Variant report

Variant	rs6708576
Chromosome Location	chr2:99801308-99801309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99801177-99801393	HepG2	liver:	n/a	n/a
2	TCF12	chr2:99801167-99801644	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr2:99801255-99801330	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:99801262-99801316	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99796817..99802176-chr2:99802213..99807656,6	MCF-7	breast:
2	chr2:99800478..99805908-chr2:99949969..99953911,6	MCF-7	breast:

Variant related genes	Relation type
MITD1	TF binding region
MRPL30	TF binding region
ENSG00000185414	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10165534	0.82[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10196680	0.82[ASN][1000 genomes]
rs1044575	0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123761	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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123762	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123763	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123764	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123766	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123770	0.84[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs1133978	0.84[EUR][1000 genomes]
rs11674894	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11677321	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678456	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11684507	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11684610	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11685759	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11689265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11692336	0.84[EUR][1000 genomes]
rs11692699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11693427	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11695379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890338	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11895749	0.84[EUR][1000 genomes]
rs11900670	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12467679	0.82[ASN][1000 genomes]
rs12468807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12477754	0.82[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12619780	0.83[EUR][1000 genomes]
rs12621007	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987548	0.82[EUR][1000 genomes]
rs12992218	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12992930	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12995473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13000731	0.86[EUR][1000 genomes]
rs13004491	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13012481	0.86[EUR][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020339	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13022329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13023479	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13023501	0.82[EUR][1000 genomes]
rs13023744	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13025880	0.92[AFR][1000 genomes]
rs13026928	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13033012	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13798	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453561	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs1453562	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1453563	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs17708218	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs17759607	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs17760953	0.93[CHD][hapmap]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2045057	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2171359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171362	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309524	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs2309581	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]
rs2516827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516828	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516829	1.00[ASW][hapmap];0.92[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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516833	0.85[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2516836	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2632261	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2632284	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964969	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2969379	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34252185	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34272114	0.83[EUR][1000 genomes]
rs34766932	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35461437	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36071868	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4324365	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4347885	0.85[EUR][1000 genomes]
rs4402818	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4588238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs4850897	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs4851187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6542858	0.82[ASN][1000 genomes]
rs6542863	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542866	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6542869	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542870	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs6708878	0.87[EUR][1000 genomes]
rs6712704	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6726618	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.82[ASN][1000 genomes]
rs6739579	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6741772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741773	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6743355	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6751927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753650	0.87[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs6757661	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759354	0.82[ASN][1000 genomes]
rs720228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7349217	0.94[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];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558004	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7572660	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7584809	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7604557	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608938	0.87[EUR][1000 genomes]
rs8179690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896886	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:21)

SNP	Gene	Cis/trans	Tissue	Source
rs6708576	LIPT1	cis	parietal	SCAN
rs6708576	ANKRD23	cis	parietal	SCAN
rs6708576	LIPT1	cis	uninvolved skin	skin_eQTL
rs6708576	TSGA10	cis	parietal	SCAN
rs6708576	TSGA10	cis	Lymphoblastoid	GTEx
rs6708576	LIPT1	cis	lesional skin	skin_eQTL
rs6708576	LIPT1	cis	cerebellum	SCAN
rs6708576	LIPT1	cis	normal skin	skin_eQTL
rs6708576	MITD1	Cis_1M	lymphoblastoid	RTeQTL
rs6708576	TSGA10	cis	multi-tissue	Pritchard
rs6708576	LYG1	cis	cerebellum	SCAN
rs6708576	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs6708576	TSGA10	cis	Esophagus Mucosa	GTEx
rs6708576	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs6708576	TSGA10	cis	lymphoblastoid	seeQTL
rs6708576	TSGA10	cis	cerebellum	SCAN
rs6708576	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs6708576	TSGA10	cis	Thyroid	GTEx
rs6708576	ANKRD36	cis	parietal	SCAN
rs6708576	LYG1	cis	Skin Sun Exposed Lower leg	GTEx
rs6708576	CNGA3	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99798400-99803600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:99798400-99803600	Weak transcription	Left Ventricle	heart
3	chr2:99798400-99807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:99798400-99812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:99798600-99801600	Enhancers	Pancreas	Pancrea
6	chr2:99798600-99803000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:99798600-99803400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:99798600-99803400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:99798600-99803400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:99798600-99804600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:99798600-99805400	Weak transcription	Psoas Muscle	Psoas
12	chr2:99798600-99805600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:99798600-99808000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:99798600-99808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:99798600-99812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:99798600-99812000	Weak transcription	Aorta	Aorta
17	chr2:99798600-99814000	Weak transcription	Right Ventricle	heart
18	chr2:99798600-99814800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:99798600-99815200	Weak transcription	Esophagus	oesophagus
20	chr2:99798600-99822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
22	chr2:99798800-99801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:99798800-99801600	Enhancers	Dnd41	blood
24	chr2:99798800-99802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:99798800-99802600	Weak transcription	Fetal Stomach	stomach
26	chr2:99798800-99802800	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:99798800-99803000	Weak transcription	HSMMtube	muscle
28	chr2:99798800-99803400	Weak transcription	Primary B cells from cord blood	blood
29	chr2:99798800-99803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:99798800-99803400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:99798800-99803400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:99798800-99803400	Weak transcription	Spleen	Spleen
33	chr2:99798800-99803600	Weak transcription	Fetal Intestine Small	intestine
34	chr2:99798800-99804400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:99798800-99804800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:99798800-99805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:99798800-99805400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:99798800-99805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:99798800-99805600	Weak transcription	Brain Substantia Nigra	brain
40	chr2:99798800-99805600	Weak transcription	Colonic Mucosa	Colon
41	chr2:99798800-99805600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:99798800-99805600	Weak transcription	NH-A	brain
43	chr2:99798800-99806400	Weak transcription	Thymus	Thymus
44	chr2:99798800-99806600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:99798800-99807800	Weak transcription	NHDF-Ad	bronchial
46	chr2:99798800-99810800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:99798800-99812000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:99798800-99812000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:99798800-99812000	Weak transcription	Fetal Kidney	kidney
50	chr2:99798800-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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