Variant report

Variant	rs16827671
Chromosome Location	chr1:150738759-150738760
allele	C/T
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	SPI1	chr1:150737631-150738761	HL-60	blood:	n/a	chr1:150738311-150738320 chr1:150738308-150738321 chr1:150738309-150738322

Variant related genes	Relation type
CTSS	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 39 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1027699	0.84[EUR][1000 genomes]
rs10305672	0.81[EUR][1000 genomes]
rs10305673	0.84[EUR][1000 genomes]
rs10305704	0.82[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs10305711	0.82[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs10305714	0.82[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs10305720	0.86[EUR][1000 genomes]
rs10399947	0.81[EUR][1000 genomes]
rs10788792	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap]
rs10788794	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888391	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888392	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888393	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888394	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888395	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10888397	0.88[CEU][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs10888398	1.00[CEU][hapmap];0.82[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs11204691	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs11204696	0.80[ASN][1000 genomes]
rs11204697	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11204698	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs11204699	0.80[ASN][1000 genomes]
rs11204704	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11204713	0.82[ASN][1000 genomes]
rs11204717	0.84[ASN][1000 genomes]
rs11204718	0.83[ASN][1000 genomes]
rs11204722	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11204723	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204726	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204733	0.81[EUR][1000 genomes]
rs11204749	0.87[CEU][hapmap]
rs1134067	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1136808	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11552229	0.82[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs11581757	0.88[CEU][hapmap];0.80[GIH][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs11582281	0.83[EUR][1000 genomes]
rs11582840	0.81[ASN][1000 genomes]
rs11584184	0.84[ASN][1000 genomes]
rs11584575	0.84[ASN][1000 genomes]
rs11586422	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11587444	0.92[ASW][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11588404	0.81[ASN][1000 genomes]
rs11589458	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs11589886	0.82[EUR][1000 genomes]
rs11800855	0.90[EUR][1000 genomes]
rs11803569	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11803940	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs11804276	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11805308	0.81[ASN][1000 genomes]
rs11807409	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11807450	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[ASN][1000 genomes]
rs12063547	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs12068264	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12072339	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs12075597	0.83[EUR][1000 genomes]
rs12077833	0.81[ASN][1000 genomes]
rs12085336	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12086472	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs12089989	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12402939	0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap]
rs12403255	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs12404949	0.82[AMR][1000 genomes]
rs12409208	0.88[CEU][hapmap];0.93[GIH][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs12410869	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs1336898	0.80[ASN][1000 genomes]
rs1336899	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs1336900	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[ASN][1000 genomes]
rs1415148	0.92[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1532770	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17606613	0.81[ASN][1000 genomes]
rs17658705	0.92[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs17660092	0.84[EUR][1000 genomes]
rs1889740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1889741	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1972060	0.81[EUR][1000 genomes]
rs1977714	0.81[ASN][1000 genomes]
rs1977715	0.81[ASN][1000 genomes]
rs1977716	0.81[ASN][1000 genomes]
rs2089082	0.84[EUR][1000 genomes]
rs2124952	0.88[CEU][hapmap]
rs2184833	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs2228099	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs2230061	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2256355	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs2271076	0.81[EUR][1000 genomes]
rs2272214	0.88[CEU][hapmap];0.80[GIH][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs2275235	0.92[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275236	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs2280078	0.95[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs2280627	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2864869	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2864871	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2864873	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2864882	0.86[EUR][1000 genomes]
rs2867297	0.80[EUR][1000 genomes]
rs2867300	0.81[ASN][1000 genomes]
rs2867301	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs2867302	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs35111350	0.84[ASN][1000 genomes]
rs36008098	0.84[EUR][1000 genomes]
rs3754212	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768005	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs3768013	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes]
rs3768015	0.82[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs3768016	0.82[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs3768018	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4319334	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4451553	0.84[CEU][hapmap];0.80[GIH][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap]
rs4509581	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4537557	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4970931	0.81[EUR][1000 genomes]
rs4970980	0.85[EUR][1000 genomes]
rs4970984	0.86[EUR][1000 genomes]
rs4970985	0.86[EUR][1000 genomes]
rs57818453	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59337856	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587516	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs6587518	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs6587542	0.81[EUR][1000 genomes]
rs6587756	0.91[CHB][hapmap]
rs6655975	0.86[CHB][hapmap];0.83[MEX][hapmap]
rs6657388	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660845	0.81[EUR][1000 genomes]
rs6661415	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs6669855	0.81[EUR][1000 genomes]
rs6671737	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6678013	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap]
rs6681990	0.84[ASN][1000 genomes]
rs66847267	0.86[EUR][1000 genomes]
rs6685702	0.80[ASN][1000 genomes]
rs6686064	0.80[EUR][1000 genomes]
rs6692960	0.84[ASN][1000 genomes]
rs6693120	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700022	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs72702536	0.81[ASN][1000 genomes]
rs72702552	0.81[ASN][1000 genomes]
rs72702554	0.81[ASN][1000 genomes]
rs72702556	0.81[ASN][1000 genomes]
rs72702557	0.81[ASN][1000 genomes]
rs72702558	0.81[ASN][1000 genomes]
rs72702570	0.81[ASN][1000 genomes]
rs72702573	0.81[ASN][1000 genomes]
rs72702580	0.81[ASN][1000 genomes]
rs72702585	0.84[ASN][1000 genomes]
rs72704603	0.84[ASN][1000 genomes]
rs72704652	0.84[EUR][1000 genomes]
rs72704654	0.84[EUR][1000 genomes]
rs72704656	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72704658	0.83[EUR][1000 genomes]
rs72704679	0.84[EUR][1000 genomes]
rs7412396	0.92[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs7418501	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7511673	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs7514004	0.90[EUR][1000 genomes]
rs7521592	0.84[EUR][1000 genomes]
rs7521898	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs7524620	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap]
rs7526489	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7529194	0.90[ASW][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs7529998	0.81[ASN][1000 genomes]
rs7532045	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7533678	0.84[ASN][1000 genomes]
rs7538493	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs7540874	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7544631	0.80[ASN][1000 genomes]
rs7549795	0.80[ASN][1000 genomes]
rs7556661	0.88[CEU][hapmap]
rs8444	0.88[CEU][hapmap];0.80[GIH][hapmap];0.82[LWK][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap]
rs868751	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap]
rs897815	0.88[CEU][hapmap];0.86[GIH][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs951281	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9661876	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:39)

