Variant report

Variant	rs13075457
Chromosome Location	chr3:48054553-48054554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48053192..48056227-chr3:48058255..48061494,4	K562	blood:
2	chr3:48045100..48046973-chr3:48052739..48054972,2	K562	blood:
3	chr3:48043535..48045129-chr3:48052756..48054615,2	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1013431	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1060407	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs1061003	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11130150	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11130152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130154	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130155	0.83[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1137524	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11707679	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs11710199	0.87[AFR][1000 genomes]
rs11710866	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11711129	0.82[EUR][1000 genomes]
rs11714518	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720151	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11924107	0.81[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];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12493348	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13074973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13075795	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13077230	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13079407	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs13080997	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13081463	0.82[EUR][1000 genomes]
rs13085054	0.89[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap]
rs13093830	0.86[EUR][1000 genomes]
rs1530646	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550914	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1684942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17290490	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs184388	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2053767	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2121754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2166770	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2166772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2361683	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361684	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2631721	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28637561	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2882668	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs319680	0.90[AFR][1000 genomes]
rs319681	0.82[EUR][1000 genomes]
rs319682	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319684	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319685	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319686	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319687	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319688	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs319689	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319690	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs319691	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319692	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319693	0.85[CEU][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap]
rs319694	0.89[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[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];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34025851	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34597784	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34750113	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35199727	0.86[EUR][1000 genomes]
rs35314534	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35582375	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35689209	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35698005	0.83[AFR][1000 genomes]
rs3732529	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772399	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3888	0.83[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs3915654	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4293721	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4296617	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4392441	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4599334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4858810	0.96[CEU][hapmap]
rs4858860	0.83[ASW][hapmap];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	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858876	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4858880	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4858881	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4858882	0.83[EUR][1000 genomes]
rs4858887	0.96[EUR][1000 genomes]
rs5012971	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56067795	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60446735	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61181421	0.83[AFR][1000 genomes]
rs62260830	0.83[AMR][1000 genomes]
rs6442090	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442091	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6442094	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6442096	0.92[EUR][1000 genomes]
rs6442101	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6442102	0.96[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6763824	0.88[ASW][hapmap];0.84[CEU][hapmap]
rs6766641	0.83[EUR][1000 genomes]
rs6768318	0.83[EUR][1000 genomes]
rs6770467	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6770477	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6771917	0.83[AFR][1000 genomes]
rs6772396	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6773208	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6777081	0.81[EUR][1000 genomes]
rs6783629	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6791834	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6803741	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6806820	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7374482	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs7374516	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7426976	0.94[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7427418	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7427648	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7430879	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7430913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7618163	0.80[EUR][1000 genomes]
rs7619882	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7620736	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7627645	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[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];0.94[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7649981	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7653368	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs777014	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs777015	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777017	0.86[EUR][1000 genomes]
rs796566	0.96[CEU][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs800762	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs810334	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs936428	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs9811277	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9812875	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9814961	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9825114	0.96[CEU][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs9828959	0.86[EUR][1000 genomes]
rs9842649	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9846062	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9854454	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9860485	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9862913	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:21)

SNP	Gene	Cis/trans	Tissue	Source
rs13075457	NME6	cis	Esophagus Muscularis	GTEx
rs13075457	GNAI2	cis	parietal	SCAN
rs13075457	HYAL2	cis	cerebellum	SCAN
rs13075457	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs13075457	FCF1P2	cis	Artery Tibial	GTEx
rs13075457	MRPS18AP1	cis	Nerve Tibial	GTEx
rs13075457	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs13075457	ZNF589	cis	Artery Tibial	GTEx
rs13075457	MRPS18AP1	cis	lung	GTEx
rs13075457	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs13075457	SMARCC1	cis	cerebellum	SCAN
rs13075457	CDC25A	cis	Muscle Skeletal	GTEx
rs13075457	CDC25A	cis	cerebellum	SCAN
rs13075457	ZNF589	cis	Nerve Tibial	GTEx
rs13075457	ALS2CL	cis	parietal	SCAN
rs13075457	CDC25A	cis	Thyroid	GTEx
rs13075457	ZNF589	cis	parietal	SCAN
rs13075457	ZNF589	cis	cerebellum	SCAN
rs13075457	MRPS18AP1	cis	Thyroid	GTEx
rs13075457	ZNF589	cis	Adipose Subcutaneous	GTEx
rs13075457	MRPS18AP1	cis	Artery Tibial	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48003800-48060600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:48016600-48055800	Weak transcription	Esophagus	oesophagus
3	chr3:48018000-48057200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:48019400-48054800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:48027200-48063600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:48029200-48055200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:48029200-48057400	Weak transcription	Spleen	Spleen
8	chr3:48031600-48054600	Weak transcription	HUVEC	blood vessel
9	chr3:48035400-48057400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:48036000-48057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:48038000-48054800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:48038200-48054800	Weak transcription	A549	lung
13	chr3:48038200-48055200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:48038600-48055200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:48040400-48055000	Weak transcription	GM12878-XiMat	blood
16	chr3:48040400-48055200	Weak transcription	Dnd41	blood
17	chr3:48040400-48062200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:48041000-48054600	Weak transcription	Hela-S3	cervix
19	chr3:48041000-48057000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:48041000-48057200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:48041200-48054800	Weak transcription	NHEK	skin
22	chr3:48043800-48075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:48043800-48075200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:48046600-48055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:48048000-48059400	Weak transcription	Lung	lung
26	chr3:48050000-48055000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:48050400-48057400	Weak transcription	Right Ventricle	heart
28	chr3:48051000-48055200	Weak transcription	Ovary	ovary
29	chr3:48051200-48055200	Weak transcription	Fetal Stomach	stomach
30	chr3:48051200-48057200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:48051200-48057200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:48051200-48128000	Weak transcription	Primary B cells from cord blood	blood
33	chr3:48051600-48058200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:48051600-48059000	Enhancers	Fetal Thymus	thymus
35	chr3:48051600-48065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:48051800-48055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:48051800-48055200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:48052000-48055400	Weak transcription	Adipose Nuclei	Adipose
39	chr3:48052200-48058600	Enhancers	Brain Angular Gyrus	brain
40	chr3:48052400-48055800	Weak transcription	Right Atrium	heart
41	chr3:48052600-48055400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:48052600-48056000	Enhancers	Rectal Smooth Muscle	rectum
43	chr3:48052600-48058000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:48052800-48055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:48052800-48056800	Enhancers	Stomach Smooth Muscle	stomach
46	chr3:48053000-48057200	Enhancers	HSMMtube	muscle
47	chr3:48053000-48057400	Weak transcription	Fetal Brain Male	brain
48	chr3:48053000-48059200	Enhancers	HepG2	liver
49	chr3:48053000-48061400	Enhancers	Thymus	Thymus
50	chr3:48053200-48056200	Enhancers	Brain Anterior Caudate	brain

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