Variant report

Variant	rs12505596
Chromosome Location	chr4:95109600-95109601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95109304..95112134-chr4:95131785..95134096,2	K562	blood:
2	chr4:94834970..94836520-chr4:95108822..95111523,2	K562	blood:
3	chr4:95108671..95111637-chr4:95128814..95130517,2	K562	blood:

Variant related genes	Relation type
ENSG00000163104	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10008044	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10016806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs10018905	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10023115	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10024198	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10024642	0.93[ASN][1000 genomes]
rs10030586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10034781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10433969	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10433970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10516947	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516950	0.81[ASN][1000 genomes]
rs10856908	0.92[ASN][1000 genomes]
rs10856909	0.89[JPT][hapmap]
rs11097406	0.95[ASN][1000 genomes]
rs11097407	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11097408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11097411	0.92[ASN][1000 genomes]
rs11097417	0.89[JPT][hapmap]
rs11722476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11727030	0.89[JPT][hapmap]
rs11943926	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12499309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12501138	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12510326	0.89[ASN][1000 genomes]
rs12511433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12513267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643901	0.95[ASN][1000 genomes]
rs12645192	0.90[ASN][1000 genomes]
rs12646184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13111083	0.93[ASN][1000 genomes]
rs13112528	0.93[ASN][1000 genomes]
rs13132963	0.90[ASN][1000 genomes]
rs13135934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13142645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13434570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[ASN][1000 genomes]
rs13435702	0.93[ASN][1000 genomes]
rs1509945	0.86[EUR][1000 genomes]
rs1509946	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1565062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1585651	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17021463	0.92[ASN][1000 genomes]
rs17302300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17310266	0.91[ASN][1000 genomes]
rs17310526	0.90[ASN][1000 genomes]
rs17374832	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376404	0.92[ASN][1000 genomes]
rs17376488	0.92[ASN][1000 genomes]
rs17623135	0.91[ASN][1000 genomes]
rs1828324	0.85[ASN][1000 genomes]
rs183993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs1876917	0.96[ASN][1000 genomes]
rs1876918	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991316	0.89[JPT][hapmap]
rs2016476	0.81[ASN][1000 genomes]
rs2016483	0.83[ASN][1000 genomes]
rs2059605	0.81[ASN][1000 genomes]
rs2087170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2129595	0.90[ASN][1000 genomes]
rs2171381	0.92[ASN][1000 genomes]
rs2171384	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276910	0.98[ASN][1000 genomes]
rs2632399	0.93[ASN][1000 genomes]
rs2632401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2632405	0.96[ASN][1000 genomes]
rs2632410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs2632411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2632417	0.98[ASN][1000 genomes]
rs2664871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2664872	0.96[ASN][1000 genomes]
rs2664880	0.96[ASN][1000 genomes]
rs2664881	0.96[ASN][1000 genomes]
rs2664892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2664894	0.95[ASN][1000 genomes]
rs282447	0.96[ASN][1000 genomes]
rs282448	0.91[ASN][1000 genomes]
rs282449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs282450	0.96[ASN][1000 genomes]
rs28403447	0.80[ASN][1000 genomes]
rs28408270	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28469860	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2865343	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865344	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28696050	0.96[ASN][1000 genomes]
rs28815470	0.84[ASN][1000 genomes]
rs2883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs2902979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3106133	0.95[ASN][1000 genomes]
rs3106134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3106135	0.95[ASN][1000 genomes]
rs3106136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3113862	0.95[ASN][1000 genomes]
rs3113863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[ASN][1000 genomes]
rs34145031	0.91[ASN][1000 genomes]
rs34383543	0.86[ASN][1000 genomes]
rs34396894	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34465979	0.81[ASN][1000 genomes]
rs34711938	0.90[ASN][1000 genomes]
rs35361491	0.91[ASN][1000 genomes]
rs35670996	0.91[ASN][1000 genomes]
rs35995707	0.91[ASN][1000 genomes]
rs4235050	0.95[ASN][1000 genomes]
rs4438731	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4558832	0.94[ASN][1000 genomes]
rs4560373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4692999	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693000	0.93[ASN][1000 genomes]
rs4693003	0.96[ASN][1000 genomes]
rs4693004	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4693374	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693376	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4693377	0.92[ASN][1000 genomes]
rs4693378	0.93[ASN][1000 genomes]
rs4693381	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.93[ASN][1000 genomes]
rs56197713	0.93[ASN][1000 genomes]
rs60428594	0.98[ASN][1000 genomes]
rs61004493	0.91[ASN][1000 genomes]
rs61069704	0.96[ASN][1000 genomes]
rs61514245	0.91[ASN][1000 genomes]
rs6532469	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[ASN][1000 genomes]
rs66581998	0.89[ASN][1000 genomes]
rs67552174	0.88[ASN][1000 genomes]
rs6815207	0.81[EUR][1000 genomes]
rs6817795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821438	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6821638	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6823404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.91[ASN][1000 genomes]
rs6840674	0.92[ASN][1000 genomes]
rs6841121	0.92[ASN][1000 genomes]
rs6857967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858265	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6858342	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722486	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665608	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72665629	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665658	0.95[ASN][1000 genomes]
rs7435106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7437089	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7438414	0.89[JPT][hapmap]
rs7439869	0.86[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs7442254	0.87[ASN][1000 genomes]
rs7654565	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657789	0.93[ASN][1000 genomes]
rs7669168	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767657	0.81[ASN][1000 genomes]
rs7676797	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7678054	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7680953	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7685121	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7697827	0.93[ASN][1000 genomes]
rs8026	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs8336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs901615	0.81[ASN][1000 genomes]
rs9307136	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9307137	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9884209	0.93[ASN][1000 genomes]
rs9884431	0.93[ASN][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	nsv931979	chr4:94289958-95121723	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv821636	chr4:94439636-95116590	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv879618	chr4:94980768-95136164	Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95109200-95109800	Weak transcription	NHEK	skin

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