Variant report

Variant	rs2910787
Chromosome Location	chr5:96274223-96274224
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	FAM48A	chr5:96274186-96274307	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:96274123-96274669	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:96274206-96274603	GM12891	blood:	n/a	n/a
4	IRF1	chr5:96274155-96274355	K562	blood:	n/a	chr5:96274208-96274217
5	POLR2A	chr5:96274123-96274648	GM12891	blood:	n/a	n/a
6	CTCF	chr5:96274074-96274232	GM12878	blood:	n/a	chr5:96274177-96274195 chr5:96274172-96274193

No.	Distal block	Cell Line	Cell type
1	chr5:96272582..96274239-chr5:96286288..96288115,2	K562	blood:
2	chr5:96270050..96274625-chr5:96293478..96297387,4	MCF-7	breast:
3	chr5:96273987..96276644-chr5:96284766..96287407,2	MCF-7	breast:
4	chr5:96272346..96274929-chr5:96377055..96379060,2	K562	blood:

Variant related genes	Relation type
ENSG00000247121	TF binding region
ENSG00000227836	TF binding region
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 196 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10038651	0.94[ASN][1000 genomes]
rs10044354	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.94[ASN][1000 genomes]
rs10051637	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061936	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069361	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071975	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10076136	0.92[EUR][1000 genomes]
rs10077945	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019503	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs10434709	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs1046395	0.80[EUR][1000 genomes]
rs1046396	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476696	0.94[ASN][1000 genomes]
rs1056893	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11135484	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs11135485	0.93[EUR][1000 genomes]
rs1216565	0.96[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1216568	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1216569	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1216570	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1230381	0.93[EUR][1000 genomes]
rs1230382	0.93[EUR][1000 genomes]
rs12516666	0.81[CEU][hapmap]
rs12716486	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs13163165	0.87[EUR][1000 genomes]
rs13167902	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs13170029	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358339	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1363907	0.83[CHD][hapmap]
rs1363974	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1363975	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1363977	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1423357	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1423566	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423568	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1477364	0.80[EUR][1000 genomes]
rs1559267	0.92[EUR][1000 genomes]
rs1559355	0.81[CEU][hapmap]
rs17087165	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs171647	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs18059	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs1820149	0.92[EUR][1000 genomes]
rs187265	0.96[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs193993	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs193994	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974871	0.81[TSI][hapmap]
rs1981846	0.92[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2042383	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2042385	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2112974	0.91[EUR][1000 genomes]
rs2113050	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2113189	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2113190	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2113191	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2161548	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2161657	0.96[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2161658	0.96[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2247650	0.85[CEU][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs2248374	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2255546	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2255633	0.96[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2255634	0.96[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2255637	0.96[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2278018	0.81[CEU][hapmap]
rs2278019	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2287988	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2351010	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2432141	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432142	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs248215	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs251339	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs251342	0.91[EUR][1000 genomes]
rs251344	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2548224	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2548516	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548520	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2548521	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2548522	0.93[EUR][1000 genomes]
rs2548523	0.96[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548524	0.96[CEU][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548526	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548527	0.96[CEU][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2548528	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548529	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2548533	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548534	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548535	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2548536	0.95[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548537	0.96[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548538	0.96[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2548539	0.96[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2548540	0.96[CEU][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes]
rs2549781	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2549782	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs2549784	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549785	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549786	0.80[EUR][1000 genomes]
rs2549787	0.91[EUR][1000 genomes]
rs2549788	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549789	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549790	0.96[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549791	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2549792	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549794	0.83[CHD][hapmap]
rs2549795	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549796	0.96[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2549797	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549798	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2549799	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2549800	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2549801	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2617434	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2617435	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2617442	0.85[JPT][hapmap]
rs27289	0.85[ASN][1000 genomes]
rs27290	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs27292	0.87[EUR][1000 genomes]
