Variant report

Variant	rs1541102
Chromosome Location	chr21:40628765-40628766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40628735..40630944-chr21:40634628..40637313,2	MCF-7	breast:
2	chr21:40628747..40631988-chr21:40636512..40639604,3	K562	blood:

Variant related genes	Relation type
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1041440	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427502	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1065242	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11088471	0.95[YRI][hapmap]
rs11910151	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11911112	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11911149	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12151994	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12481860	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12482181	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12483216	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12710453	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12710454	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047663	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13048178	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13049280	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13052882	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13339986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13625	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs14194	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1571709	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1888488	0.92[ASW][hapmap];0.86[YRI][hapmap]
rs1984022	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2026265	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2026267	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes]
rs2037925	0.92[ASW][hapmap];0.86[YRI][hapmap]
rs2142111	0.85[YRI][hapmap]
rs2150413	0.85[ASW][hapmap];0.89[YRI][hapmap]
rs2150414	0.85[ASW][hapmap];0.89[YRI][hapmap]
rs2150415	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2234543	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2245455	0.92[ASW][hapmap];0.81[YRI][hapmap]
rs2249651	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2410123	0.92[ASW][hapmap];0.96[YRI][hapmap]
rs2735306	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs2735309	0.84[AMR][1000 genomes]
rs2776307	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs2776308	0.84[AMR][1000 genomes]
rs2776309	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs28360661	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836920	0.84[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs2836923	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2836924	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2836925	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836927	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836928	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2836932	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2836933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836938	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836944	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836953	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2836955	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836956	0.85[ASW][hapmap];0.89[YRI][hapmap]
rs2836957	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836958	0.85[ASW][hapmap];0.89[YRI][hapmap]
rs2836964	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836965	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836967	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836968	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836972	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836973	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836974	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836977	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836981	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836982	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836985	0.85[ASW][hapmap]
rs2836986	0.96[YRI][hapmap]
rs2836987	0.92[ASW][hapmap];0.96[YRI][hapmap]
rs2836988	0.92[ASW][hapmap];0.86[YRI][hapmap]
rs34035316	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34176878	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34294410	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34394827	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34433511	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34478864	0.83[AMR][1000 genomes]
rs34578707	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34672724	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34978594	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35064900	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35068861	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123057	0.84[AMR][1000 genomes]
rs35386515	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35391055	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35560196	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35571600	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35774464	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36113648	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs428602	0.89[YRI][hapmap]
rs4624474	0.92[ASW][hapmap];0.86[YRI][hapmap]
rs4817996	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55836299	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56049536	0.86[AMR][1000 genomes]
rs56306759	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6517513	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6517514	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6517519	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6517521	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6517523	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6517526	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517527	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517533	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517538	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66465538	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68004583	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68090597	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71184665	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7277978	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7278297	0.89[YRI][hapmap]
rs7280375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7281853	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs7282624	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283420	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283516	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7283569	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221174	0.86[AMR][1000 genomes]
rs73221193	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7354783	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127087	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8128026	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8128102	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128191	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8128620	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128734	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8128827	0.84[AMR][1000 genomes]
rs8128894	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8129147	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8129303	0.84[AMR][1000 genomes]
rs8129355	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8129416	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8130984	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131965	0.90[AMR][1000 genomes]
rs8132285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8132295	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8132333	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8132419	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8132568	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8133146	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8134733	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941894	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981301	0.85[YRI][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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs1541102	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs1541102	PSMG1	cis	Artery Tibial	GTEx
rs1541102	BRWD1	cis	cerebellum	SCAN
rs1541102	PSMG1	cis	Esophagus Mucosa	GTEx
rs1541102	PSMG1	cis	parietal	SCAN
rs1541102	HMGN1	cis	lymphoblastoid	seeQTL
rs1541102	DSCR3	cis	cerebellum	SCAN
rs1541102	DSCR2	cis	normal skin	skin_eQTL
rs1541102	LOC643790	trans	multi-tissue	Pritchard
rs1541102	HMGN1	cis	multi-tissue	Pritchard
rs1541102	PSMG1	cis	lung	GTEx
rs1541102	BRWD1	cis	multi-tissue	Pritchard
rs1541102	BRWD1	cis	parietal	SCAN
rs1541102	DSCR2	cis	uninvolved skin	skin_eQTL
rs1541102	HMGN1	cis	brain	seeQTL
rs1541102	PSMG1	cis	Muscle Skeletal	GTEx
rs1541102	DSCR2	cis	multi-tissue	Pritchard
rs1541102	PSMG1	cis	lymphoblastoid	seeQTL
rs1541102	PIGP	cis	parietal	SCAN
rs1541102	CLIC6	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
2	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:40565400-40653600	Strong transcription	Dnd41	blood
9	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:40572000-40636800	Weak transcription	Psoas Muscle	Psoas
11	chr21:40573800-40631000	Weak transcription	Small Intestine	intestine
12	chr21:40581400-40635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr21:40593400-40650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr21:40597200-40635600	Weak transcription	Fetal Heart	heart
16	chr21:40598200-40629800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:40603200-40653400	Weak transcription	Right Atrium	heart
18	chr21:40608400-40632200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:40608400-40632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:40608400-40634200	Weak transcription	NHLF	lung
21	chr21:40608400-40638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:40608600-40636400	Weak transcription	Aorta	Aorta
24	chr21:40609800-40635400	Weak transcription	Fetal Brain Male	brain
25	chr21:40613400-40652000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr21:40613800-40651000	Strong transcription	Fetal Thymus	thymus
27	chr21:40614000-40654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:40614600-40654200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:40614800-40635000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:40614800-40652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr21:40615800-40639800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr21:40616400-40630600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:40616400-40631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr21:40616400-40651800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr21:40616600-40631400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:40617400-40635200	Weak transcription	Colonic Mucosa	Colon
37	chr21:40618000-40632200	Weak transcription	NHEK	skin
38	chr21:40618000-40659200	Weak transcription	Stomach Mucosa	stomach
39	chr21:40618400-40635400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr21:40619000-40638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:40619400-40656200	Weak transcription	Ovary	ovary
42	chr21:40619600-40635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
44	chr21:40619800-40629600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr21:40620000-40635200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:40620000-40640400	Weak transcription	A549	lung
47	chr21:40620200-40636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr21:40620400-40635400	Weak transcription	HUVEC	blood vessel
49	chr21:40620800-40636800	Weak transcription	Spleen	Spleen
50	chr21:40621600-40630000	Weak transcription	Placenta Amnion	Placenta Amnion

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