Variant report

Variant	rs9306172
Chromosome Location	chr21:45475489-45475490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45438119..45440694-chr21:45475384..45477960,3	K562	blood:
2	chr21:45430666..45432570-chr21:45474186..45475949,2	MCF-7	breast:
3	chr21:45474928..45477593-chr21:45490413..45492194,2	K562	blood:
4	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 188 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs1005046	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1051981	0.84[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs1059813	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10854489	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11089111	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11089115	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs1131999	0.83[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs11700840	0.86[EUR][1000 genomes]
rs11700919	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12626672	0.81[EUR][1000 genomes]
rs12627239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13046297	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs13047030	0.89[EUR][1000 genomes]
rs13048551	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13049059	0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs13050630	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1858665	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2020945	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2020946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2020947	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2020948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2039272	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051260	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071135	0.80[CEU][hapmap]
rs2071142	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071143	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071146	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071147	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071152	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2073432	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2073433	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2073435	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2156428	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2187313	0.84[CEU][hapmap];0.90[TSI][hapmap]
rs2238704	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2238705	0.94[ASN][1000 genomes]
rs2238706	0.94[ASN][1000 genomes]
rs2238707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2238708	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2238709	0.89[ASN][1000 genomes]
rs2238710	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2238711	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2238712	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2238713	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2242950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2242953	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2242954	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2243348	0.92[ASN][1000 genomes]
rs2243999	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2245372	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2245380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2245386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2245462	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2247400	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2251267	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2255716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255828	0.88[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];0.95[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255922	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255955	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2256392	0.94[ASN][1000 genomes]
rs2256441	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2276530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277805	0.84[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs2277806	0.83[ASW][hapmap];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];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2299813	0.94[ASN][1000 genomes]
rs2299815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299818	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329706	0.80[EUR][1000 genomes]
rs2329707	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516521	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2776368	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838466	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838467	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2838469	0.89[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2838471	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838472	0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838474	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838476	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs2838477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838478	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs2838480	0.97[ASN][1000 genomes]
rs2838481	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838486	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838488	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838490	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838491	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838492	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838493	0.88[CEU][hapmap]
rs2838494	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838496	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838498	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838499	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838500	0.83[EUR][1000 genomes]
rs2838502	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs2838503	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs2838508	0.87[TSI][hapmap]
rs2838509	0.87[TSI][hapmap]
rs2850150	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2850153	0.82[AMR][1000 genomes]
rs2850154	0.81[EUR][1000 genomes]
rs2850155	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2850156	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2850157	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2855651	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2855652	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28859288	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35538274	0.87[EUR][1000 genomes]
rs35610725	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788097	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3788098	0.93[ASN][1000 genomes]
rs3788101	0.88[ASN][1000 genomes]
rs3788104	0.86[EUR][1000 genomes]
rs4818878	0.94[ASN][1000 genomes]
rs4818881	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4818882	0.85[EUR][1000 genomes]
rs4819366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4819370	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819372	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4819373	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819376	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819377	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819378	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819379	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819381	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4819383	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs56384549	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518345	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7277269	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7279319	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7279727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7280558	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap]
rs7280581	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7281270	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7281291	0.86[EUR][1000 genomes]
rs7281768	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281778	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7282324	0.83[CEU][hapmap]
rs7282643	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7283870	0.85[EUR][1000 genomes]
rs729882	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs756553	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs756554	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs756555	0.94[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes]
rs7676	0.84[CEU][hapmap];0.87[TSI][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8126754	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8126958	0.88[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8129971	0.94[ASN][1000 genomes]
rs8130647	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8132918	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133422	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133610	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885872	0.87[TSI][hapmap]
rs915772	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs915774	0.94[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs915878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9306171	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306174	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9680179	0.88[EUR][1000 genomes]
rs968713	0.83[CEU][hapmap]
rs968714	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9974165	0.94[ASN][1000 genomes]
rs9974315	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9975978	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9977564	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9978130	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9979882	0.87[EUR][1000 genomes]
rs9981257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9981485	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9982663	0.92[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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking 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	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9306172	PWP2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
5	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:45458000-45482800	Weak transcription	HMEC	breast
8	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:45459000-45475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr21:45459400-45478000	Weak transcription	Aorta	Aorta
12	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:45460000-45477800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:45463400-45480600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr21:45463400-45485200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr21:45463600-45485000	Strong transcription	Thymus	Thymus
17	chr21:45464200-45480000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr21:45465200-45485200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:45465800-45480000	Strong transcription	Dnd41	blood
20	chr21:45465800-45485000	Strong transcription	Fetal Thymus	thymus
21	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:45466000-45480800	Strong transcription	Primary T cells from cord blood	blood
23	chr21:45466000-45484400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr21:45466200-45480600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:45468200-45475600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:45468400-45475800	Weak transcription	Colonic Mucosa	Colon
27	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:45469000-45476600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:45469000-45480000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr21:45469000-45480400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr21:45469400-45475800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr21:45470400-45478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:45470400-45480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:45470600-45476200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr21:45470800-45480000	Strong transcription	GM12878-XiMat	blood
39	chr21:45471200-45477800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr21:45471200-45477800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:45471400-45480000	Strong transcription	Esophagus	oesophagus
42	chr21:45471400-45480400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr21:45471400-45487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:45471600-45477800	Strong transcription	K562	blood
45	chr21:45471600-45480000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr21:45471800-45477800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr21:45471800-45480600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
49	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
50	chr21:45472000-45477000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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