Variant report

Variant	rs3014210
Chromosome Location	chr1:46066608-46066609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46059543..46063756-chr1:46065868..46068910,6	K562	blood:
2	chr1:45985772..45988873-chr1:46066566..46070131,3	K562	blood:
3	chr1:45810314..45813113-chr1:46064660..46067353,2	K562	blood:
4	chr1:46056677..46058691-chr1:46065641..46067406,2	MCF-7	breast:
5	chr1:46048104..46051380-chr1:46065834..46070517,6	K562	blood:
6	chr1:46064211..46065793-chr1:46066474..46069082,2	K562	blood:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 205 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs10430105	0.92[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10430123	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap]
rs10430124	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap]
rs10749856	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789465	0.80[CHD][hapmap]
rs10789467	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10789468	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10789470	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10789471	0.91[CEU][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap]
rs1084086	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890333	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890334	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10890335	0.91[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10890336	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890337	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890340	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890341	0.91[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10890342	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890343	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890344	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10890346	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap]
rs10890347	0.82[CHD][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs11211129	0.85[CHD][hapmap]
rs11211142	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211145	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211146	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211147	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211149	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211151	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211152	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11211157	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211158	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211159	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211160	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs11211161	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11211162	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11211163	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211165	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211166	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211168	0.92[CEU][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs11211169	0.92[CEU][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs11211171	0.92[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs11211173	0.92[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs11211177	0.92[CEU][hapmap];0.92[CHD][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap]
rs11211178	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs11211181	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap]
rs1135812	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1135850	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12022673	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12023439	0.91[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12024590	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12025613	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12027622	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12037459	0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12037803	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12041197	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12041677	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12043945	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045096	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12045451	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12047629	0.82[EUR][1000 genomes]
rs12048866	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12049027	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12070775	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12076580	0.82[MEX][hapmap];0.84[TSI][hapmap]
rs12081175	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12091503	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12743512	0.80[CHD][hapmap]
rs1541131	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1547924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1547925	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1972410	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2050376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2088102	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs2152078	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2230657	0.91[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2230658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2230659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2253862	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2275085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275086	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2275276	0.80[CHD][hapmap]
rs28361459	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28370457	0.92[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap]
rs28375469	0.92[CEU][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs28406914	0.81[EUR][1000 genomes]
rs28432365	0.81[EUR][1000 genomes]
rs28438704	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28442079	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28474773	0.81[EUR][1000 genomes]
rs28495425	0.81[EUR][1000 genomes]
rs28528139	0.81[EUR][1000 genomes]
rs28550303	0.92[CEU][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs28564319	0.81[EUR][1000 genomes]
rs28647556	0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap]
rs28719889	0.92[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs28789495	0.81[EUR][1000 genomes]
rs28817701	0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs28890893	0.92[CEU][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs2934857	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2934858	0.83[ASN][1000 genomes]
rs2934859	0.92[CHD][hapmap];0.84[JPT][hapmap]
rs2991972	0.92[CHD][hapmap];0.84[JPT][hapmap]
rs2991976	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2991977	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2991978	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2991979	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2991981	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2991983	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2991985	0.91[ASN][1000 genomes]
rs2991986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2991987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2991988	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2991989	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2993263	0.92[CHD][hapmap];0.84[JPT][hapmap]
rs3013595	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3013596	0.83[ASN][1000 genomes]
rs3013597	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3014212	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3014213	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3014216	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3014218	0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3014234	0.82[AMR][1000 genomes]
rs3014235	0.96[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3014236	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3014237	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3014238	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3014239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3014240	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3014241	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap]
rs3014242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes]
rs3014243	0.81[ASN][1000 genomes]
rs3014245	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3014246	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3014248	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3014249	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3014251	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811435	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3811436	0.91[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3935296	0.80[EUR][1000 genomes]
rs4274104	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs4390216	0.84[TSI][hapmap]
rs4391704	0.89[CHB][hapmap]
rs4415615	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4431884	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4439382	0.92[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4468203	0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4559551	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4564187	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4586014	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4607935	0.91[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4609469	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4626927	0.82[CHD][hapmap]
rs4660312	0.80[CHB][hapmap];0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs4660313	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4660879	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4660880	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4660882	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4660883	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap]
rs499600	0.82[CHB][hapmap]
rs5021934	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs512026	0.81[JPT][hapmap]
rs518216	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs518365	0.85[CHD][hapmap]
rs563799	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61784793	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61784795	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61784796	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61784803	0.80[EUR][1000 genomes]
rs622798	0.92[CHD][hapmap];0.84[JPT][hapmap]
rs6429574	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6429575	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6429576	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs659437	0.86[ASN][1000 genomes]
rs6656279	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6658700	0.92[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs6665808	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66682726	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6671802	0.83[ASN][1000 genomes]
rs6686944	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6690926	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6694889	0.83[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6697821	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap]
rs6699418	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6699444	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6703748	0.91[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688483	0.83[ASN][1000 genomes]
rs7529699	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7540578	0.82[CHD][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7545118	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7547414	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8179296	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8179402	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs937291	0.80[CHD][hapmap]
rs9429171	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9429172	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9793568	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
3	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
4	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3014210	MED8	cis	cerebellum	SCAN
rs3014210	RAD54L	cis	parietal	SCAN
rs3014210	IPP	cis	lymphoblastoid	seeQTL
rs3014210	NSUN4	cis	cerebellum	SCAN
rs3014210	CCDC17	cis	multi-tissue	Pritchard
rs3014210	GPBP1L1	cis	Muscle Skeletal	GTEx
rs3014210	NEIL3	trans	cerebellum	SCAN
rs3014210	CYP4Z2P	cis	cerebellum	SCAN
rs3014210	IPP	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46051400-46069800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
3	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
4	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:46052800-46066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:46052800-46067800	Weak transcription	NHLF	lung
7	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:46053800-46071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:46055000-46067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:46055200-46090400	Strong transcription	Dnd41	blood
18	chr1:46055800-46071600	Weak transcription	Left Ventricle	heart
19	chr1:46056000-46079000	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:46056200-46071800	Weak transcription	Fetal Brain Male	brain
21	chr1:46056800-46073400	Weak transcription	Right Ventricle	heart
22	chr1:46056800-46074000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:46057000-46072600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:46057400-46073000	Weak transcription	Gastric	stomach
25	chr1:46057400-46081600	Weak transcription	Psoas Muscle	Psoas
26	chr1:46057800-46072200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:46060600-46068600	Weak transcription	Fetal Lung	lung
28	chr1:46060600-46069600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:46060800-46068200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:46060800-46069600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:46060800-46069800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:46060800-46076200	Weak transcription	Esophagus	oesophagus
33	chr1:46061000-46067800	Weak transcription	Fetal Intestine Large	intestine
34	chr1:46061000-46068200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:46061000-46068200	Weak transcription	Thymus	Thymus
36	chr1:46061000-46072600	Weak transcription	Ovary	ovary
37	chr1:46061000-46072800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:46061000-46073000	Weak transcription	Aorta	Aorta
39	chr1:46061000-46073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:46061000-46073200	Weak transcription	Pancreas	Pancrea
41	chr1:46061000-46073200	Weak transcription	Spleen	Spleen
42	chr1:46061000-46076200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:46061000-46078800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:46061200-46068200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:46061200-46070400	Weak transcription	NHEK	skin
46	chr1:46061200-46070600	Weak transcription	Brain Germinal Matrix	brain
47	chr1:46061400-46067800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:46061400-46068200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:46061400-46068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:46061400-46068200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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