SNP	Gene	Cis/trans	Tissue	Source
rs16827671	CTSS	Cis_1M	lymphoblastoid	RTeQTL
rs16827671	RP11-316M1.12	cis	Thyroid	GTEx
rs16827671	CTSS	cis	lymphoblastoid	seeQTL
rs16827671	RP11-316M1.12	cis	Artery Aorta	GTEx
rs16827671	ARNT	cis	parietal	SCAN
rs16827671	CTSS	cis	parietal	SCAN
rs16827671	HORMAD1	cis	Esophagus Mucosa	GTEx
rs16827671	HORMAD1	cis	Nerve Tibial	GTEx
rs16827671	HORMAD1	cis	Skin Sun Exposed Lower leg	GTEx
rs16827671	RP11-316M1.12	cis	Heart Left Ventricle	GTEx
rs16827671	PSMD4	cis	parietal	SCAN
rs16827671	RP11-316M1.12	cis	lung	GTEx
rs16827671	ARNT	cis	cerebellum	SCAN
rs16827671	CTSK	cis	cerebellum	SCAN
rs16827671	HFE2	cis	parietal	SCAN
rs16827671	RP11-316M1.12	cis	Skin Sun Exposed Lower leg	GTEx
rs16827671	ARNT	Cis_1M	lymphoblastoid	RTeQTL
rs16827671	RP11-316M1.12	cis	Esophagus Mucosa	GTEx
rs16827671	CTSK	cis	parietal	SCAN
rs16827671	HORMAD1	cis	parietal	SCAN
rs16827671	RP11-316M1.12	cis	Adipose Subcutaneous	GTEx
rs16827671	RP11-316M1.12	cis	Muscle Skeletal	GTEx
rs16827671	CTSS	cis	Artery Tibial	GTEx
rs16827671	CTSK	Cis_1M	lymphoblastoid	RTeQTL
rs16827671	RP11-316M1.12	cis	Whole Blood	GTEx
rs16827671	GOLPH3L	cis	cerebellum	SCAN
rs16827671	RP11-316M1.12	cis	Artery Tibial	GTEx
rs16827671	CTSS	cis	Thyroid	GTEx
rs16827671	HORMAD1	cis	cerebellum	SCAN
rs16827671	RNU6-1042P	cis	Esophagus Mucosa	GTEx
rs16827671	RP11-316M1.12	cis	Nerve Tibial	GTEx
rs16827671	CTSK	cis	lymphoblastoid	seeQTL
rs16827671	HORMAD1	cis	Adipose Subcutaneous	GTEx
rs16827671	GOLPH3L	cis	Nerve Tibial	GTEx
rs16827671	GOLPH3L	cis	Skin Sun Exposed Lower leg	GTEx
rs16827671	RP11-316M1.12	cis	Esophagus Muscularis	GTEx
rs16827671	CTSS	cis	multi-tissue	Pritchard
rs16827671	RORC	cis	parietal	SCAN
rs16827671	CTSS	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150737200-150761800	Weak transcription	Spleen	Spleen
2	chr1:150737400-150738800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr1:150737400-150740000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:150737600-150738800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr1:150737800-150738800	Active TSS	Primary T cells from cord blood	blood
6	chr1:150737800-150738800	Active TSS	Primary hematopoietic stem cells	blood
7	chr1:150737800-150738800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:150738000-150738800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:150738200-150738800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:150738200-150738800	Enhancers	HUVEC	blood vessel
11	chr1:150738400-150738800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr1:150738400-150738800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr1:150738400-150738800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:150738400-150738800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:150738400-150738800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:150738400-150738800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:150738400-150738800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:150738400-150738800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:150738400-150738800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:150738400-150738800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:150738400-150738800	Enhancers	Fetal Thymus	thymus
22	chr1:150738400-150738800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr1:150738400-150738800	Enhancers	Stomach Mucosa	stomach
24	chr1:150738400-150738800	Enhancers	Dnd41	blood
25	chr1:150738400-150739000	Enhancers	GM12878-XiMat	blood
26	chr1:150738400-150739200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:150738600-150738800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:150738600-150738800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr1:150738600-150738800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:150738600-150738800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:150738600-150738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:150738600-150738800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:150738600-150738800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:150738600-150739000	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:150738600-150739200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:150738600-150739400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:150738600-150740000	Weak transcription	HepG2	liver
38	chr1:150738600-150743200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:150738600-150743200	Weak transcription	Thymus	Thymus

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Variant report

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