Variant report

Variant	rs12488591
Chromosome Location	chr3:17795931-17795932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17790074..17792070-chr3:17793547..17797014,3	K562	blood:
2	chr3:17782880..17786441-chr3:17793354..17797448,5	MCF-7	breast:
3	chr3:17787258..17788942-chr3:17794142..17796862,2	MCF-7	breast:
4	chr3:17782468..17785976-chr3:17793028..17797546,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131374	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10433560	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10433561	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10510477	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs10510478	0.81[ASW][hapmap];0.85[CEU][hapmap];0.82[LWK][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs11128836	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs11128837	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs11128838	0.85[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs11128839	0.88[CEU][hapmap]
rs11128840	0.87[EUR][1000 genomes]
rs11128841	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs11128842	0.84[EUR][1000 genomes]
rs11128843	0.87[EUR][1000 genomes]
rs11128844	0.91[EUR][1000 genomes]
rs11128848	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs11128849	0.81[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11128850	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11128852	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11708672	0.84[EUR][1000 genomes]
rs11719266	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11719326	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11927637	0.95[EUR][1000 genomes]
rs11927654	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs11929111	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12487248	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487916	0.93[EUR][1000 genomes]
rs12490933	0.83[EUR][1000 genomes]
rs12497320	0.89[CEU][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs12631291	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12632570	0.94[EUR][1000 genomes]
rs12634674	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634893	0.84[EUR][1000 genomes]
rs13061771	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs13065637	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs13069155	0.84[EUR][1000 genomes]
rs13071728	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071934	0.94[EUR][1000 genomes]
rs13076724	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs13079096	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13083917	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085167	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs13096559	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097908	0.89[CEU][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs34002492	0.82[EUR][1000 genomes]
rs34297417	0.93[EUR][1000 genomes]
rs34485427	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34487714	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34786175	0.91[EUR][1000 genomes]
rs34990533	0.91[EUR][1000 genomes]
rs35460334	0.85[EUR][1000 genomes]
rs35642812	0.93[EUR][1000 genomes]
rs35697509	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35811992	0.85[AFR][1000 genomes]
rs36172181	0.84[EUR][1000 genomes]
rs4128509	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs4243835	0.89[CEU][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs4243836	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs4243837	0.84[EUR][1000 genomes]
rs4243838	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4312680	0.84[CEU][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4349529	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4377510	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs4408889	0.84[EUR][1000 genomes]
rs4431138	0.94[EUR][1000 genomes]
rs4435673	0.85[EUR][1000 genomes]
rs4435674	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4444738	0.94[EUR][1000 genomes]
rs4470554	0.85[CEU][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs4482690	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4484221	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs4488868	0.83[EUR][1000 genomes]
rs4513482	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs4566567	0.89[CEU][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs4566568	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4568172	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs4589965	0.93[EUR][1000 genomes]
rs4602424	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs4611850	0.81[ASW][hapmap];0.93[CEU][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4637311	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4643736	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908938	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4908939	1.00[CEU][hapmap];0.92[GIH][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4908940	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4908958	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4908963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs4908964	0.94[EUR][1000 genomes]
rs4908965	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4908966	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4908967	0.81[ASW][hapmap];0.85[CEU][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4908968	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4908969	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4908970	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4908971	0.83[CEU][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4908972	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4908973	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4908987	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs4908992	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909009	0.93[EUR][1000 genomes]
rs4909010	0.93[EUR][1000 genomes]
rs4909012	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs5014632	0.92[CEU][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs55701200	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56059241	0.84[EUR][1000 genomes]
rs57309958	0.93[EUR][1000 genomes]
rs61081795	0.92[EUR][1000 genomes]
rs6577616	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs6577617	0.93[EUR][1000 genomes]
rs6577618	0.84[EUR][1000 genomes]
rs6577619	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs6577622	0.89[CEU][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs6577643	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6577644	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6768637	0.89[CEU][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs6779834	0.91[EUR][1000 genomes]
rs6780587	0.84[EUR][1000 genomes]
rs6784025	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6788190	0.88[EUR][1000 genomes]
rs6789467	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6789697	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792422	0.92[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs6795189	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs6796448	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6797952	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs6803312	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6804837	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6806610	0.84[EUR][1000 genomes]
rs6807020	0.81[ASW][hapmap];0.85[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs6809062	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs6809775	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6810235	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs7427588	1.00[CEU][hapmap];0.92[GIH][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7431897	0.92[EUR][1000 genomes]
rs7609916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613953	0.85[EUR][1000 genomes]
rs7617683	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs7622878	0.88[EUR][1000 genomes]
rs7627064	0.82[EUR][1000 genomes]
rs7627732	0.87[ASW][hapmap];0.85[CEU][hapmap];0.91[LWK][hapmap];0.84[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7630695	0.92[EUR][1000 genomes]
rs7632240	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs7633601	0.93[EUR][1000 genomes]
rs7642860	0.82[CEU][hapmap]
rs7645459	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7647914	0.94[EUR][1000 genomes]
rs7647928	0.94[EUR][1000 genomes]
rs7650617	0.85[EUR][1000 genomes]
rs7651998	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7652156	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8179891	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs8179983	0.89[CEU][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9310524	0.82[EUR][1000 genomes]
rs9310526	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs9310528	0.85[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs9681232	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs9681617	0.92[EUR][1000 genomes]
rs9681644	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs9681893	0.95[EUR][1000 genomes]
rs9815204	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs9816920	0.90[EUR][1000 genomes]
rs9821955	0.92[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs9823767	0.81[ASW][hapmap];0.85[CEU][hapmap];0.91[LWK][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs9839588	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9847461	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs9847477	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9853571	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs9857910	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs9860854	0.80[EUR][1000 genomes]
rs9867064	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9880456	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9880971	0.90[EUR][1000 genomes]
rs9881089	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17791200-17800800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:17791400-17796800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:17791600-17796800	Weak transcription	HMEC	breast
4	chr3:17791600-17796800	Weak transcription	NHEK	skin
5	chr3:17791800-17797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:17791800-17797200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:17792200-17797000	Weak transcription	GM12878-XiMat	blood
8	chr3:17792200-17797200	Weak transcription	Dnd41	blood
9	chr3:17795400-17797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:17795400-17800800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:17795600-17797000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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