Variant report

Variant	rs2045057
Chromosome Location	chr2:99684929-99684930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99683250..99685988-chr2:99756129..99759687,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135951	Chromatin interaction
ENSG00000273045	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10153626	0.83[AMR][1000 genomes]
rs10165534	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10170063	0.81[EUR][1000 genomes]
rs10179043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10181344	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs10190421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10193019	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10193113	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10196680	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10202452	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1044575	0.85[ASN][1000 genomes]
rs10865029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11123761	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11123762	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11123763	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11123764	0.90[ASN][1000 genomes]
rs11123765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11123766	0.90[ASN][1000 genomes]
rs1115756	0.82[EUR][1000 genomes]
rs1115757	0.83[EUR][1000 genomes]
rs11677247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11677321	0.85[ASN][1000 genomes]
rs11678456	1.00[ASN][1000 genomes]
rs11684507	0.83[AFR][1000 genomes]
rs11684610	0.83[ASN][1000 genomes]
rs11685759	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11689265	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.84[ASN][1000 genomes]
rs11692699	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11693427	0.84[ASN][1000 genomes]
rs11695379	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11695751	0.94[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11883676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs11890338	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11897712	0.85[CEU][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs11900670	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12053372	0.85[CEU][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs12464710	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12467679	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12468807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12470471	0.90[CEU][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs12473029	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475034	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12477754	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477978	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12619780	0.87[AFR][1000 genomes]
rs12621007	0.84[ASN][1000 genomes]
rs12992218	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12992930	0.82[ASN][1000 genomes]
rs12995473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12999417	0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]
rs13004491	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13008496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13009147	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13018891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs13020339	0.88[ASN][1000 genomes]
rs13022329	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13023744	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13030961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13035311	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13396358	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13412640	0.88[AMR][1000 genomes]
rs13412764	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1349778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1349779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13798	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1453561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1453562	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs1530996	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1563107	0.84[GIH][hapmap];0.85[TSI][hapmap]
rs1563108	0.84[GIH][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap]
rs1580068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17708218	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];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17708262	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs17760953	0.85[CEU][hapmap];0.93[CHD][hapmap];0.84[TSI][hapmap]
rs1993230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084988	0.81[EUR][1000 genomes]
rs2123686	0.90[CEU][hapmap]
rs2171359	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs2309524	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];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309581	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]
rs2516827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2516828	0.90[ASN][1000 genomes]
rs2516829	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2516832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2516834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs2516836	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2632260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2632261	0.90[ASN][1000 genomes]
rs2632277	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs2632284	0.88[ASN][1000 genomes]
rs28648058	0.84[EUR][1000 genomes]
rs2964969	0.90[ASN][1000 genomes]
rs2969379	0.88[ASN][1000 genomes]
rs34252185	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34766932	0.93[ASN][1000 genomes]
rs35001733	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35461437	0.84[ASN][1000 genomes]
rs36071868	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4324365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs4340581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4374423	0.90[CEU][hapmap]
rs4402818	1.00[ASN][1000 genomes]
rs4588238	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs4622780	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4851179	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4851183	0.90[CEU][hapmap]
rs4851184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4851185	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs4851187	0.94[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62154638	0.80[EUR][1000 genomes]
rs62156364	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542852	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542858	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542863	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6542864	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.93[ASN][1000 genomes]
rs6542865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs6542869	0.88[ASN][1000 genomes]
rs6542870	0.85[ASN][1000 genomes]
rs6704766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6708576	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6712704	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6717723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6717729	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap];0.90[ASN][1000 genomes]
rs6721535	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6726618	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6732579	0.90[EUR][1000 genomes]
rs6735801	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6736064	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6737257	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6739579	0.93[ASN][1000 genomes]
rs6740035	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6740267	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6741772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741773	0.84[ASN][1000 genomes]
rs6743355	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6750876	0.90[CEU][hapmap]
rs6751927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6753063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs6753650	0.91[AFR][1000 genomes]
rs6754843	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6756650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs6756880	0.90[CEU][hapmap]
rs6757019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6757661	0.85[ASN][1000 genomes]
rs6759354	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720228	0.94[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7349217	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7558004	0.85[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571390	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs7572660	0.85[ASN][1000 genomes]
rs7577477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7584809	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7586608	0.86[CEU][hapmap]
rs7604557	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7605734	0.90[CEU][hapmap]
rs7605843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7606635	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs8179690	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs896886	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];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9308816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9710648	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs972768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9941561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs995617	0.85[CEU][hapmap];0.87[TSI][hapmap]

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	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2045057	LIPT1	cis	cerebellum	SCAN
rs2045057	TSGA10	cis	parietal	SCAN
rs2045057	ZAP70	cis	parietal	SCAN
rs2045057	LIPT1	cis	parietal	SCAN
rs2045057	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs2045057	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs2045057	FAM178B	cis	cerebellum	SCAN
rs2045057	TSGA10	cis	lymphoblastoid	seeQTL
rs2045057	TSGA10	cis	Lymphoblastoid	GTEx
rs2045057	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs2045057	TSGA10	cis	Thyroid	GTEx
rs2045057	TSGA10	cis	multi-tissue	Pritchard
rs2045057	TSGA10	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99682000-99685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:99682600-99685000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:99683200-99688600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:99683600-99685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:99683600-99688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links