Variant report

Variant	rs1030262
Chromosome Location	chr16:75491327-75491328
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75486898..75488534-chr16:75489987..75492131,2	K562	blood:
2	chr16:75282791..75285373-chr16:75490756..75493433,2	MCF-7	breast:
3	chr16:75490406..75492380-chr16:75498183..75500144,2	K562	blood:
4	chr16:75488273..75491906-chr16:75496881..75500144,3	K562	blood:
5	chr16:75486316..75489420-chr16:75490686..75493113,4	MCF-7	breast:
6	chr16:75489832..75492687-chr16:75493360..75496513,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166822	Chromatin interaction
ENSG00000261476	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 270 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:261)

rs_ID	r²[population]
rs100912	0.85[ASN][1000 genomes]
rs1030261	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431974	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459859	0.82[EUR][1000 genomes]
rs10514396	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10871311	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10871312	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10871313	0.97[ASN][1000 genomes]
rs1109341	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1109342	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149818	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149820	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149822	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11149824	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149825	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149826	0.82[EUR][1000 genomes]
rs11149827	0.82[EUR][1000 genomes]
rs11149828	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11149829	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149830	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11149831	0.82[ASN][1000 genomes]
rs11149832	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11149833	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11640674	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11641249	0.94[ASN][1000 genomes]
rs11641430	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11641587	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11641801	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11642572	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11642921	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11643207	0.98[ASN][1000 genomes]
rs11643410	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11644306	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11644639	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11644741	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11645329	0.81[EUR][1000 genomes]
rs11646677	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11646852	0.80[EUR][1000 genomes]
rs11648176	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11649638	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11858992	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11860231	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11860284	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11861810	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11862095	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11862582	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11862684	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11862719	0.80[EUR][1000 genomes]
rs11864102	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11864587	0.86[EUR][1000 genomes]
rs11865004	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11865296	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12051111	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051136	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12051137	0.93[ASN][1000 genomes]
rs12051326	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12149063	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12443834	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12443904	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12444589	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12445726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12446877	0.95[ASN][1000 genomes]
rs12448829	0.85[ASN][1000 genomes]
rs12448947	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12449170	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12599361	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12917651	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12918797	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12924333	0.92[ASN][1000 genomes]
rs12924782	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12924920	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12927562	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12928036	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12928722	0.84[EUR][1000 genomes]
rs12928898	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12929673	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12929908	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12930452	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12930768	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12932606	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12933281	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12935787	0.81[EUR][1000 genomes]
rs1364077	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1364078	0.82[EUR][1000 genomes]
rs1364079	0.82[EUR][1000 genomes]
rs1424013	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1540	0.80[ASN][1000 genomes]
rs1542864	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1544810	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1549306	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17696696	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17696749	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17696831	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1808434	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1808435	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1808436	0.84[EUR][1000 genomes]
rs1834013	0.98[ASN][1000 genomes]
rs1834014	0.98[ASN][1000 genomes]
rs1895490	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2059256	0.82[EUR][1000 genomes]
rs2113232	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2161684	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242405	0.80[ASN][1000 genomes]
rs2285222	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2285223	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2285224	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2285225	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs247450	0.81[ASN][1000 genomes]
rs247454	0.86[ASN][1000 genomes]
rs2738809	0.86[ASN][1000 genomes]
rs2738814	0.81[ASN][1000 genomes]
rs28558946	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2865528	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2865530	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2865531	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28655617	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2903033	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3115960	0.88[ASN][1000 genomes]
rs34021527	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34222958	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34296964	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34539062	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34624768	0.81[EUR][1000 genomes]
rs34841467	0.88[EUR][1000 genomes]
rs34918083	0.98[ASN][1000 genomes]
rs34996006	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35209155	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35214308	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35261357	0.85[EUR][1000 genomes]
rs35263058	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35415181	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35552529	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35683383	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35737321	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35787595	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3743609	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs37592	0.98[ASN][1000 genomes]
rs37593	0.98[ASN][1000 genomes]
rs37594	0.98[ASN][1000 genomes]
rs37595	0.98[ASN][1000 genomes]
rs37597	0.90[ASN][1000 genomes]
rs37599	0.80[ASN][1000 genomes]
rs37602	0.80[ASN][1000 genomes]
rs37606	0.94[ASN][1000 genomes]
rs3784935	0.81[EUR][1000 genomes]
rs3851737	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3851738	0.80[AMR][1000 genomes]
rs3863442	0.82[EUR][1000 genomes]
rs3863446	0.83[EUR][1000 genomes]
rs3863447	0.81[EUR][1000 genomes]
rs40446	0.98[ASN][1000 genomes]
rs4146809	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4146810	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4638613	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4887820	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4887821	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4887822	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4887823	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4887824	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4887825	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4887828	0.81[ASN][1000 genomes]
