Variant report

Variant	rs4501523
Chromosome Location	chr7:124540772-124540773
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	POLR2A	chr7:124540752-124540879	A549	lung:	n/a	n/a

Variant related genes	Relation type
POT1	TF binding region

Extended variants
information (count: 333 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:321)

rs_ID	r²[population]
rs10081226	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10081265	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10081266	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10081290	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10081336	0.86[EUR][1000 genomes]
rs10081375	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10085793	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10085867	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10085888	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011721	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1011722	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1011723	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10156168	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1021080	0.89[EUR][1000 genomes]
rs10223980	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10225140	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10227119	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10227821	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10228376	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10228459	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10228682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229152	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231355	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10231491	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10231818	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10233306	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10233589	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10236403	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10236782	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10237080	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10239507	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10243479	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10243490	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10243736	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10243992	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10244797	0.89[EUR][1000 genomes]
rs10245872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246553	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10250202	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10250911	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10252039	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10252072	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10252443	0.86[EUR][1000 genomes]
rs10252579	0.89[EUR][1000 genomes]
rs10252798	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10255209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255638	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10257255	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10257712	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10260227	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10260710	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10261610	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10263573	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10264288	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10264766	0.92[EUR][1000 genomes]
rs10269011	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270784	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10271687	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10272583	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272889	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10274820	0.89[EUR][1000 genomes]
rs10279816	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10280341	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10500098	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10954045	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954050	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10954051	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10954056	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10954062	0.89[EUR][1000 genomes]
rs11763920	0.89[EUR][1000 genomes]
rs11767649	0.85[EUR][1000 genomes]
rs11767737	0.89[EUR][1000 genomes]
rs11769711	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11975788	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11978628	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11978656	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11979724	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11980925	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11981797	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11983251	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12111658	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12111660	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12112909	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12154816	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155120	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12530981	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536146	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12536575	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537161	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538333	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538641	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12540168	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666427	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706626	0.89[EUR][1000 genomes]
rs12706629	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13228116	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13231916	0.89[EUR][1000 genomes]
rs13240043	0.89[EUR][1000 genomes]
rs13240512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13307657	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1383751	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1468377	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1468378	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481328	0.89[EUR][1000 genomes]
rs1481329	0.89[EUR][1000 genomes]
rs1481331	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481332	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481337	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1481340	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1481343	0.88[EUR][1000 genomes]
rs1531715	0.89[EUR][1000 genomes]
rs1531716	0.89[EUR][1000 genomes]
rs1552119	0.89[EUR][1000 genomes]
rs1552120	0.89[EUR][1000 genomes]
rs1557969	0.81[ASN][1000 genomes]
rs1600738	0.89[EUR][1000 genomes]
rs1600739	0.89[EUR][1000 genomes]
rs1600740	0.88[EUR][1000 genomes]
rs1600743	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1600745	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1600746	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16871295	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17147494	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17147496	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17147583	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1842615	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1842616	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1871770	0.89[EUR][1000 genomes]
rs1904975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994022	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1994023	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2040926	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2054585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079368	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2079369	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2107936	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2127971	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2170353	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2219954	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286173	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286174	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301930	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402753	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402755	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402756	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2402760	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2402762	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28409696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491035	0.85[EUR][1000 genomes]
rs28807101	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28817916	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28820311	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2896360	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2896361	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213667	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34014883	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34395250	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34600520	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34618371	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34630567	0.88[EUR][1000 genomes]
rs34865746	0.85[EUR][1000 genomes]
rs35184624	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35332300	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35630355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815221	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3919896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146110	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279518	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4311608	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319000	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4360235	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379394	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397336	0.87[EUR][1000 genomes]
rs4422720	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4461840	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4463363	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467880	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4529402	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4552839	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4568548	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4584095	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4728009	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4728010	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4728011	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4728012	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731216	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731217	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731218	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731221	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731222	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731223	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731224	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56321660	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57458159	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62478914	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6415362	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466948	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466949	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466950	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466952	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466953	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466954	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466955	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466956	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466960	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466961	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466962	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466963	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6466964	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466965	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6466966	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466967	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466968	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466969	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466970	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466971	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6466972	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466982	0.88[EUR][1000 genomes]
rs6945104	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948181	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6948345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949341	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952529	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6953168	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954614	0.88[EUR][1000 genomes]
rs6956499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959244	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6959491	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6959665	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960027	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960139	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6960504	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960683	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963177	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6964090	0.82[AMR][1000 genomes]
rs6966415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6967988	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6968187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968500	0.93[ASN][1000 genomes]
rs6968573	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6968693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971179	0.90[EUR][1000 genomes]
rs6971413	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6973134	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973447	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973812	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980448	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71576215	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719972	0.89[EUR][1000 genomes]
rs720615	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs720616	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs727506	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7357296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7456392	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7776744	0.90[EUR][1000 genomes]
rs7776821	0.88[EUR][1000 genomes]
rs7777126	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7778544	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778956	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779594	0.89[EUR][1000 genomes]
rs7780392	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7781148	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7782031	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7782327	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7782340	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782410	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7782525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783781	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7786384	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7787025	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7787765	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7788066	0.88[EUR][1000 genomes]
rs7788458	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7789859	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790975	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7791399	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7791488	0.89[EUR][1000 genomes]
rs7792883	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7793258	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7793441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795199	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795218	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795233	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795492	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795605	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795611	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795934	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7796015	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799518	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7799523	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7799535	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7799747	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7799938	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801140	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802007	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7802210	0.89[EUR][1000 genomes]
rs7806126	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7807707	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808203	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811607	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7811608	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs886704	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9332427	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs962863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692367	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9886177	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv525729	chr7:124538036-124549573	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4501523	RP11-3B12.1	cis	Artery Aorta	GTEx
rs4501523	RP11-3B12.4	cis	Artery Tibial	GTEx
rs4501523	RP11-3B12.1	cis	Artery Tibial	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
3	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:124466800-124540800	Weak transcription	Gastric	stomach
6	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
7	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:124527600-124562200	Weak transcription	A549	lung
10	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:124527800-124540800	Weak transcription	Placenta	Placenta
13	chr7:124528000-124567400	Weak transcription	HepG2	liver
14	chr7:124528400-124542800	Weak transcription	Spleen	Spleen
15	chr7:124529200-124542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:124530000-124540800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:124531000-124542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:124531400-124540800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:124531400-124559800	Weak transcription	Ovary	ovary
23	chr7:124531600-124540800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:124532200-124540800	Weak transcription	Adipose Nuclei	Adipose
26	chr7:124532600-124552400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:124532600-124562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:124532600-124568400	Weak transcription	NHDF-Ad	bronchial
29	chr7:124532600-124568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:124532600-124569000	Weak transcription	HSMM	muscle
31	chr7:124532800-124557000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:124532800-124559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:124532800-124568400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:124532800-124569000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:124533200-124562800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:124534000-124550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:124534600-124558400	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:124535000-124556800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:124535400-124551800	Weak transcription	K562	blood
40	chr7:124535600-124551800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:124535800-124541600	Weak transcription	Fetal Heart	heart
42	chr7:124535800-124552400	Weak transcription	Primary B cells from cord blood	blood
43	chr7:124535800-124563000	Weak transcription	Primary T cells from cord blood	blood
44	chr7:124536000-124540800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:124537400-124553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:124537800-124566000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:124538000-124540800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:124538000-124552800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:124538000-124552800	Weak transcription	Liver	Liver
50	chr7:124538000-124553200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

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