rs27293	0.84[ASN][1000 genomes]
rs27294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27295	0.85[ASN][1000 genomes]
rs27296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27298	0.85[ASN][1000 genomes]
rs27299	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27300	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs27302	0.80[ASN][1000 genomes]
rs27305	0.88[EUR][1000 genomes]
rs27306	0.83[CHD][hapmap]
rs27307	0.83[CHD][hapmap]
rs27397	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs27436	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs27613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2762	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27621	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27659	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs27711	0.83[CHD][hapmap]
rs27712	0.83[CHD][hapmap]
rs27747	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs27993	0.85[CHD][hapmap]
rs27998	0.84[ASN][1000 genomes]
rs2910686	0.81[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs2910688	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2910788	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910789	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911134	0.90[JPT][hapmap]
rs3096167	0.86[EUR][1000 genomes]
rs31398	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs33934033	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3734015	0.81[CEU][hapmap]
rs3797796	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38030	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38033	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38034	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38035	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes]
rs38036	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs38037	0.89[EUR][1000 genomes]
rs38038	0.88[ASN][1000 genomes]
rs38040	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38041	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs38042	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs38043	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs38044	0.83[ASN][1000 genomes]
rs3849750	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs3909451	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs39602	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs42983	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4360063	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869314	0.81[CEU][hapmap]
rs6556943	0.89[EUR][1000 genomes]
rs6859160	0.90[EUR][1000 genomes]
rs6870825	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871162	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873441	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6874656	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6879678	0.90[EUR][1000 genomes]
rs6887500	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7700332	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7703341	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7705093	0.84[ASN][1000 genomes]
rs7713127	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7716222	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7719705	0.80[EUR][1000 genomes]
rs7722694	0.91[EUR][1000 genomes]
rs7726445	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731592	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733312	0.80[EUR][1000 genomes]
rs7736466	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9127	0.88[CEU][hapmap]
rs9314181	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs2910787	ERAP2	cis	Nerve Tibial	GTEx
rs2910787	ERAP2	cis	lymphoblastoid	seeQTL
rs2910787	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs2910787	ERAP2	cis	Adipose Subcutaneous	GTEx
rs2910787	ERAP2	cis	Whole Blood	GTEx
rs2910787	ERAP2	cis	parietal	SCAN
rs2910787	ERAP2	cis	Esophagus Muscularis	GTEx
rs2910787	LRAP	cis	multi-tissue	Pritchard
rs2910787	ERAP2	cis	Muscle Skeletal	GTEx
rs2910787	ERAP2	cis	Esophagus Mucosa	GTEx
rs2910787	ERAP2	cis	Artery Aorta	GTEx
rs2910787	ERAP2	cis	lymphoblastoid	GTEx
rs2910787	LNPEP	cis	normal skin	skin_eQTL
rs2910787	ERAP2	cis	Thyroid	GTEx
rs2910787	ERAP2	cis	lung	GTEx
rs2910787	ERAP2	cis	cerebellum	SCAN
rs2910787	LNPEP	cis	parietal	SCAN
rs2910787	ERAP2	cis	Stomach	GTEx
rs2910787	LRAP	cis	normal skin	skin_eQTL
rs2910787	LRAP	cis	lesional skin	skin_eQTL
rs2910787	ERAP2	cis	Artery Tibial	GTEx
rs2910787	LRAP	cis	uninvolved skin	skin_eQTL
rs2910787	ERAP2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96272600-96274600	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr5:96272600-96274600	Flanking Active TSS	Dnd41	blood
3	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
4	chr5:96272800-96276400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:96272800-96279000	Weak transcription	Esophagus	oesophagus
6	chr5:96273000-96274400	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:96273000-96274400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:96273000-96274400	Enhancers	Stomach Mucosa	stomach
9	chr5:96273000-96274600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:96273000-96274600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr5:96273000-96274600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr5:96273000-96274600	Enhancers	Liver	Liver
13	chr5:96273000-96274600	Enhancers	Brain Angular Gyrus	brain
14	chr5:96273000-96274600	Enhancers	Small Intestine	intestine
15	chr5:96273000-96274800	Weak transcription	Psoas Muscle	Psoas
16	chr5:96273000-96275800	Weak transcription	Right Ventricle	heart
17	chr5:96273000-96276400	Weak transcription	Gastric	stomach
18	chr5:96273000-96276400	Weak transcription	Left Ventricle	heart
19	chr5:96273000-96276400	Weak transcription	Pancreas	Pancrea
20	chr5:96273000-96278000	Weak transcription	Lung	lung
21	chr5:96273000-96279000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
24	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
25	chr5:96273200-96274400	Enhancers	Hela-S3	cervix
26	chr5:96273200-96274400	Enhancers	NHLF	lung
27	chr5:96273200-96274600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:96273200-96274600	Enhancers	Brain Hippocampus Middle	brain
29	chr5:96273200-96274600	Enhancers	Brain Substantia Nigra	brain
30	chr5:96273200-96274600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:96273200-96274600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:96273200-96274800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:96273200-96275200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:96273200-96275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:96273200-96275800	Weak transcription	NH-A	brain
36	chr5:96273200-96276600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:96273200-96276800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr5:96273200-96279600	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:96273400-96274400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:96273400-96274400	Enhancers	Osteobl	bone
41	chr5:96273400-96274600	Enhancers	Adipose Nuclei	Adipose
42	chr5:96273400-96274600	Enhancers	Fetal Intestine Small	intestine
43	chr5:96273400-96274800	Enhancers	HepG2	liver
44	chr5:96273400-96277400	Weak transcription	Fetal Thymus	thymus
45	chr5:96273400-96278000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:96273400-96278400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr5:96273400-96281000	Weak transcription	Fetal Lung	lung
48	chr5:96273400-96292800	Weak transcription	K562	blood
49	chr5:96273600-96274400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:96273600-96274400	Enhancers	Monocytes-CD14+_RO01746	blood

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