Variant report

Variant	rs3103100
Chromosome Location	chr8:100506322-100506323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100506206..100508940-chr8:100515378..100517666,2	MCF-7	breast:
2	chr8:100505320..100508002-chr8:100513544..100516254,2	K562	blood:
3	chr8:100495717..100498178-chr8:100505651..100508035,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:201)

rs_ID	r²[population]
rs1027243	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504993	0.89[ASN][1000 genomes]
rs10504994	0.87[ASN][1000 genomes]
rs10955213	1.00[JPT][hapmap]
rs10955214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955215	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs10955216	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955218	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955219	0.87[ASN][1000 genomes]
rs1117459	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11787264	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541307	0.87[ASN][1000 genomes]
rs12541910	0.87[ASN][1000 genomes]
rs12542004	0.87[ASN][1000 genomes]
rs12542214	1.00[JPT][hapmap]
rs12543912	0.89[ASN][1000 genomes]
rs12544405	0.87[ASN][1000 genomes]
rs12545238	0.82[ASN][1000 genomes]
rs12546122	0.87[ASN][1000 genomes]
rs12546643	0.82[ASN][1000 genomes]
rs12547022	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548482	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12549452	0.89[ASN][1000 genomes]
rs12549477	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550139	0.82[ASN][1000 genomes]
rs12676915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677357	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1386373	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1386375	0.87[ASN][1000 genomes]
rs1388656	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1388657	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1449784	0.82[ASN][1000 genomes]
rs1449785	0.82[ASN][1000 genomes]
rs1449792	0.82[ASN][1000 genomes]
rs1487022	0.81[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];0.96[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1487024	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1502132	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545959	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1565581	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs1615498	0.82[ASN][1000 genomes]
rs1616204	0.82[ASN][1000 genomes]
rs1617299	0.82[ASN][1000 genomes]
rs1667631	0.80[ASN][1000 genomes]
rs1667635	0.82[ASN][1000 genomes]
rs1667637	0.82[ASN][1000 genomes]
rs1667638	0.82[ASN][1000 genomes]
rs1667639	0.82[ASN][1000 genomes]
rs1667642	0.82[ASN][1000 genomes]
rs1667643	0.81[ASN][1000 genomes]
rs1667644	0.82[ASN][1000 genomes]
rs16897430	0.81[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];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16897435	0.81[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];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16897440	0.81[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];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16897453	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16897473	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16897489	0.89[ASN][1000 genomes]
rs16897493	0.89[ASN][1000 genomes]
rs16897501	0.89[ASN][1000 genomes]
rs16897514	0.87[ASN][1000 genomes]
rs16897517	0.87[ASN][1000 genomes]
rs16897526	0.87[ASN][1000 genomes]
rs16897527	0.87[ASN][1000 genomes]
rs16897528	0.82[ASN][1000 genomes]
rs16897533	0.82[ASN][1000 genomes]
rs16897536	0.82[ASN][1000 genomes]
rs16897542	0.82[ASN][1000 genomes]
rs16897546	0.82[ASN][1000 genomes]
rs1788143	0.82[ASN][1000 genomes]
rs1788146	0.80[ASN][1000 genomes]
rs1788147	0.82[ASN][1000 genomes]
rs1788151	0.82[ASN][1000 genomes]
rs1788153	0.82[ASN][1000 genomes]
rs1788154	0.82[ASN][1000 genomes]
rs1788156	0.82[ASN][1000 genomes]
rs1825754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1825755	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1844947	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1949123	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2035617	0.87[ASN][1000 genomes]
rs2035618	0.87[ASN][1000 genomes]
rs2167102	0.82[ASN][1000 genomes]
rs2280060	0.89[ASN][1000 genomes]
rs2442757	0.82[ASN][1000 genomes]
rs2510201	0.82[ASN][1000 genomes]
rs2510203	0.82[ASN][1000 genomes]
rs3103103	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3103696	0.81[AMR][1000 genomes]
rs3103697	1.00[JPT][hapmap]
rs3103698	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3103699	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3103700	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3103702	1.00[JPT][hapmap]
rs3103703	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3103704	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3103706	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3103717	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3103718	0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs3103721	0.84[AMR][1000 genomes]
rs3103722	1.00[JPT][hapmap]
rs3103723	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3103724	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3103725	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3103731	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs3103732	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3105168	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105169	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105170	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105171	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105174	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3105177	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3105178	1.00[JPT][hapmap];0.84[TSI][hapmap]
rs3105181	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3105185	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3105186	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3105187	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3105190	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3105191	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105192	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3105193	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3105195	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3105198	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3105201	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3105203	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3105204	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105205	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110393	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3110397	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs3110399	0.81[AMR][1000 genomes]
rs3110400	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs3110401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs3110404	0.84[AMR][1000 genomes]
rs3110405	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs3134143	0.80[AMR][1000 genomes]
