Variant report

Variant	rs12321803
Chromosome Location	chr12:1499414-1499415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1005394	0.88[CHB][hapmap]
rs10773938	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10773941	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848460	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10848461	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848462	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848463	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848464	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848465	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848466	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10848467	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848468	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848469	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10848470	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061699	0.82[AMR][1000 genomes]
rs11061704	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061707	0.88[CHB][hapmap]
rs11061711	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061712	0.88[CHB][hapmap]
rs11061714	0.88[CHB][hapmap]
rs11061718	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11061719	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11061720	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11061721	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061722	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061723	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061724	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11061727	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061728	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11061729	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061730	0.86[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061731	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061732	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061733	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061734	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11061735	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11061736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061737	0.88[CHB][hapmap]
rs11061740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061748	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061750	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611107	0.91[CEU][hapmap]
rs11613106	0.81[EUR][1000 genomes]
rs11613252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614113	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615715	0.87[CEU][hapmap]
rs11830570	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831980	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11832938	0.82[ASN][1000 genomes]
rs11836372	0.92[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.86[ASN][1000 genomes]
rs11836774	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11837688	0.88[CHB][hapmap];0.81[MEX][hapmap]
rs12296944	1.00[CEU][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298813	0.88[CHB][hapmap]
rs12301937	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303877	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12304139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12306249	0.84[ASN][1000 genomes]
rs12307046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308558	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12309281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311399	0.85[ASN][1000 genomes]
rs12311864	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314672	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12314755	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12314845	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12315490	0.92[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12316687	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317217	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317763	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12320120	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320293	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs12321617	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12422537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422548	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422634	0.86[ASN][1000 genomes]
rs12423105	0.88[CHB][hapmap]
rs12424140	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425175	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12810240	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1362265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362266	0.94[CHB][hapmap];0.88[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476908	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1548805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548806	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16928347	0.81[CEU][hapmap]
rs16928381	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16928383	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs16928393	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051842	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051844	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052184	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052185	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2158447	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535515	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34554835	0.86[ASN][1000 genomes]
rs34904059	0.86[ASN][1000 genomes]
rs35098918	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35443850	0.85[ASN][1000 genomes]
rs36018681	0.86[ASN][1000 genomes]
rs41369952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4359265	0.86[ASN][1000 genomes]
rs4421802	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4444139	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4447228	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4562882	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4600274	0.89[ASN][1000 genomes]
rs4631941	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56057921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56090844	0.81[EUR][1000 genomes]
rs56126511	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56168743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228728	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56362023	0.84[ASN][1000 genomes]
rs58254940	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58328564	0.84[ASN][1000 genomes]
rs59081735	0.85[ASN][1000 genomes]
rs61913071	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61913101	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61913111	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913131	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913133	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6489282	0.88[CHB][hapmap]
rs7300575	0.81[CEU][hapmap]
rs73026439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304258	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313311	0.88[CHB][hapmap];0.81[MEX][hapmap]
rs7486336	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs766956	0.88[CHB][hapmap]
rs7955591	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962697	0.87[ASN][1000 genomes]
rs7967934	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs7968583	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs7972290	0.84[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs7973734	0.84[CEU][hapmap];0.86[ASN][1000 genomes]
rs7975854	0.81[CEU][hapmap]
rs7978540	0.88[CHB][hapmap]
rs7978898	0.88[CHB][hapmap]
rs956408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943818	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
16	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
21	nsv1039946	chr12:1429190-1548852	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
23	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
24	nsv556949	chr12:1437726-1514021	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
26	nsv1039488	chr12:1486636-1567275	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12321803	NRIP2	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
3	chr12:1473200-1500400	Weak transcription	Right Ventricle	heart
4	chr12:1477000-1500000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:1477200-1500000	Weak transcription	Fetal Kidney	kidney
6	chr12:1477400-1499800	Weak transcription	HSMM	muscle
7	chr12:1477800-1499800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:1478400-1520400	Weak transcription	Pancreas	Pancrea
9	chr12:1478800-1500600	Weak transcription	HSMMtube	muscle
10	chr12:1478800-1500800	Weak transcription	Small Intestine	intestine
11	chr12:1479000-1499800	Weak transcription	A549	lung
12	chr12:1479000-1500000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:1479000-1502400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:1479400-1500000	Weak transcription	Ovary	ovary
15	chr12:1479600-1500000	Weak transcription	Gastric	stomach
16	chr12:1480200-1500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:1481400-1500000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:1481400-1520000	Weak transcription	Thymus	Thymus
19	chr12:1482000-1499800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:1483400-1499600	Weak transcription	HMEC	breast
21	chr12:1484000-1499800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:1484200-1500200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:1484400-1500200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:1484800-1500600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:1485600-1501400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:1486200-1518400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:1486400-1499800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:1486600-1499800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:1486600-1499800	Weak transcription	Fetal Intestine Large	intestine
30	chr12:1486600-1500600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:1486800-1500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:1486800-1500000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:1486800-1530400	Weak transcription	Fetal Lung	lung
34	chr12:1489200-1500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:1489600-1500400	Weak transcription	Fetal Brain Female	brain
36	chr12:1489600-1500400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:1489600-1500400	Weak transcription	Left Ventricle	heart
38	chr12:1489800-1499800	Weak transcription	Primary B cells from cord blood	blood
39	chr12:1489800-1499800	Weak transcription	Primary T cells from cord blood	blood
40	chr12:1489800-1499800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:1489800-1499800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:1489800-1500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:1489800-1500000	Weak transcription	Lung	lung
44	chr12:1489800-1500000	Weak transcription	NHEK	skin
45	chr12:1489800-1500200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:1489800-1500200	Weak transcription	Placenta	Placenta
47	chr12:1489800-1503800	Weak transcription	Fetal Brain Male	brain
48	chr12:1489800-1510800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:1489800-1517600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:1489800-1517800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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