Variant report

Variant	rs2416544
Chromosome Location	chr12:11321754-11321755
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:11321729-11322187	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:11319524..11322672-chr12:11327790..11329876,3	K562	blood:
2	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:
3	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
4	chr12:11305963..11307778-chr12:11320595..11323061,2	MCF-7	breast:
5	chr12:11305022..11306977-chr12:11320566..11323484,2	MCF-7	breast:
6	chr12:11318981..11321975-chr12:11322024..11324803,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256537	TF binding region
ENSG00000111215	Chromatin interaction
ENSG00000256712	Chromatin interaction
ENSG00000256537	Chromatin interaction
ENSG00000212127	Chromatin interaction
ENSG00000256629	Chromatin interaction

Extended variants
information (count: 267 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:257)

rs_ID	r²[population]
rs1031391	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1031392	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1047709	0.82[ASN][1000 genomes]
rs1047712	0.80[ASN][1000 genomes]
rs11557132	0.99[ASN][1000 genomes]
rs1376742	0.88[ASN][1000 genomes]
rs1451765	0.96[ASN][1000 genomes]
rs1451772	0.96[ASN][1000 genomes]
rs1551191	0.98[ASN][1000 genomes]
rs1551192	0.88[ASN][1000 genomes]
rs1650020	0.96[ASN][1000 genomes]
rs1650029	0.98[ASN][1000 genomes]
rs1650030	0.96[ASN][1000 genomes]
rs1650031	0.96[ASN][1000 genomes]
rs1650053	0.98[ASN][1000 genomes]
rs1669410	0.95[ASN][1000 genomes]
rs1669412	0.96[ASN][1000 genomes]
rs1669414	0.96[ASN][1000 genomes]
rs1669418	0.96[ASN][1000 genomes]
rs1669422	0.95[ASN][1000 genomes]
rs1817044	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1817104	0.96[ASN][1000 genomes]
rs1823663	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1823664	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1839859	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863848	0.81[ASN][1000 genomes]
rs2007667	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2008253	0.88[ASN][1000 genomes]
rs2019629	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2019633	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123006	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123007	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218818	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264190	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2264192	0.90[AFR][1000 genomes]
rs2264193	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2264229	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2416545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416548	0.82[ASN][1000 genomes]
rs2416549	0.82[ASN][1000 genomes]
rs2443094	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2443739	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2559581	0.93[ASN][1000 genomes]
rs2597918	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2597919	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2597920	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2597921	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2597923	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2597927	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2597929	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2597930	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2597931	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2597934	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2597935	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2597936	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2597937	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597938	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2597939	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2597940	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2597941	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2597943	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2597944	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2597945	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2597946	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2597947	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597949	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597950	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597951	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597952	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597955	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597957	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597959	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597960	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597963	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597964	0.88[AFR][1000 genomes]
rs2597965	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597966	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2597967	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597968	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597969	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597970	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597971	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597972	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2597973	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2599395	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2599396	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2599397	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2599398	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2599400	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2599404	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2599405	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2599411	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2599414	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2600332	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600333	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2600334	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2600335	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2600336	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2600338	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600339	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600341	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600342	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2600344	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600345	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600346	0.92[AFR][1000 genomes]
rs2600348	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2600349	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2600350	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2600351	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2600352	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2600353	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2600354	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2600355	0.84[ASN][1000 genomes]
rs2600356	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2600357	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2600358	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2600359	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2600361	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2600363	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2600364	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2600366	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2600367	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2600368	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2600369	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2600370	0.82[AFR][1000 genomes]
rs2600371	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2600372	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2708331	0.96[ASN][1000 genomes]
rs2708333	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2708335	0.95[AFR][1000 genomes]
rs2708337	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2708338	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2708339	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2708340	0.92[AFR][1000 genomes]
rs2708341	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2708342	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2708343	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2708344	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2708345	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2708348	0.83[AFR][1000 genomes]
rs2708349	0.85[AFR][1000 genomes]
rs2708350	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2708352	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2708353	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2708354	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2708356	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2708357	0.95[AFR][1000 genomes]
