Variant report

Variant	rs8080823
Chromosome Location	chr17:17864048-17864049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17862264..17864239-chr17:17866031..17867692,2	MCF-7	breast:
2	chr17:17861501..17864347-chr17:17877911..17879959,2	MCF-7	breast:
3	chr17:17855039..17859683-chr17:17860221..17864104,5	MCF-7	breast:
4	chr17:17861929..17864204-chr17:17866706..17869087,2	K562	blood:
5	chr17:17862068..17864247-chr17:17920518..17922491,2	K562	blood:
6	chr17:17861263..17864365-chr17:17940983..17943092,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171953	Chromatin interaction
ENSG00000141034	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10048206	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1052299	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs11078400	0.91[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs11078403	0.90[EUR][1000 genomes]
rs11078404	0.95[EUR][1000 genomes]
rs11078405	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078406	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs11078407	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11078408	0.87[GIH][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs1108648	0.80[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11650649	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11650890	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652881	0.82[JPT][hapmap];0.88[MEX][hapmap]
rs11656665	0.82[JPT][hapmap]
rs11656840	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11657074	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11657423	1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs11657773	0.86[EUR][1000 genomes]
rs11657845	0.87[EUR][1000 genomes]
rs11869536	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11870660	0.87[GIH][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11871899	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452219	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452254	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600546	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12603148	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12936037	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12941039	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12943500	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.91[ASN][1000 genomes]
rs12953299	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs16960744	0.83[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs1889014	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1889018	0.80[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap]
rs2236513	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs2350976	0.82[JPT][hapmap];0.88[MEX][hapmap]
rs2350977	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28428991	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2955355	0.84[MEX][hapmap]
rs2955356	0.84[MEX][hapmap]
rs2955358	0.84[MEX][hapmap]
rs2955359	0.84[MEX][hapmap]
rs2955371	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2955372	0.84[MEX][hapmap]
rs2955378	0.84[MEX][hapmap]
rs2955380	0.84[MEX][hapmap]
rs2955382	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs2955383	0.84[MEX][hapmap]
rs2955384	0.84[MEX][hapmap]
rs2955385	0.84[MEX][hapmap]
rs3183702	0.87[CEU][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs3744115	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs3818717	0.82[JPT][hapmap]
rs4077198	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4077828	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4244602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4257260	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4299203	0.87[GIH][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4321247	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4341796	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343339	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4368210	0.84[MEX][hapmap]
rs4413022	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4414547	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4459604	0.88[MEX][hapmap]
rs4470201	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4471742	0.82[EUR][1000 genomes]
rs4534911	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553680	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584886	0.83[MEX][hapmap]
rs4616340	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924822	0.87[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap]
rs4924823	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs4924832	0.84[MEX][hapmap]
rs4925119	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs4925120	0.83[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs4925123	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925125	0.95[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs4925126	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs4925129	0.93[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];0.92[MKK][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925138	0.82[JPT][hapmap];0.84[MEX][hapmap]
rs5002487	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57728924	0.82[EUR][1000 genomes]
rs59304093	0.80[AMR][1000 genomes]
rs62064156	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064158	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62072049	0.86[EUR][1000 genomes]
rs6502619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6502622	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6502624	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6502625	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502626	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502627	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502629	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502632	0.84[MEX][hapmap]
rs66531105	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67253360	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7207043	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7207395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208190	0.93[EUR][1000 genomes]
rs7212167	0.84[MEX][hapmap]
rs7213225	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7214002	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7214536	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7219320	0.84[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7222480	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224815	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359509	0.81[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap]
rs7406982	0.84[MEX][hapmap]
rs7501812	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap]
rs7503334	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065416	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8065497	0.91[ASN][1000 genomes]
rs8065563	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065970	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8066560	0.82[GIH][hapmap]
rs8066982	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8068175	0.87[GIH][hapmap];0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs8068820	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8070128	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070624	0.95[ASN][1000 genomes]
rs8070722	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8070748	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8073001	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8075965	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8076747	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8077338	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077530	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8078105	1.00[CEU][hapmap];0.92[MEX][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8078138	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079321	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs8080061	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs854762	0.82[JPT][hapmap];0.83[MEX][hapmap]
rs854764	0.82[JPT][hapmap];0.84[MEX][hapmap]
rs854765	0.82[JPT][hapmap]
rs854766	0.82[JPT][hapmap];0.87[MEX][hapmap]
rs854813	0.82[JPT][hapmap];0.84[MEX][hapmap]
rs950966	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9635697	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9635698	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9890341	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9891957	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9895750	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9899634	1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs9902941	0.82[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap]
rs9904163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905284	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9907246	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9907287	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs9908299	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9908832	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9912895	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913277	0.88[MEX][hapmap]
rs9913724	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9914127	0.82[EUR][1000 genomes]
rs9915248	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8080823	TOM1L2	cis	cerebellum	SCAN
rs8080823	SREBF1	cis	Whole Blood	GTEx
rs8080823	TOM1L2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17860400-17864200	Enhancers	Fetal Heart	heart
2	chr17:17860600-17864200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr17:17860600-17864200	Enhancers	Fetal Intestine Large	intestine
4	chr17:17860800-17864200	Enhancers	Fetal Intestine Small	intestine
5	chr17:17861200-17864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:17861400-17864200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr17:17861400-17864200	Enhancers	Brain Substantia Nigra	brain
8	chr17:17861600-17864200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:17862000-17866400	Weak transcription	K562	blood
10	chr17:17862200-17864200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr17:17862200-17874000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:17862400-17864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:17862400-17868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:17862400-17874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:17862600-17864800	Enhancers	Hela-S3	cervix
16	chr17:17862600-17868600	Weak transcription	Esophagus	oesophagus
17	chr17:17862800-17866400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:17863000-17866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:17863200-17864400	Enhancers	Stomach Mucosa	stomach
20	chr17:17863200-17868600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:17863400-17864200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:17863400-17864200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:17863400-17864200	Enhancers	Brain Angular Gyrus	brain
24	chr17:17863400-17864200	Enhancers	NHEK	skin
25	chr17:17863400-17864600	Enhancers	Primary T cells from cord blood	blood
26	chr17:17863400-17866400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:17863400-17874000	Weak transcription	NH-A	brain
28	chr17:17863600-17864200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr17:17863600-17864200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:17863600-17864200	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:17863600-17864200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:17863600-17864200	Enhancers	GM12878-XiMat	blood
33	chr17:17863600-17864200	Enhancers	NHLF	lung
34	chr17:17863600-17864400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr17:17863600-17864400	Enhancers	Osteobl	bone
36	chr17:17863600-17864600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr17:17863600-17864600	Enhancers	Small Intestine	intestine
38	chr17:17863600-17864800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr17:17863600-17865000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:17863600-17866400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:17863600-17866400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr17:17863600-17866400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr17:17863600-17867200	Weak transcription	Fetal Kidney	kidney
44	chr17:17863600-17869800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:17863600-17873800	Weak transcription	HSMMtube	muscle
46	chr17:17863800-17864200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:17863800-17864200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:17863800-17864200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:17863800-17864200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr17:17863800-17864200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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