rs4887829	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888378	0.81[EUR][1000 genomes]
rs4888383	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4888385	0.82[EUR][1000 genomes]
rs4888386	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4888387	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4888388	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888389	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4888390	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888391	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4888392	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4888400	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4888403	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888404	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888405	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888406	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888407	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888408	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4888409	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888410	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888411	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4888412	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4888413	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4888414	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4888415	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4888416	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888418	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888420	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4888421	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888425	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888426	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888427	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4888430	0.98[ASN][1000 genomes]
rs4888431	0.95[ASN][1000 genomes]
rs4888432	0.85[ASN][1000 genomes]
rs4993969	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4993970	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56004344	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56116092	0.92[ASN][1000 genomes]
rs56343285	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59155720	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59347518	0.94[ASN][1000 genomes]
rs59465235	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60730309	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62059845	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62059846	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62060550	0.98[ASN][1000 genomes]
rs62060551	0.98[ASN][1000 genomes]
rs62062564	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62062565	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62062567	0.86[EUR][1000 genomes]
rs62062568	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62062572	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6564252	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6564258	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6564259	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6564261	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67409275	0.91[EUR][1000 genomes]
rs71394207	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7184525	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7185640	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7188231	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7188604	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7191890	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7193828	0.87[ASN][1000 genomes]
rs7194035	0.87[ASN][1000 genomes]
rs7195161	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7198873	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7199062	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7199132	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7200053	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7200616	0.81[EUR][1000 genomes]
rs7202567	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7202596	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7203157	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7204984	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7206541	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7206665	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72787160	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7499872	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs766521	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8046000	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8048527	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8050059	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8050769	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8051407	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8054769	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8055490	0.92[ASN][1000 genomes]
rs8055974	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8056080	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8056141	0.81[ASN][1000 genomes]
rs8056236	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8057084	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8057203	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8057849	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8060955	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8063068	0.94[ASN][1000 genomes]
rs977985	0.97[ASN][1000 genomes]
rs977987	0.97[ASN][1000 genomes]
rs9933255	0.95[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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1030262	RP11-252K23.2	cis	Artery Tibial	GTEx
rs1030262	RP11-252K23.2	cis	Esophagus Mucosa	GTEx
rs1030262	RP11-252K23.2	cis	Thyroid	GTEx
rs1030262	RP11-252K23.2	cis	lung	GTEx
rs1030262	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75468800-75493800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:75468800-75497000	Weak transcription	NHLF	lung
3	chr16:75469400-75497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:75469400-75497400	Weak transcription	Psoas Muscle	Psoas
5	chr16:75473600-75496000	Weak transcription	HMEC	breast
6	chr16:75477400-75494400	Weak transcription	NH-A	brain
7	chr16:75477800-75497000	Weak transcription	NHDF-Ad	bronchial
8	chr16:75479400-75493800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:75481800-75497600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:75482400-75494200	Weak transcription	GM12878-XiMat	blood
11	chr16:75483200-75495800	Weak transcription	Fetal Brain Male	brain
12	chr16:75483600-75494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:75483800-75496000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:75484000-75496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:75484000-75496800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:75485000-75494400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:75485200-75493200	Weak transcription	Esophagus	oesophagus
18	chr16:75485400-75493200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:75485400-75496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:75485600-75493800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:75485600-75494200	Weak transcription	Brain Germinal Matrix	brain
22	chr16:75485600-75495800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:75485600-75496400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:75485600-75497200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:75485800-75491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:75485800-75492000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:75485800-75492000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:75485800-75493000	Weak transcription	NHEK	skin
29	chr16:75485800-75493200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:75485800-75493200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:75485800-75493600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:75485800-75493800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:75485800-75493800	Weak transcription	A549	lung
34	chr16:75485800-75493800	Weak transcription	HSMM	muscle
35	chr16:75485800-75493800	Weak transcription	HSMMtube	muscle
36	chr16:75485800-75494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:75485800-75494200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:75485800-75494400	Weak transcription	Primary T cells from cord blood	blood
39	chr16:75485800-75494400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:75485800-75494600	Weak transcription	Brain Substantia Nigra	brain
41	chr16:75485800-75494600	Weak transcription	Hela-S3	cervix
42	chr16:75485800-75495200	Weak transcription	Dnd41	blood
43	chr16:75485800-75496000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:75485800-75496400	Weak transcription	Primary B cells from cord blood	blood
45	chr16:75485800-75496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr16:75485800-75496800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:75485800-75496800	Weak transcription	Fetal Kidney	kidney
48	chr16:75485800-75496800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:75485800-75497000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:75485800-75497000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links