rs3134146	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134150	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3134151	1.00[JPT][hapmap]
rs3134153	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs3134156	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134158	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134159	1.00[JPT][hapmap]
rs3134162	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134166	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134167	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134168	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134171	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134173	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134176	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3134177	1.00[JPT][hapmap]
rs3134178	1.00[JPT][hapmap];0.84[TSI][hapmap]
rs3134180	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3134181	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134182	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134183	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134184	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3134185	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134300	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34273034	0.89[ASN][1000 genomes]
rs34966198	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35462366	0.87[ASN][1000 genomes]
rs35692938	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4391399	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57190413	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57281571	0.89[ASN][1000 genomes]
rs58152103	0.87[ASN][1000 genomes]
rs6468690	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs6468691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986467	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004966	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7008019	0.90[ASN][1000 genomes]
rs7009315	1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7016477	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716454	1.00[JPT][hapmap]
rs717365	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs72674627	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72674643	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72674647	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72674650	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72674652	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674679	0.89[ASN][1000 genomes]
rs72674684	0.89[ASN][1000 genomes]
rs72674687	0.89[ASN][1000 genomes]
rs72674689	0.90[ASN][1000 genomes]
rs72674702	0.87[ASN][1000 genomes]
rs72676209	0.87[ASN][1000 genomes]
rs72676216	0.82[ASN][1000 genomes]
rs72676220	0.82[ASN][1000 genomes]
rs72676221	0.82[ASN][1000 genomes]
rs72676228	0.82[ASN][1000 genomes]
rs7462767	0.87[ASN][1000 genomes]
rs766675	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816355	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7816771	0.89[ASN][1000 genomes]
rs7816837	0.87[ASN][1000 genomes]
rs7829651	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832109	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7835824	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7837577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7838809	0.89[ASN][1000 genomes]
rs9693360	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
12	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
15	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3103100	ARHGEF12	trans	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100473200-100508000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:100473200-100510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100473400-100526000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:100473600-100508000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:100473600-100508000	Weak transcription	Small Intestine	intestine
6	chr8:100474000-100510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:100474400-100515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:100477200-100507400	Weak transcription	Osteobl	bone
9	chr8:100478200-100507200	Weak transcription	NH-A	brain
10	chr8:100479400-100508000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:100487000-100512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:100490600-100506600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
14	chr8:100492200-100508000	Weak transcription	Right Ventricle	heart
15	chr8:100493200-100510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:100493400-100511000	Weak transcription	HSMMtube	muscle
17	chr8:100494000-100508000	Weak transcription	Fetal Kidney	kidney
18	chr8:100494000-100516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:100494400-100508000	Weak transcription	Left Ventricle	heart
20	chr8:100494400-100508000	Weak transcription	Pancreas	Pancrea
21	chr8:100494400-100508000	Weak transcription	Psoas Muscle	Psoas
22	chr8:100494400-100511000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:100494400-100511200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:100494600-100511800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:100495200-100511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:100495200-100532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:100495400-100510400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:100495400-100511000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:100495600-100511200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:100496000-100511000	Weak transcription	Dnd41	blood
31	chr8:100496200-100510400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:100496200-100510800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:100496400-100537200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:100497400-100508000	Weak transcription	Spleen	Spleen
35	chr8:100497400-100510800	Weak transcription	HSMM	muscle
36	chr8:100499000-100511000	Weak transcription	Thymus	Thymus
37	chr8:100499000-100511000	Weak transcription	HepG2	liver
38	chr8:100499200-100511000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:100499400-100510800	Weak transcription	Ovary	ovary
40	chr8:100499400-100535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:100500000-100510800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:100500000-100511200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:100500200-100511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:100500200-100511000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:100500400-100511000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:100503200-100508000	Weak transcription	Right Atrium	heart
47	chr8:100503800-100536600	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:100504800-100508000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:100505000-100508000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:100505000-100510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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