Variant report

Variant	rs2127823
Chromosome Location	chr4:120485670-120485671
allele	G/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	chr4:120485431-120485784	HL-60	blood:	n/a	chr4:120485729-120485738
2	SPI1	chr4:120485369-120485794	HL-60	blood:	n/a	chr4:120485729-120485738

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120485362..120487909-chr4:120507957..120510627,2	K562	blood:

Variant related genes	Relation type
PDE5A	TF binding region

Extended variants
information (count: 219 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:210)

rs_ID	r²[population]
rs10006525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10006706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10006793	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10008459	0.84[ASN][1000 genomes]
rs10008791	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10009450	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10009626	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10013305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10017335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs10017389	0.84[ASN][1000 genomes]
rs10018280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10018726	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10019674	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10020027	0.83[ASN][1000 genomes]
rs10026516	0.83[ASN][1000 genomes]
rs10026736	0.83[ASN][1000 genomes]
rs10026952	0.82[ASN][1000 genomes]
rs10030660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10031483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10031665	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10032151	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10032158	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10034450	0.87[CEU][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10034623	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10050092	0.89[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1010739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1010740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10518329	0.89[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs10518336	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs11098524	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11098525	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11098526	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11098527	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11098530	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11098531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098532	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155576	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[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];0.99[ASN][1000 genomes]
rs11723090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11731756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11736416	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11737395	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11933966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11934314	0.85[ASN][1000 genomes]
rs11934940	0.84[ASN][1000 genomes]
rs11935596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11940028	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11943877	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11947234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498539	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499324	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12502389	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12502423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12502909	0.85[ASN][1000 genomes]
rs12504773	0.83[EUR][1000 genomes]
rs12505735	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12505953	0.84[ASN][1000 genomes]
rs12507964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12508504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12510138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13107475	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13122709	0.81[EUR][1000 genomes]
rs13128602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13134665	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13136462	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13140391	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13140409	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13145352	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13149407	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1383532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1383533	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1480931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1480936	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480939	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552092	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17005535	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17006190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17046116	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17046118	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17050695	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051356	0.93[CEU][hapmap]
rs2086450	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2127821	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2170276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291185	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306455	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2306456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306457	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2389809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2389885	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28374462	0.83[ASN][1000 genomes]
rs28394116	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28408407	0.83[ASN][1000 genomes]
rs28441656	0.83[ASN][1000 genomes]
rs28444327	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28461559	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28479042	0.85[ASN][1000 genomes]
rs28499576	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28535956	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28559989	0.84[ASN][1000 genomes]
rs28571712	0.85[ASN][1000 genomes]
rs28578366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28587142	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28632018	0.84[ASN][1000 genomes]
rs28685688	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28718422	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28735358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28753180	0.83[ASN][1000 genomes]
rs28845498	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2892848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.85[ASN][1000 genomes]
rs34004415	0.84[ASN][1000 genomes]
rs34308924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34858317	0.85[ASN][1000 genomes]
rs34868248	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35063680	0.85[ASN][1000 genomes]
rs35111518	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36040693	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3733519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733520	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733523	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3733524	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3733525	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756156	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3775841	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775843	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775847	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775848	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775849	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775854	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806808	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[TSI][hapmap]
rs3822190	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822191	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822192	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577559	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4596225	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4998488	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55825515	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56270433	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58452170	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59732491	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6534140	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822679	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6824111	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs6829903	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6832740	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs6833334	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6834796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6835635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6837828	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6838814	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6842762	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6847818	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6849171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6849561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6853998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6855918	0.83[ASN][1000 genomes]
rs6858592	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858777	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71614443	0.84[ASN][1000 genomes]
rs71614444	0.85[ASN][1000 genomes]
rs71614448	0.85[ASN][1000 genomes]
rs71614449	0.85[ASN][1000 genomes]
rs7436506	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7654529	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7654546	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7654587	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7656252	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7659336	0.81[ASN][1000 genomes]
rs7659501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7659551	0.81[GIH][hapmap]
rs7664986	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665125	0.89[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7669520	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7678400	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7680063	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7680914	0.82[EUR][1000 genomes]
rs7681214	0.81[ASN][1000 genomes]
rs7681544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7681978	0.84[ASN][1000 genomes]
rs7687843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7688802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7692994	0.89[CEU][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7693919	0.83[ASN][1000 genomes]
rs7695292	0.83[EUR][1000 genomes]
rs7695620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7699064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9884402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993199	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9994730	0.85[ASN][1000 genomes]
rs9994810	0.85[ASN][1000 genomes]
rs9995026	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995136	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs9997631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2127823	RP11-33B1.1	cis	lung	GTEx
rs2127823	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs2127823	RP11-384K6.6	cis	Whole Blood	GTEx
rs2127823	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs2127823	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs2127823	LOC284701///FLJ14186///LOC441124///LOC641693///LOC642788///LOC653056	cis	uninvolved skin	skin_eQTL
rs2127823	RP11-33B1.1	cis	Whole Blood	GTEx
rs2127823	C4orf3	cis	cerebellum	SCAN
rs2127823	RP11-33B1.4	cis	Whole Blood	GTEx
rs2127823	QRFPR	cis	parietal	SCAN
rs2127823	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs2127823	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs2127823	LOC284701///FLJ14186///LOC441124///LOC641693///LOC642788///LOC653056	cis	normal skin	skin_eQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
2	chr4:120435000-120487600	Weak transcription	Colonic Mucosa	Colon
3	chr4:120456200-120488800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:120459400-120491600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:120465000-120489600	Weak transcription	Lung	lung
6	chr4:120472800-120491200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:120472800-120491400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:120473800-120487800	Weak transcription	Placenta	Placenta
9	chr4:120477600-120486000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:120478600-120501000	Weak transcription	Fetal Stomach	stomach
11	chr4:120481200-120486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:120481800-120489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:120482400-120488200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:120483400-120486200	Strong transcription	Fetal Kidney	kidney
15	chr4:120483400-120486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:120483400-120487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:120483800-120487800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:120484400-120486400	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr4:120484400-120486600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:120484600-120486200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:120484600-120486400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:120484600-120486600	ZNF genes & repeats	Fetal Lung	lung
23	chr4:120484600-120486800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr4:120484600-120487000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr4:120484800-120485800	ZNF genes & repeats	Small Intestine	intestine
26	chr4:120484800-120486000	ZNF genes & repeats	Liver	Liver
27	chr4:120484800-120486000	ZNF genes & repeats	NHDF-Ad	bronchial
28	chr4:120484800-120486200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:120484800-120486200	ZNF genes & repeats	NH-A	brain
30	chr4:120484800-120486200	ZNF genes & repeats	NHLF	lung
31	chr4:120484800-120486400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:120484800-120486400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:120484800-120486400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:120484800-120486400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr4:120484800-120486400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:120484800-120486400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr4:120484800-120486600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr4:120484800-120486600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr4:120484800-120486800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr4:120485000-120486200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr4:120485000-120493000	Weak transcription	Left Ventricle	heart
42	chr4:120485400-120485800	ZNF genes & repeats	Fetal Brain Male	brain
43	chr4:120485400-120486200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:120485400-120486200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:120485400-120486200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr4:120485400-120486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
47	chr4:120485400-120486200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr4:120485400-120486200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
49	chr4:120485400-120486600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr4:120485400-120486800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links