs4147679	0.85[ASN][1000 genomes]
rs4147680	0.85[ASN][1000 genomes]
rs4147682	0.82[ASN][1000 genomes]
rs4147684	0.85[ASN][1000 genomes]
rs4147685	0.85[ASN][1000 genomes]
rs4766264	0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4766267	0.91[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs4766269	0.85[ASN][1000 genomes]
rs61909965	0.85[ASN][1000 genomes]
rs720673	0.81[EUR][1000 genomes]
rs7300543	0.81[CEU][hapmap];0.85[GIH][hapmap]
rs730065	0.81[CEU][hapmap];0.85[GIH][hapmap]
rs7305150	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7312402	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7958182	0.85[ASN][1000 genomes]
rs7972657	0.85[ASN][1000 genomes]
rs7972737	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972920	0.85[ASN][1000 genomes]
rs7975484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977981	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876586	0.94[ASN][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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7136668	AKAP3	cis	parietal	SCAN
rs7136668	DYRK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4723600-4735600	Weak transcription	HMEC	breast
2	chr12:4724200-4735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:4725400-4736800	Weak transcription	Pancreas	Pancrea
5	chr12:4725400-4737000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:4725400-4737000	Weak transcription	Left Ventricle	heart
7	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:4725600-4735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:4725600-4738400	Weak transcription	Brain Inferior Temporal Lobe	brain

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