Variant report

Variant	rs34868248
Chromosome Location	chr4:120442430-120442431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:120442427-120442807	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:120442319-120442733	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:120442296-120443453	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120415639..120417290-chr4:120441000..120443323,2	K562	blood:
2	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
3	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
4	chr4:120442217..120444680-chr4:120461087..120463839,2	K562	blood:
5	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:

No data

Variant related genes	Relation type
PDE5A	TF binding region
ENSG00000245958	Chromatin interaction
ENSG00000138735	Chromatin interaction

Extended variants
information (count: 223 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs10004144	0.81[ASN][1000 genomes]
rs10006525	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10006706	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10006793	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10008459	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10008791	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10009450	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10009626	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10013305	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10017335	0.86[ASN][1000 genomes]
rs10017389	0.85[ASN][1000 genomes]
rs10018280	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10018726	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10019674	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10020027	0.85[ASN][1000 genomes]
rs10026493	0.81[ASN][1000 genomes]
rs10026516	0.84[ASN][1000 genomes]
rs10026736	0.85[ASN][1000 genomes]
rs10026952	0.83[ASN][1000 genomes]
rs10030660	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10031483	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10031665	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10032151	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10032158	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10034450	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10034623	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10050092	0.82[ASN][1000 genomes]
rs1010739	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1010740	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518328	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11098524	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098525	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098526	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098527	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11098530	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11098531	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098532	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1155576	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11723090	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11729521	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11731756	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734241	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11736416	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11737395	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11933966	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11934314	0.87[ASN][1000 genomes]
rs11934940	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11935596	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940028	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11943877	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11947234	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498539	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498599	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499324	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12502389	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12502423	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12502909	0.86[ASN][1000 genomes]
rs12504773	0.81[EUR][1000 genomes]
rs12505735	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12505953	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12507964	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12508504	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12510138	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13107475	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13128602	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13134665	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13136462	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13140391	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13140409	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13145352	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13149407	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1383532	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1383533	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480931	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1480936	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480939	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480940	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552092	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1552095	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17005535	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17006190	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17046116	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17046118	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17050695	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809406	0.81[ASN][1000 genomes]
rs2086450	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2127823	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2170276	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291185	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306455	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306456	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306457	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389803	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2389809	0.86[ASN][1000 genomes]
rs2389885	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28374462	0.85[ASN][1000 genomes]
rs28394116	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28408407	0.84[ASN][1000 genomes]
rs28441656	0.84[ASN][1000 genomes]
rs28444327	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28461559	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28479042	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28499576	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28535956	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28559989	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28571712	0.86[ASN][1000 genomes]
rs28578366	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28587142	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28632018	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28665282	0.81[ASN][1000 genomes]
rs28685688	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28718422	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28735358	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28753180	0.84[ASN][1000 genomes]
rs28845498	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2892848	0.87[ASN][1000 genomes]
rs34004415	0.85[ASN][1000 genomes]
rs34308924	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34858317	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35063680	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35111518	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36040693	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3733519	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3733520	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3733523	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733524	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733525	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3736115	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756156	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3775841	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775843	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775844	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775845	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775847	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775848	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775849	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775852	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775854	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775858	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822190	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822191	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822192	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822194	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822195	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4001190	0.80[ASN][1000 genomes]
rs4577559	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4596225	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4998488	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55825515	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56270433	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58452170	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59732491	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534139	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6534140	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534141	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6822679	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6829903	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6832740	0.81[ASN][1000 genomes]
rs6833334	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6834796	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6835635	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6837828	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6838814	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6842762	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6847818	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848389	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6849171	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6849561	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6853998	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6855918	0.81[ASN][1000 genomes]
rs6858592	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858777	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71614443	0.85[ASN][1000 genomes]
rs71614444	0.87[ASN][1000 genomes]
rs71614448	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71614449	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71629403	0.80[ASN][1000 genomes]
rs71629404	0.80[ASN][1000 genomes]
rs7436506	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7654529	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7654546	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7654587	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7656252	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7659336	0.83[ASN][1000 genomes]
rs7659551	0.80[ASN][1000 genomes]
rs7664986	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7669520	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7678400	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7680063	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7680704	0.81[ASN][1000 genomes]
rs7680914	0.81[EUR][1000 genomes]
rs7681214	0.83[ASN][1000 genomes]
rs7681544	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681978	0.85[ASN][1000 genomes]
rs7687843	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7688613	0.81[ASN][1000 genomes]
rs7688802	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7692994	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7693919	0.81[ASN][1000 genomes]
rs7695292	0.81[EUR][1000 genomes]
rs7695620	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7699064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9884402	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9993199	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9994730	0.87[ASN][1000 genomes]
rs9994810	0.87[ASN][1000 genomes]
rs9995026	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9997631	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998585	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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
11	esv1802153	chr4:120397829-120457682	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs34868248	RP11-384K6.6	cis	Whole Blood	GTEx
rs34868248	RP11-33B1.4	cis	Whole Blood	GTEx
rs34868248	RP11-33B1.1	cis	Whole Blood	GTEx
rs34868248	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs34868248	RP11-33B1.1	cis	lung	GTEx
rs34868248	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs34868248	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs34868248	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
3	chr4:120397800-120442600	Weak transcription	Hela-S3	cervix
4	chr4:120403400-120445800	Weak transcription	A549	lung
5	chr4:120417600-120445800	Weak transcription	NHEK	skin
6	chr4:120420200-120485400	Weak transcription	Fetal Brain Male	brain
7	chr4:120420400-120449600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:120421000-120443600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:120421000-120445600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:120421200-120455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:120422000-120446400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:120422800-120446600	Weak transcription	Fetal Stomach	stomach
13	chr4:120422800-120448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:120423400-120450600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:120428000-120444800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr4:120430800-120447400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:120432800-120443000	Strong transcription	Primary T cells from cord blood	blood
18	chr4:120433400-120442600	Strong transcription	Fetal Thymus	thymus
19	chr4:120433400-120442800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:120433400-120442800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:120433400-120444600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:120433600-120442800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:120434600-120474400	Weak transcription	Gastric	stomach
24	chr4:120434800-120442600	Weak transcription	Psoas Muscle	Psoas
25	chr4:120434800-120444200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:120434800-120446000	Weak transcription	HSMMtube	muscle
27	chr4:120434800-120446200	Weak transcription	HMEC	breast
28	chr4:120434800-120446400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:120434800-120448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:120434800-120455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:120434800-120464800	Weak transcription	Lung	lung
32	chr4:120435000-120457800	Weak transcription	Right Ventricle	heart
33	chr4:120435000-120473200	Weak transcription	Esophagus	oesophagus
34	chr4:120435000-120487600	Weak transcription	Colonic Mucosa	Colon
35	chr4:120435200-120442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:120435200-120455800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:120435400-120442600	Weak transcription	Left Ventricle	heart
38	chr4:120435400-120448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:120436200-120473800	Weak transcription	Fetal Brain Female	brain
40	chr4:120436600-120446000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:120436600-120452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:120436600-120455000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:120436600-120456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:120436600-120471600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:120436800-120446600	Weak transcription	Aorta	Aorta
46	chr4:120436800-120474000	Weak transcription	Thymus	Thymus
47	chr4:120437200-120444400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:120437600-120450600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:120437600-120474200	Weak transcription	Brain Substantia Nigra	brain
50	chr4:120437800-120450400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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