Variant report

Variant	rs7374516
Chromosome Location	chr3:48002640-48002641
allele	C/T
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	USF1	chr3:48002527-48002759	HepG2	liver:	n/a	chr3:48002647-48002658
2	USF1	chr3:48002515-48002722	SK-N-SH_RA	brain:	n/a	chr3:48002647-48002658
3	USF1	chr3:48002529-48002830	H1-hESC	embryonic stem cell:	n/a	chr3:48002647-48002658
4	USF1	chr3:48002593-48002727	SK-N-SH_RA	brain:	n/a	chr3:48002647-48002658
5	MAFF	chr3:48002388-48002654	K562	blood:	n/a	n/a
6	USF1	chr3:48002449-48002717	K562	blood:	n/a	chr3:48002647-48002658
7	USF1	chr3:48002522-48002734	H1-hESC	embryonic stem cell:	n/a	chr3:48002647-48002658

Variant related genes	Relation type
VPS26BP1	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1013431	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[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];0.89[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[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1137524	0.91[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];0.89[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];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.81[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];0.81[AFR][1000 genomes];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	0.81[AFR][1000 genomes];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];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[TSI][hapmap]
rs13091913	0.89[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][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];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs1530646	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550914	0.98[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];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[TSI][hapmap];0.85[ASN][1000 genomes]
rs184388	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2053767	0.82[AFR][1000 genomes];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]
rs2166770	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]
rs2166772	0.86[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	0.82[AFR][1000 genomes];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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][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	0.90[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	0.80[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];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][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	0.92[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];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[TSI][hapmap]
rs3888	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs3915654	0.84[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][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	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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];0.96[ASN][1000 genomes]
rs4858810	0.96[CEU][hapmap]
rs4858860	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.83[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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858876	0.87[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	0.97[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	0.82[AFR][1000 genomes];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];0.89[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[YRI][hapmap];0.83[EUR][1000 genomes]
rs6763824	0.83[ASW][hapmap];0.84[CEU][hapmap];0.81[LWK][hapmap];0.83[YRI][hapmap]
rs6766641	0.85[EUR][1000 genomes]
rs6768318	0.86[EUR][1000 genomes]
rs6770467	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770477	0.82[AFR][1000 genomes];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	0.86[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	0.84[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];0.89[CHD][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6806820	0.84[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]
rs7426976	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[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];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7427648	0.82[EUR][1000 genomes]
rs7429990	0.90[AFR][1000 genomes]
rs7430879	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]
rs7430913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];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];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7649981	0.82[AFR][1000 genomes];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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][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];0.80[YRI][hapmap];0.84[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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][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];0.83[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9811277	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812875	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9814961	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.96[ASN][1000 genomes]
rs9846062	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854454	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860485	0.81[AFR][1000 genomes];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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[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:19)

SNP	Gene	Cis/trans	Tissue	Source
rs7374516	ALS2CL	cis	parietal	SCAN
rs7374516	CDC25A	cis	Muscle Skeletal	GTEx
rs7374516	ZNF589	cis	Nerve Tibial	GTEx
rs7374516	SMARCC1	cis	cerebellum	SCAN
rs7374516	GNAI2	cis	parietal	SCAN
rs7374516	HYAL2	cis	cerebellum	SCAN
rs7374516	MRPS18AP1	cis	Nerve Tibial	GTEx
rs7374516	CDC25A	cis	Thyroid	GTEx
rs7374516	ZNF589	cis	Artery Tibial	GTEx
rs7374516	MRPS18AP1	cis	Thyroid	GTEx
rs7374516	MRPS18AP1	cis	Artery Tibial	GTEx
rs7374516	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs7374516	ZNF589	cis	parietal	SCAN
rs7374516	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs7374516	ZNF589	cis	cerebellum	SCAN
rs7374516	CDC25A	cis	cerebellum	SCAN
rs7374516	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs7374516	MRPS18AP1	cis	lung	GTEx
rs7374516	NME6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:95 , 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	chr3:47968800-48003000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:47969000-48003000	Weak transcription	Thymus	Thymus
4	chr3:47969200-48003200	Weak transcription	Lung	lung
5	chr3:47969800-48003000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:47969800-48003000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:47969800-48003000	Weak transcription	Hela-S3	cervix
8	chr3:47969800-48003200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:47969800-48003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:47969800-48003200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:47969800-48004000	Weak transcription	NHLF	lung
12	chr3:47970000-48003000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:47970200-48003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:47970200-48003000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:47970200-48003000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:47970200-48003200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:47970200-48003200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:47970200-48013000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:47970200-48016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:47974400-48003000	Weak transcription	HSMMtube	muscle
21	chr3:47974400-48003200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:47974400-48012600	Weak transcription	Osteobl	bone
23	chr3:47982800-48003200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:47983200-48003600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:47989600-48002800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:47989800-48003200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:47989800-48012400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:47991600-48016800	Weak transcription	Fetal Intestine Large	intestine
29	chr3:47992000-48003200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:47992000-48003200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:47992800-48003400	Weak transcription	A549	lung
32	chr3:47993000-48003200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:47994200-48003200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:47994200-48005400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:47994600-48003200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:47995800-48002800	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:47996200-48003200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:47996400-48018400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:47996600-48014600	Weak transcription	NH-A	brain
40	chr3:47996800-48016000	Weak transcription	HUVEC	blood vessel
41	chr3:47997000-48003200	Weak transcription	Spleen	Spleen
42	chr3:47997400-48002800	Weak transcription	K562	blood
43	chr3:47997600-48003200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:47997800-48003200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:47998000-48003000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:47998000-48003000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:47998200-48031400	Weak transcription	Brain Germinal Matrix	brain
48	chr3:47998400-48002800	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:47998400-48003000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:47998400-48003200	Weak transcription	Adipose Nuclei	Adipose

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