Variant report

Variant	rs2696522
Chromosome Location	chr17:44356890-44356891
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1016 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:308)

rs_ID	r²[population]
rs10221243	1.00[ASN][1000 genomes]
rs10514901	1.00[ASN][1000 genomes]
rs10514903	1.00[ASN][1000 genomes]
rs10514904	1.00[ASN][1000 genomes]
rs11079733	1.00[ASN][1000 genomes]
rs1122380	1.00[ASN][1000 genomes]
rs1122381	1.00[ASN][1000 genomes]
rs12150087	1.00[ASN][1000 genomes]
rs12150319	1.00[ASN][1000 genomes]
rs1358439	1.00[ASN][1000 genomes]
rs1468240	1.00[ASN][1000 genomes]
rs16940904	1.00[ASN][1000 genomes]
rs1706725	1.00[ASN][1000 genomes]
rs17576631	1.00[ASN][1000 genomes]
rs17576695	1.00[ASN][1000 genomes]
rs17576709	1.00[ASN][1000 genomes]
rs17576779	1.00[ASN][1000 genomes]
rs17576842	1.00[ASN][1000 genomes]
rs17576870	1.00[ASN][1000 genomes]
rs17576954	1.00[ASN][1000 genomes]
rs17576989	1.00[ASN][1000 genomes]
rs17577024	1.00[ASN][1000 genomes]
rs17577052	1.00[ASN][1000 genomes]
rs17577159	1.00[ASN][1000 genomes]
rs17577313	1.00[ASN][1000 genomes]
rs17577369	1.00[ASN][1000 genomes]
rs17577447	1.00[ASN][1000 genomes]
rs17577496	1.00[ASN][1000 genomes]
rs17577650	1.00[ASN][1000 genomes]
rs17577877	1.00[ASN][1000 genomes]
rs17577954	1.00[ASN][1000 genomes]
rs17577975	1.00[ASN][1000 genomes]
rs17660337	1.00[ASN][1000 genomes]
rs17660398	1.00[ASN][1000 genomes]
rs17660464	1.00[ASN][1000 genomes]
rs17660488	1.00[ASN][1000 genomes]
rs17660595	1.00[ASN][1000 genomes]
rs17660847	1.00[ASN][1000 genomes]
rs17660865	1.00[ASN][1000 genomes]
rs17660907	1.00[ASN][1000 genomes]
rs17660936	1.00[ASN][1000 genomes]
rs17661015	1.00[ASN][1000 genomes]
rs17661027	1.00[ASN][1000 genomes]
rs17661045	1.00[ASN][1000 genomes]
rs17661141	1.00[ASN][1000 genomes]
rs17661348	1.00[ASN][1000 genomes]
rs17661385	1.00[ASN][1000 genomes]
rs17661428	1.00[ASN][1000 genomes]
rs17664048	1.00[ASN][1000 genomes]
rs17665188	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819040	1.00[ASN][1000 genomes]
rs1918786	1.00[ASN][1000 genomes]
rs1918787	1.00[ASN][1000 genomes]
rs1918794	1.00[ASN][1000 genomes]
rs1966345	1.00[ASN][1000 genomes]
rs2097760	1.00[ASN][1000 genomes]
rs2141298	1.00[ASN][1000 genomes]
rs2243967	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2261016	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262140	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262144	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2264542	1.00[ASN][1000 genomes]
rs2429438	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429440	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2429442	1.00[ASN][1000 genomes]
rs2458216	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2458217	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2458218	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2463515	1.00[ASN][1000 genomes]
rs2469914	1.00[ASN][1000 genomes]
rs2469940	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469941	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469943	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469944	1.00[ASN][1000 genomes]
rs2532229	1.00[ASN][1000 genomes]
rs2532233	1.00[ASN][1000 genomes]
rs2532239	1.00[ASN][1000 genomes]
rs2532244	1.00[ASN][1000 genomes]
rs2532276	1.00[ASN][1000 genomes]
rs2532277	1.00[ASN][1000 genomes]
rs2532307	1.00[ASN][1000 genomes]
rs2532329	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532330	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532331	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532336	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532339	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532340	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532343	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532349	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532363	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532411	1.00[ASN][1000 genomes]
rs2532412	1.00[ASN][1000 genomes]
rs2532414	1.00[ASN][1000 genomes]
rs2532416	1.00[ASN][1000 genomes]
rs2532417	1.00[ASN][1000 genomes]
rs2532418	1.00[ASN][1000 genomes]
rs2532419	1.00[ASN][1000 genomes]
rs2532423	1.00[ASN][1000 genomes]
rs2668611	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668614	1.00[ASN][1000 genomes]
rs2668622	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668626	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668627	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668645	1.00[ASN][1000 genomes]
rs2668653	1.00[ASN][1000 genomes]
rs2668658	1.00[ASN][1000 genomes]
rs2668662	1.00[ASN][1000 genomes]
rs2668665	1.00[ASN][1000 genomes]
rs2668668	1.00[ASN][1000 genomes]
rs2668670	1.00[ASN][1000 genomes]
