Variant report

Variant	rs7430879
Chromosome Location	chr3:48038714-48038715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1013431	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10446426	0.81[ASN][1000 genomes]
rs1060407	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs1061003	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130150	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11130152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11130154	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130155	0.83[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1137524	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11707679	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs11710199	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11710866	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11711129	0.85[EUR][1000 genomes]
rs11714518	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720151	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11924107	0.83[EUR][1000 genomes]
rs12486714	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12493348	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13074973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075457	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13075795	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077230	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13079407	0.91[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs13080997	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13081463	0.85[EUR][1000 genomes]
rs13081701	0.80[EUR][1000 genomes]
rs13085054	0.94[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap]
rs13093830	0.89[EUR][1000 genomes]
rs1530646	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550914	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1684942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17290490	0.94[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs184388	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2053767	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166770	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166772	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361683	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361684	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2631721	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28637561	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882668	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319680	0.90[AFR][1000 genomes]
rs319681	0.84[EUR][1000 genomes]
rs319682	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs319684	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319685	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319686	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319687	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs319688	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs319689	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319690	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319691	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319692	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs319693	0.85[CEU][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap]
rs319694	0.94[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs319695	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs319696	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34025851	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34597784	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34750113	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35199727	0.89[EUR][1000 genomes]
rs35314534	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35582375	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35689209	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35698005	0.82[AFR][1000 genomes]
rs3732529	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3772399	0.94[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3888	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs3915654	0.94[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4293721	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296617	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4392441	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4599334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858810	0.96[CEU][hapmap]
rs4858860	0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs4858863	0.85[CEU][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs4858871	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4858876	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4858880	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4858881	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4858882	0.86[EUR][1000 genomes]
rs4858887	0.99[EUR][1000 genomes]
rs5012971	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56067795	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60446735	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61181421	0.82[AFR][1000 genomes]
rs62260830	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6442090	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442091	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442094	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442096	0.94[EUR][1000 genomes]
rs6442101	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6442102	0.96[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6763824	0.83[ASW][hapmap];0.84[CEU][hapmap]
rs6766641	0.85[EUR][1000 genomes]
rs6768318	0.86[EUR][1000 genomes]
rs6770467	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770477	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772396	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6773208	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6777081	0.82[EUR][1000 genomes]
rs6783629	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6791834	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6803741	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6806820	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7374482	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7374516	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7426976	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7427418	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7427648	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7430913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618163	0.82[EUR][1000 genomes]
rs7619882	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7620736	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7627645	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7629850	0.85[CEU][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs7642590	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7649981	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7651237	0.80[EUR][1000 genomes]
rs7653368	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777014	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777015	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs777017	0.89[EUR][1000 genomes]
rs796566	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs800762	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs810334	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs936428	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9811277	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9812875	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9814961	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825114	0.96[CEU][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs9828959	0.89[EUR][1000 genomes]
rs9842649	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9846062	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9854454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9860485	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9862913	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
8	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv3335628	chr3:48010796-48074001	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs7430879	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs7430879	MRPS18AP1	cis	Thyroid	GTEx
rs7430879	CDC25A	cis	cerebellum	SCAN
rs7430879	ALS2CL	cis	parietal	SCAN
rs7430879	ZNF589	cis	Adipose Subcutaneous	GTEx
rs7430879	MRPS18AP1	cis	lung	GTEx
rs7430879	GNAI2	cis	parietal	SCAN
rs7430879	ZNF589	cis	Nerve Tibial	GTEx
rs7430879	CDC25A	cis	Thyroid	GTEx
rs7430879	MRPS18AP1	cis	Artery Tibial	GTEx
rs7430879	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs7430879	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs7430879	ZNF589	cis	Whole Blood	GTEx
rs7430879	HYAL2	cis	cerebellum	SCAN
rs7430879	ZNF589	cis	cerebellum	SCAN
rs7430879	ZNF589	cis	parietal	SCAN
rs7430879	SMARCC1	cis	cerebellum	SCAN
rs7430879	NME6	cis	Esophagus Muscularis	GTEx
rs7430879	MRPS18AP1	cis	Nerve Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48003800-48039800	Weak transcription	Brain Angular Gyrus	brain
2	chr3:48003800-48047200	Weak transcription	Lung	lung
3	chr3:48003800-48060600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:48004000-48043600	Weak transcription	Small Intestine	intestine
5	chr3:48004000-48045400	Weak transcription	Placenta	Placenta
6	chr3:48004000-48046200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:48004000-48050600	Weak transcription	Pancreas	Pancrea
8	chr3:48013400-48053400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:48013600-48039400	Weak transcription	Fetal Brain Female	brain
10	chr3:48016600-48055800	Weak transcription	Esophagus	oesophagus
11	chr3:48018000-48057200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:48019400-48043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:48019400-48054800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:48024800-48043000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:48027200-48063600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:48027800-48041800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:48027800-48042000	Weak transcription	Stomach Mucosa	stomach
18	chr3:48029200-48055200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:48029200-48057400	Weak transcription	Spleen	Spleen
20	chr3:48029400-48040400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:48030000-48040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:48030400-48043200	Weak transcription	Thymus	Thymus
23	chr3:48030800-48040800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:48031600-48040200	Weak transcription	Ovary	ovary
25	chr3:48031600-48040200	Weak transcription	K562	blood
26	chr3:48031600-48054600	Weak transcription	HUVEC	blood vessel
27	chr3:48032000-48039600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:48032000-48040000	Weak transcription	Brain Anterior Caudate	brain
29	chr3:48032000-48040000	Weak transcription	Fetal Heart	heart
30	chr3:48032000-48053600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:48033200-48049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:48033600-48040400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:48033800-48040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:48034800-48039800	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:48035400-48039600	Weak transcription	GM12878-XiMat	blood
36	chr3:48035400-48040400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:48035400-48057400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:48035600-48040800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:48035800-48039600	Weak transcription	Brain Substantia Nigra	brain
40	chr3:48036000-48039000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:48036000-48039200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:48036000-48039800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:48036000-48040000	Weak transcription	Primary T cells from cord blood	blood
44	chr3:48036000-48040600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:48036000-48049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:48036000-48052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:48036000-48057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:48036600-48039400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:48036600-48040600	Weak transcription	NHDF-Ad	bronchial
50	chr3:48037400-48040200	Strong transcription	NHLF	lung

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