Variant report

Variant	rs2166770
Chromosome Location	chr3:48005673-48005674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr3:48005359-48005768	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:48005463-48005796	K562	blood:	n/a	n/a

Variant related genes	Relation type
VPS26BP1	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1013431	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10446426	0.82[ASN][1000 genomes]
rs1060407	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1061003	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11130150	0.85[ASN][1000 genomes]
rs11130152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130154	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130155	0.83[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1137524	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11707679	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11710199	0.82[ASN][1000 genomes]
rs11710866	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11711129	0.85[EUR][1000 genomes]
rs11714518	0.82[EUR][1000 genomes]
rs11720151	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11924107	0.83[EUR][1000 genomes]
rs12486714	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12493348	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13074973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13075457	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13075795	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13077230	0.85[ASN][1000 genomes]
rs13079407	0.91[CEU][hapmap]
rs13080997	0.83[EUR][1000 genomes]
rs13081463	0.85[EUR][1000 genomes]
rs13081701	0.80[EUR][1000 genomes]
rs13085054	0.83[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs13093830	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1486915	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap]
rs1530646	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550914	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1684942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17290490	0.84[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[ASN][1000 genomes]
rs184388	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2053767	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166772	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351248	0.80[CEU][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2361683	0.83[EUR][1000 genomes]
rs2361684	0.83[EUR][1000 genomes]
rs2631721	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28637561	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2882668	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs319681	0.84[EUR][1000 genomes]
rs319682	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319684	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319685	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319686	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319687	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319688	0.84[EUR][1000 genomes]
rs319689	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319690	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs319691	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs319692	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319693	0.85[CEU][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap]
rs319694	0.84[ASW][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[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];0.93[ASN][1000 genomes]
rs34025851	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34597784	0.83[EUR][1000 genomes]
rs34750113	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35199727	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35314534	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35582375	0.85[ASN][1000 genomes]
rs35689209	0.94[EUR][1000 genomes]
rs3732529	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3772399	0.84[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs3888	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap]
rs3915654	0.84[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs4293721	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4296617	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4392441	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4599334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858810	0.96[CEU][hapmap]
rs4858860	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap]
rs4858863	0.85[CEU][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs4858871	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858876	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858880	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4858881	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4858882	0.86[EUR][1000 genomes]
rs4858887	0.99[EUR][1000 genomes]
rs5012971	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56067795	0.83[EUR][1000 genomes]
rs60446735	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62260830	0.82[EUR][1000 genomes]
rs6442090	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442091	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6442094	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442096	0.94[EUR][1000 genomes]
rs6442101	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[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];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs6763824	0.83[ASW][hapmap];0.84[CEU][hapmap];0.83[LWK][hapmap];0.89[YRI][hapmap]
rs6766641	0.85[EUR][1000 genomes]
rs6768318	0.86[EUR][1000 genomes]
rs6770467	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770477	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772396	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6773208	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776963	0.81[CEU][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs6777081	0.82[EUR][1000 genomes]
rs6783629	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6791834	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6803741	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6806820	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7374482	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7374516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7426976	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7427418	0.89[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7427648	0.82[EUR][1000 genomes]
rs7429990	0.84[AFR][1000 genomes]
rs7430879	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]
rs7430913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7618163	0.82[EUR][1000 genomes]
rs7619882	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7620736	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7627645	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[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];0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7649981	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651237	0.80[EUR][1000 genomes]
rs7653368	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777014	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs777015	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs777017	0.89[EUR][1000 genomes]
rs796566	0.96[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs800762	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs810334	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs936428	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9811277	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812875	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9814961	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9825114	0.96[CEU][hapmap];0.83[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];0.96[ASN][1000 genomes]
rs9846062	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860485	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9862913	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs2166770	CDC25A	cis	cerebellum	SCAN
rs2166770	CDC25A	cis	Muscle Skeletal	GTEx
rs2166770	HYAL2	cis	cerebellum	SCAN
rs2166770	MRPS18AP1	cis	Thyroid	GTEx
rs2166770	MRPS18AP1	cis	Nerve Tibial	GTEx
rs2166770	MRPS18AP1	cis	lung	GTEx
rs2166770	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs2166770	MRPS18AP1	cis	Artery Tibial	GTEx
rs2166770	ZNF589	cis	parietal	SCAN
rs2166770	ZNF589	cis	Nerve Tibial	GTEx
rs2166770	SMARCC1	cis	cerebellum	SCAN
rs2166770	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs2166770	CDC25A	cis	Thyroid	GTEx
rs2166770	ZNF589	cis	cerebellum	SCAN
rs2166770	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs2166770	ZNF589	cis	Artery Tibial	GTEx
rs2166770	ALS2CL	cis	parietal	SCAN
rs2166770	GNAI2	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47968600-48012600	Weak transcription	Primary B cells from cord blood	blood
2	chr3:47970200-48013000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:47970200-48016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:47974400-48012600	Weak transcription	Osteobl	bone
5	chr3:47989800-48012400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:47991600-48016800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:47996400-48018400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:47996600-48014600	Weak transcription	NH-A	brain
9	chr3:47996800-48016000	Weak transcription	HUVEC	blood vessel
10	chr3:47998200-48031400	Weak transcription	Brain Germinal Matrix	brain
11	chr3:48001000-48007600	Weak transcription	Fetal Stomach	stomach
12	chr3:48002400-48005800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:48002400-48007400	Enhancers	HepG2	liver
14	chr3:48003000-48005800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:48003000-48005800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:48003000-48007000	Enhancers	Liver	Liver
17	chr3:48003200-48005800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:48003200-48011200	Weak transcription	HSMMtube	muscle
19	chr3:48003400-48006400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:48003400-48015000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:48003400-48017800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:48003400-48029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:48003800-48005800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:48003800-48006000	Enhancers	NHEK	skin
25	chr3:48003800-48012800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:48003800-48013000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:48003800-48014400	Weak transcription	HSMM	muscle
28	chr3:48003800-48014800	Weak transcription	Aorta	Aorta
29	chr3:48003800-48017800	Weak transcription	Dnd41	blood
30	chr3:48003800-48018200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:48003800-48025600	Weak transcription	Adipose Nuclei	Adipose
32	chr3:48003800-48028400	Weak transcription	Fetal Kidney	kidney
33	chr3:48003800-48032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:48003800-48034400	Weak transcription	Fetal Lung	lung
35	chr3:48003800-48034600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:48003800-48037200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:48003800-48039800	Weak transcription	Brain Angular Gyrus	brain
38	chr3:48003800-48047200	Weak transcription	Lung	lung
39	chr3:48003800-48060600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:48004000-48005800	Enhancers	K562	blood
41	chr3:48004000-48006800	Weak transcription	NHDF-Ad	bronchial
42	chr3:48004000-48009600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:48004000-48012800	Weak transcription	Primary T cells from cord blood	blood
44	chr3:48004000-48016600	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:48004000-48016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:48004000-48016800	Weak transcription	Thymus	Thymus
47	chr3:48004000-48017400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:48004000-48017600	Weak transcription	Fetal Thymus	thymus
49	chr3:48004000-48021000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:48004000-48022400	Weak transcription	Fetal Heart	heart

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