rs2668687	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668691	1.00[ASN][1000 genomes]
rs2668692	1.00[ASN][1000 genomes]
rs2668694	1.00[ASN][1000 genomes]
rs2668695	1.00[ASN][1000 genomes]
rs2668713	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668719	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668723	1.00[ASN][1000 genomes]
rs2696429	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696430	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696445	1.00[ASN][1000 genomes]
rs2696515	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696516	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696517	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696518	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696524	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696525	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696527	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696528	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696531	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696532	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696533	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696534	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696535	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696542	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2696547	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696551	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696555	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696559	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696560	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696561	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696565	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696566	1.00[ASN][1000 genomes]
rs2696568	1.00[ASN][1000 genomes]
rs2696569	1.00[ASN][1000 genomes]
rs2696608	1.00[ASN][1000 genomes]
rs2696609	1.00[ASN][1000 genomes]
rs2696610	1.00[ASN][1000 genomes]
rs2696617	1.00[ASN][1000 genomes]
rs2696633	1.00[ASN][1000 genomes]
rs2696635	1.00[ASN][1000 genomes]
rs2696673	1.00[ASN][1000 genomes]
rs2732601	1.00[ASN][1000 genomes]
rs2732613	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732619	1.00[ASN][1000 genomes]
rs2732625	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732628	1.00[ASN][1000 genomes]
rs2732629	1.00[ASN][1000 genomes]
rs2732631	1.00[ASN][1000 genomes]
rs2732649	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732650	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2732651	0.80[AMR][1000 genomes]
rs2732652	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732654	1.00[ASN][1000 genomes]
rs2732655	1.00[ASN][1000 genomes]
rs2732682	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732683	1.00[ASN][1000 genomes]
rs2732685	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732703	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2732704	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732705	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732706	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732707	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732708	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732710	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732711	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732712	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732713	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732715	1.00[ASN][1000 genomes]
rs2942160	1.00[ASN][1000 genomes]
rs2942175	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2942176	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2942177	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2942178	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950691	1.00[ASN][1000 genomes]
rs2950692	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950693	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950694	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950706	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2957296	1.00[ASN][1000 genomes]
rs2957297	1.00[ASN][1000 genomes]
rs3087534	1.00[ASN][1000 genomes]
rs3108506	1.00[ASN][1000 genomes]
rs3110331	1.00[ASN][1000 genomes]
rs3110333	1.00[ASN][1000 genomes]
rs34046424	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35524223	1.00[ASN][1000 genomes]
rs36036607	1.00[ASN][1000 genomes]
rs36050210	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36123991	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4383188	1.00[ASN][1000 genomes]
rs4471723	1.00[ASN][1000 genomes]
rs4548919	1.00[ASN][1000 genomes]
rs4581739	1.00[ASN][1000 genomes]
rs4630591	1.00[ASN][1000 genomes]
rs55648323	1.00[ASN][1000 genomes]
rs55653937	1.00[ASN][1000 genomes]
