Variant report

Variant	rs2309581
Chromosome Location	chr2:99784292-99784293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99764324..99767268-chr2:99782707..99784525,2	K562	blood:
2	chr2:99783012..99785581-chr2:99788813..99790457,2	MCF-7	breast:
3	chr2:99772739..99776053-chr2:99782752..99785644,3	K562	blood:
4	chr2:99772683..99774239-chr2:99783479..99785071,2	K562	blood:
5	chr2:99782491..99787778-chr2:99795073..99800536,8	MCF-7	breast:
6	chr2:99770250..99773199-chr2:99783967..99787710,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241962	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000144182	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10165534	0.85[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10196680	0.85[ASN][1000 genomes]
rs1044575	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10865029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123762	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123763	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123764	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123770	0.84[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs1133978	0.84[EUR][1000 genomes]
rs11674894	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11677321	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11678456	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs11684507	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11684610	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11685759	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs11689265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11692336	0.84[EUR][1000 genomes]
rs11692699	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11693427	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11695379	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11890338	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11895749	0.84[EUR][1000 genomes]
rs11900670	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12464710	0.82[ASN][1000 genomes]
rs12467679	0.85[ASN][1000 genomes]
rs12468807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs12477754	0.85[ASN][1000 genomes]
rs12477978	0.81[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs12619780	0.83[EUR][1000 genomes]
rs12621007	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12987548	0.82[EUR][1000 genomes]
rs12991189	0.80[EUR][1000 genomes]
rs12992218	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12992930	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12995473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13000731	0.87[EUR][1000 genomes]
rs13004491	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13012481	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13020339	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13022329	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13023479	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13023501	0.82[EUR][1000 genomes]
rs13023744	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13026928	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033012	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1453561	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1453562	0.83[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap]
rs1453563	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs17708218	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs17759607	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17760953	0.93[CHD][hapmap]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs2045057	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs2171359	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2171362	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309524	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs2516827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516828	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516830	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2516832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516833	0.85[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2516836	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2632261	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2632284	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964969	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2969379	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34252185	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34272114	0.84[EUR][1000 genomes]
rs34766932	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35461437	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36071868	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324365	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4347885	0.86[EUR][1000 genomes]
rs4402818	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4588238	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4850897	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4851187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6542852	0.82[ASN][1000 genomes]
rs6542858	0.85[ASN][1000 genomes]
rs6542863	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542864	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542866	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6542869	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542870	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs6708576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6708878	0.87[EUR][1000 genomes]
rs6712704	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6717729	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6726618	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.85[ASN][1000 genomes]
rs6739579	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6741772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741773	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743355	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6751927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753650	0.88[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6757661	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6759354	0.85[ASN][1000 genomes]
rs720228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7349217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558004	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs7572660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7584809	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7604557	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608938	0.87[EUR][1000 genomes]
rs8179690	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896886	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs2309581	MITD1	cis	Esophagus Mucosa	GTEx
rs2309581	TSGA10	cis	Lymphoblastoid	GTEx
rs2309581	LIPT1	cis	normal skin	skin_eQTL
rs2309581	LIPT1	cis	multi-tissue	Pritchard
rs2309581	ANKRD23	cis	parietal	SCAN
rs2309581	TSGA10	cis	cerebellum	SCAN
rs2309581	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs2309581	LYG1	cis	cerebellum	SCAN
rs2309581	TSGA10	cis	Thyroid	GTEx
rs2309581	MITD1	cis	Nerve Tibial	GTEx
rs2309581	TSGA10	cis	multi-tissue	Pritchard
rs2309581	ANKRD36	cis	parietal	SCAN
rs2309581	LIPT1	cis	uninvolved skin	skin_eQTL
rs2309581	TSGA10	cis	lung	GTEx
rs2309581	LIPT1	cis	lesional skin	skin_eQTL
rs2309581	REV1L	cis	multi-tissue	Pritchard
rs2309581	TSGA10	cis	lymphoblastoid	seeQTL
rs2309581	LIPT1	cis	cerebellum	SCAN
rs2309581	LIPT1	cis	parietal	SCAN
rs2309581	TSGA10	cis	parietal	SCAN
rs2309581	CNGA3	cis	parietal	SCAN
rs2309581	TSGA10	cis	Esophagus Mucosa	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99772200-99795600	Weak transcription	Gastric	stomach
2	chr2:99772400-99784800	Weak transcription	Pancreas	Pancrea
3	chr2:99772400-99786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:99772400-99786200	Weak transcription	Psoas Muscle	Psoas
5	chr2:99772400-99795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:99772400-99795600	Weak transcription	Small Intestine	intestine
7	chr2:99772400-99796400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:99772400-99796600	Weak transcription	Right Ventricle	heart
9	chr2:99772400-99796800	Weak transcription	Colonic Mucosa	Colon
10	chr2:99772400-99797000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:99772600-99784400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:99772600-99784800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:99772600-99784800	Weak transcription	NH-A	brain
14	chr2:99772600-99786200	Weak transcription	NHLF	lung
15	chr2:99772600-99795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:99772600-99796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:99772600-99796600	Weak transcription	Fetal Kidney	kidney
18	chr2:99772600-99797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:99772800-99786000	Weak transcription	Hela-S3	cervix
20	chr2:99772800-99796400	Weak transcription	Fetal Heart	heart
21	chr2:99773000-99796400	Weak transcription	Fetal Brain Male	brain
22	chr2:99773200-99790800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:99773600-99785000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:99773600-99790400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:99774000-99796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:99774200-99786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:99774600-99795400	Weak transcription	K562	blood
28	chr2:99774800-99784800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:99775000-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:99775200-99788600	Weak transcription	Fetal Intestine Small	intestine
31	chr2:99775200-99790400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:99775400-99795400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:99775800-99790400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:99776400-99795600	Weak transcription	Fetal Lung	lung
35	chr2:99776600-99795200	Weak transcription	Brain Angular Gyrus	brain
36	chr2:99778200-99785200	Strong transcription	Primary T cells from cord blood	blood
37	chr2:99779200-99784400	Weak transcription	Fetal Intestine Large	intestine
38	chr2:99779200-99786200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:99779400-99795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:99780400-99790400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:99780600-99790400	Strong transcription	Dnd41	blood
42	chr2:99780600-99791000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:99780800-99787200	Strong transcription	Fetal Stomach	stomach
44	chr2:99780800-99791000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:99781000-99789800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:99781000-99790400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:99781000-99790400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:99781000-99790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:99781000-99790800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:99781000-99790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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