Variant report

Variant	rs7972737
Chromosome Location	chr12:4737042-4737043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1008578	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10744653	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10744654	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs10744655	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs10774245	0.92[EUR][1000 genomes]
rs11063253	0.82[CEU][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];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[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	0.88[AMR][1000 genomes];0.97[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[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	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860344	0.90[EUR][1000 genomes]
rs1974602	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1990311	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs2267548	0.83[ASN][1000 genomes]
rs2286576	0.85[CEU][hapmap];0.84[GIH][hapmap];0.83[EUR][1000 genomes]
rs2299833	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302246	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2302248	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2884671	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35131771	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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]
rs4766260	0.82[CEU][hapmap]
rs4766264	0.93[CHB][hapmap];0.84[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]
rs7136668	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]
rs720673	0.87[EUR][1000 genomes]
rs7300543	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs730065	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7305150	0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[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]
rs7972920	0.85[ASN][1000 genomes]
rs7975484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876586	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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	chr12:4736800-4737200	Weak transcription	HMEC	breast
6	chr12:4736800-4737600	Strong transcription	Pancreas	Pancrea
7	chr12:4736800-4738600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:4737000-4737800	Strong transcription	Brain Anterior Caudate	brain
9	chr12:4737000-4737800	Strong transcription	Left Ventricle	heart
10	chr12:4737000-4738000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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