rs55669501	1.00[ASN][1000 genomes]
rs55672516	1.00[ASN][1000 genomes]
rs55686102	1.00[ASN][1000 genomes]
rs55744103	1.00[ASN][1000 genomes]
rs55780786	1.00[ASN][1000 genomes]
rs55790833	1.00[ASN][1000 genomes]
rs55794067	1.00[ASN][1000 genomes]
rs55802590	1.00[ASN][1000 genomes]
rs55825513	1.00[ASN][1000 genomes]
rs55885063	1.00[ASN][1000 genomes]
rs55900347	1.00[ASN][1000 genomes]
rs55909047	1.00[ASN][1000 genomes]
rs56078347	1.00[ASN][1000 genomes]
rs56119705	1.00[ASN][1000 genomes]
rs56240678	1.00[ASN][1000 genomes]
rs56257094	1.00[ASN][1000 genomes]
rs56273589	1.00[ASN][1000 genomes]
rs62060946	1.00[ASN][1000 genomes]
rs62060947	1.00[ASN][1000 genomes]
rs62060952	1.00[ASN][1000 genomes]
rs62061770	1.00[ASN][1000 genomes]
rs62061771	1.00[ASN][1000 genomes]
rs62061772	1.00[ASN][1000 genomes]
rs62061788	1.00[ASN][1000 genomes]
rs62061789	1.00[ASN][1000 genomes]
rs62061790	1.00[ASN][1000 genomes]
rs62061791	1.00[ASN][1000 genomes]
rs62061792	1.00[ASN][1000 genomes]
rs62061793	1.00[ASN][1000 genomes]
rs62061795	1.00[ASN][1000 genomes]
rs62061796	1.00[ASN][1000 genomes]
rs62061798	1.00[ASN][1000 genomes]
rs62061800	1.00[ASN][1000 genomes]
rs62061801	1.00[ASN][1000 genomes]
rs62061802	1.00[ASN][1000 genomes]
rs62061803	1.00[ASN][1000 genomes]
rs62061807	1.00[ASN][1000 genomes]
rs62061808	1.00[ASN][1000 genomes]
rs62061809	1.00[ASN][1000 genomes]
rs62061810	1.00[ASN][1000 genomes]
rs62061811	1.00[ASN][1000 genomes]
rs62061812	1.00[ASN][1000 genomes]
rs62061814	1.00[ASN][1000 genomes]
rs62061815	1.00[ASN][1000 genomes]
rs62061816	1.00[ASN][1000 genomes]
rs62061817	1.00[ASN][1000 genomes]
rs62061818	1.00[ASN][1000 genomes]
rs62061820	1.00[ASN][1000 genomes]
rs62061821	1.00[ASN][1000 genomes]
rs62061822	1.00[ASN][1000 genomes]
rs62061823	1.00[ASN][1000 genomes]
rs62061824	1.00[ASN][1000 genomes]
rs62061845	1.00[ASN][1000 genomes]
rs62061847	1.00[ASN][1000 genomes]
rs62061848	1.00[ASN][1000 genomes]
rs62061849	1.00[ASN][1000 genomes]
rs62061850	1.00[ASN][1000 genomes]
rs62061851	1.00[ASN][1000 genomes]
rs62061852	1.00[ASN][1000 genomes]
rs62061853	1.00[ASN][1000 genomes]
rs62061854	1.00[ASN][1000 genomes]
rs62061855	1.00[ASN][1000 genomes]
rs62061856	1.00[ASN][1000 genomes]
rs62061858	1.00[ASN][1000 genomes]
rs62061859	1.00[ASN][1000 genomes]
rs62063163	1.00[ASN][1000 genomes]
rs62063164	1.00[ASN][1000 genomes]
rs62063165	1.00[ASN][1000 genomes]
rs62063166	1.00[ASN][1000 genomes]
rs62063171	1.00[ASN][1000 genomes]
rs62063172	1.00[ASN][1000 genomes]
rs62063174	1.00[ASN][1000 genomes]
rs62063200	1.00[ASN][1000 genomes]
rs62063201	1.00[ASN][1000 genomes]
rs62063202	1.00[ASN][1000 genomes]
rs62063203	1.00[ASN][1000 genomes]
rs62063207	1.00[ASN][1000 genomes]
rs62063208	1.00[ASN][1000 genomes]
rs62063212	1.00[ASN][1000 genomes]
rs62063234	1.00[ASN][1000 genomes]
rs62070911	1.00[ASN][1000 genomes]
rs62070948	1.00[ASN][1000 genomes]
rs62071576	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62071596	1.00[ASN][1000 genomes]
rs62071621	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62071631	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62071640	1.00[ASN][1000 genomes]
rs62073099	1.00[ASN][1000 genomes]
rs62073152	1.00[ASN][1000 genomes]
rs62073155	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62073156	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62074562	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503457	1.00[ASN][1000 genomes]
rs7207582	1.00[ASN][1000 genomes]
rs727425	1.00[ASN][1000 genomes]
rs73984689	1.00[ASN][1000 genomes]
rs7502848	1.00[ASN][1000 genomes]
rs8070942	1.00[ASN][1000 genomes]
rs9303525	1.00[ASN][1000 genomes]
rs9915547	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529780	chr17:43706686-44485971	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529278	chr17:43706886-44694283	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv948604	chr17:43741452-44364056	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv949112	chr17:43763241-44364056	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv431716	chr17:43893020-44868187	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv2751685	chr17:44004972-44789317	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv2751686	chr17:44039564-44364056	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv431717	chr17:44075901-44809001	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv471698	chr17:44079479-44378253	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv431718	chr17:44094463-44873614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	esv2751687	chr17:44094471-44364056	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv516807	chr17:44109474-44793283	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv431719	chr17:44111853-44364056	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	esv2751688	chr17:44115107-44364056	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv431720	chr17:44115107-44364056	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer 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