rs2708358	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2708359	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2708361	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2708362	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2708363	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2708364	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2708365	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2708366	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2708368	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2708369	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2708370	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2708371	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2923235	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2923860	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319267	0.96[ASN][1000 genomes]
rs319268	0.96[ASN][1000 genomes]
rs319271	0.96[ASN][1000 genomes]
rs319272	0.96[ASN][1000 genomes]
rs319273	0.95[ASN][1000 genomes]
rs319274	0.96[ASN][1000 genomes]
rs34000114	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34018339	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34032935	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34082341	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34241192	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34270405	1.00[ASN][1000 genomes]
rs34288418	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34327967	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34436598	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34444884	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34531956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34536990	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34548551	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34590962	0.97[ASN][1000 genomes]
rs34685506	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34769150	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34843817	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34927715	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35017789	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35021653	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35119575	0.98[ASN][1000 genomes]
rs35124606	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35151793	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35183723	0.98[ASN][1000 genomes]
rs35280352	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35326227	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35340812	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35699328	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35813024	0.88[ASN][1000 genomes]
rs35856529	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35893804	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36050405	0.88[ASN][1000 genomes]
rs36062343	0.88[ASN][1000 genomes]
rs36115011	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36147394	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs36185691	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3906996	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3911800	0.99[ASN][1000 genomes]
rs4583064	0.82[ASN][1000 genomes]
rs4763638	0.98[ASN][1000 genomes]
rs61928449	0.86[ASN][1000 genomes]
rs61928562	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61928564	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61928565	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61928566	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61928569	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61928595	0.88[ASN][1000 genomes]
rs61928597	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61928602	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61928610	0.88[ASN][1000 genomes]
rs61928618	1.00[ASN][1000 genomes]
rs61928619	1.00[ASN][1000 genomes]
rs61928642	1.00[ASN][1000 genomes]
rs61928643	1.00[ASN][1000 genomes]
rs61928644	0.97[ASN][1000 genomes]
rs61928646	0.87[ASN][1000 genomes]
rs61931266	0.86[ASN][1000 genomes]
rs61931270	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61931274	0.88[ASN][1000 genomes]
rs61931278	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61931279	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6488347	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488348	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488349	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488350	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488351	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6488355	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6488356	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7298544	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302010	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310047	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312327	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7313796	0.88[ASN][1000 genomes]
rs7350611	0.81[ASN][1000 genomes]
rs7486717	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7488095	0.82[ASN][1000 genomes]
rs7488102	0.80[ASN][1000 genomes]
rs7955495	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7959320	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7960823	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7965506	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970225	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7973730	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976211	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8300	1.00[ASN][1000 genomes]
rs977473	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv898783	chr12:11185236-11338781	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv898784	chr12:11188140-11341521	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS 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
10	nsv1042134	chr12:11220712-11328131	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2416544	TAS2R43	cis	lung	GTEx
rs2416544	TAS2R64P	cis	Nerve Tibial	GTEx
rs2416544	TAS2R64P	cis	lung	GTEx
rs2416544	TAS2R64P	cis	Thyroid	GTEx
rs2416544	TAS2R43	cis	Nerve Tibial	GTEx
rs2416544	TAS2R43	cis	Thyroid	GTEx
rs2416544	TAS2R43	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11270400-11323200	Weak transcription	Fetal Kidney	kidney
2	chr12:11273800-11321800	Weak transcription	Osteobl	bone
3	chr12:11291600-11321800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:11301600-11323200	Weak transcription	Colonic Mucosa	Colon
5	chr12:11302600-11323200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:11303800-11323600	Weak transcription	Esophagus	oesophagus
7	chr12:11304000-11322600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:11304000-11323200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:11304000-11323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:11304000-11323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:11304200-11322000	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:11309200-11321800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:11310200-11321800	Weak transcription	NH-A	brain
14	chr12:11311800-11321800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:11312000-11321800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:11312000-11323400	Weak transcription	Stomach Mucosa	stomach
17	chr12:11312200-11321800	Weak transcription	Right Ventricle	heart
18	chr12:11312400-11321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:11312600-11321800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:11313800-11321800	Weak transcription	NHDF-Ad	bronchial
21	chr12:11313800-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:11313800-11323600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:11314200-11322000	Weak transcription	NHLF	lung
24	chr12:11315200-11322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:11315400-11321800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:11317800-11322000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:11318600-11322400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:11319000-11321800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:11319000-11321800	Weak transcription	Aorta	Aorta
30	chr12:11319000-11321800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:11319000-11322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:11319000-11322000	Weak transcription	Gastric	stomach
33	chr12:11319200-11321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:11319200-11321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:11319200-11321800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:11319200-11321800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:11319200-11321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:11319200-11321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:11319200-11321800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:11319200-11321800	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:11319200-11321800	Weak transcription	Thymus	Thymus
42	chr12:11319200-11322000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:11319200-11322000	Weak transcription	Pancreas	Pancrea
44	chr12:11319200-11322600	Weak transcription	HSMMtube	muscle
45	chr12:11319200-11322600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:11319200-11323000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:11319200-11323000	Weak transcription	Fetal Intestine Large	intestine
48	chr12:11319200-11323200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:11319200-11323400	Weak transcription	Placenta	Placenta
50	chr12:11319200-11323600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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