16	nsv1063349	chr17:44116860-44435442	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv431723	chr17:44118999-44364056	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS 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	33 gene(s)	inside rSNPs	diseases
18	nsv543359	chr17:44132076-44792529	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv431726	chr17:44135864-44364056	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
20	esv1792966	chr17:44136000-44422977	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
21	nsv529718	chr17:44138513-44694283	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
22	nsv916230	chr17:44138515-44694311	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
23	esv2751689	chr17:44139662-44364056	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
24	esv2751690	chr17:44139662-44364056	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
25	esv2751691	chr17:44139662-44795190	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
26	esv2751692	chr17:44139662-44811116	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
27	esv2751693	chr17:44139682-44364056	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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
28	esv2751694	chr17:44139682-44789285	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
29	esv2751695	chr17:44139682-44801340	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
30	nsv908313	chr17:44140748-44368215	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
31	nsv908314	chr17:44140748-44375017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
32	nsv908315	chr17:44140748-44788310	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
33	nsv543362	chr17:44141175-44792529	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
34	esv2751696	chr17:44144214-44364056	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
35	nsv431731	chr17:44144214-44364056	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
36	esv2751697	chr17:44144214-44796777	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
37	nsv431730	chr17:44144214-44826056	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
38	nsv431729	chr17:44144214-44869063	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
39	nsv431734	chr17:44144387-44364023	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
40	nsv431737	chr17:44144387-44364056	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
41	nsv1059239	chr17:44145589-44364158	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
42	nsv1065032	chr17:44148408-44364158	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
43	esv1795345	chr17:44149955-44365116	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
44	nsv1065797	chr17:44150775-44364158	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
45	nsv543364	chr17:44151408-44792529	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
46	nsv1067056	chr17:44151774-44364158	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
47	nsv1060875	chr17:44153522-44364158	Genic enhancers Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
48	nsv1061484	chr17:44156069-44361997	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
49	nsv1059408	chr17:44156069-44364158	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
50	nsv1057045	chr17:44157475-44364158	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2696522	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs2696522	LRRC37A4	Cis_1M	lymphoblastoid	RTeQTL
rs2696522	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs2696522	ARHGAP27	Cis_1M	lymphoblastoid	RTeQTL
rs2696522	BPTF	Cis_chr	lymphoblastoid	RTeQTL
rs2696522	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs2696522	LRRC37A4	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44351800-44364200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:44352200-44357000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:44353800-44364200	Weak transcription	Fetal Intestine Small	intestine
4	chr17:44355000-44366600	Weak transcription	Fetal Stomach	stomach
5	chr17:44356200-44359000	Enhancers	HepG2	liver
6	chr17:44356600-44357600	Enhancers	Stomach Mucosa	stomach
7	chr17:44356800-44357000	Enhancers	A549	lung
8	chr17:44356800-44357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:44356800-44358200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:44356800-44358200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links