Variant report

Variant	rs2389809
Chromosome Location	chr4:120377399-120377400
allele	A/G
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	chr4:120377301-120377775	GM12878	blood:	n/a	n/a
2	PAX5	chr4:120377383-120377780	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:120377326-120378803	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119679216..119681142-chr4:120375525..120377542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245958	TF binding region
ENSG00000250950	TF binding region
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 290 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:278)

rs_ID	r²[population]
rs10003567	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10004144	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10006259	0.80[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10006525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10006706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10006793	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10006877	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10008459	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10008791	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10009450	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10009626	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10013042	0.81[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap]
rs10013305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10017335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10017389	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018280	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10018726	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10019406	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10019522	0.80[AMR][1000 genomes]
rs10019674	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10020027	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10026493	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10026516	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10026736	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10026748	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10026952	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10030660	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10031483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031665	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10032151	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10032158	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10034450	0.87[CEU][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10034623	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10050092	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs1010739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1010740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1011054	0.89[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs10518300	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10518328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10518329	0.89[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10518336	0.86[CHB][hapmap]
rs11098499	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs11098501	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs11098506	0.90[CEU][hapmap]
rs11098524	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098525	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098526	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098527	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11098530	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098531	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11098532	0.85[ASN][1000 genomes]
rs1155576	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11723090	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11724758	0.86[CHB][hapmap]
rs11726229	0.84[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11729521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11731571	0.82[CHB][hapmap]
rs11731756	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11732686	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs11734241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11736416	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11737395	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11933966	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11934314	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11934328	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11934397	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11934940	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11935596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11940028	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11941859	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11943877	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11947234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12498539	0.86[ASN][1000 genomes]
rs12498599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12499324	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502389	0.85[ASN][1000 genomes]
rs12502423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12502909	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12505735	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12505878	0.93[AMR][1000 genomes]
rs12505953	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12507565	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs12507964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12508504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12510138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12511640	0.80[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs12513083	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12711071	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs13107475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13134665	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13145352	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13149407	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13435802	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1383532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1383533	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1480930	0.83[ASN][1000 genomes]
rs1480931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1480936	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1480939	0.86[ASN][1000 genomes]
rs1480940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1511017	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs1511025	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1546502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1546503	0.84[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs1546505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1552092	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1552095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17005535	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17006190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008998	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17009122	0.81[ASN][1000 genomes]
rs17046116	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17046118	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17050695	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1809406	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980025	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1980026	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2127821	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2127823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2170276	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2291185	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2306455	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306456	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2306457	0.86[ASN][1000 genomes]
rs2389803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28374462	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28394590	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28408407	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28441656	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28444327	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28450134	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28461559	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28479042	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28495013	0.82[AMR][1000 genomes]
rs28499576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28529639	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28535956	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs28559989	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28567426	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28571712	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28578366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs28587142	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28587175	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28626372	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28632018	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28655325	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28665282	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28685688	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28712309	0.82[AMR][1000 genomes]
rs28714318	0.82[AMR][1000 genomes]
rs28718422	0.86[ASN][1000 genomes]
rs28735358	0.86[ASN][1000 genomes]
rs28753180	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28845498	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2892848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34004415	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34308924	0.86[ASN][1000 genomes]
rs34378623	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34566984	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34858317	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34868248	0.86[ASN][1000 genomes]
rs34954036	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35063680	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35111011	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35111518	0.84[ASN][1000 genomes]
rs35494005	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36040693	0.86[ASN][1000 genomes]
rs3733519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733520	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733523	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733524	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733525	0.87[ASN][1000 genomes]
rs3736115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3749591	0.89[CEU][hapmap];0.90[CHB][hapmap]
rs3756156	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3775841	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3775843	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3775844	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3775845	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3775847	0.87[ASN][1000 genomes]
rs3775848	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3775849	0.86[ASN][1000 genomes]
rs3775852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3775854	0.86[ASN][1000 genomes]
rs3775858	0.85[ASN][1000 genomes]
rs3806808	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs3822190	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3822191	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3822192	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3822194	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3822195	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4001185	0.82[AMR][1000 genomes]
rs4001190	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4001191	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4577559	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55825515	0.85[ASN][1000 genomes]
rs56270433	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56372521	0.85[AMR][1000 genomes]
rs58452170	0.86[ASN][1000 genomes]
rs59182778	0.80[AMR][1000 genomes]
rs59732491	0.85[ASN][1000 genomes]
rs6534139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6534140	0.85[ASN][1000 genomes]
rs6534141	0.85[ASN][1000 genomes]
rs66506550	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67265404	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6820115	0.81[ASN][1000 genomes]
rs6822679	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6824111	0.90[CEU][hapmap]
rs6832740	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6834796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6835635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6837828	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837898	0.89[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs6838814	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6842762	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847818	0.86[ASN][1000 genomes]
rs6848389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6849171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6849561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6849889	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs6853998	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6858592	0.86[ASN][1000 genomes]
rs6858777	0.86[ASN][1000 genomes]
rs714899	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs71614422	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71614438	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71614443	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71614444	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71614448	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71614449	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71629403	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71629404	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73842633	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7436506	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7654529	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7654546	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7654587	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656252	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7659194	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7659336	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7659501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7659551	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7664458	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7664986	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7665125	0.90[CEU][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7672594	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7678400	0.86[ASN][1000 genomes]
rs7680063	0.81[ASN][1000 genomes]
rs7680704	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7681214	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681978	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7687843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7688613	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7688802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7692994	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs7695620	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7699064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs878372	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs907205	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs9683709	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9684475	0.83[ASN][1000 genomes]
rs9685777	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9685784	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9759478	0.87[ASN][1000 genomes]
rs9760442	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9884402	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9991959	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs9993199	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9994730	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9994810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9995026	0.85[ASN][1000 genomes]
rs9995136	0.90[CEU][hapmap];0.81[YRI][hapmap]
rs9997631	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9998585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9999724	0.80[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]

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	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	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2389809	RP11-33B1.1	cis	lung	GTEx
rs2389809	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs2389809	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs2389809	RP11-33B1.1	cis	Thyroid	GTEx
rs2389809	LOC284701///FLJ14186///LOC441124///LOC641693///LOC642788///LOC653056	cis	lesional skin	skin_eQTL
rs2389809	RP11-33B1.1	cis	Whole Blood	GTEx
rs2389809	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs2389809	RP11-384K6.6	cis	Whole Blood	GTEx
rs2389809	LOC284701///FLJ14186///LOC441124///LOC641693///LOC642788///LOC653056	cis	normal skin	skin_eQTL
rs2389809	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs2389809	RP11-33B1.4	cis	Whole Blood	GTEx
rs2389809	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs2389809	LOC284701///FLJ14186///LOC441124///LOC641693///LOC642788///LOC653056	cis	uninvolved skin	skin_eQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120374800-120377400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:120374800-120377400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:120375000-120377400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:120375000-120377400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:120375000-120377400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:120375000-120377400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:120375200-120377400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr4:120375200-120377400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:120375200-120377400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:120375200-120377400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:120375200-120377400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:120375200-120377400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:120375200-120377400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:120375200-120377400	Active TSS	Brain Germinal Matrix	brain
15	chr4:120375200-120377400	Active TSS	Colonic Mucosa	Colon
16	chr4:120375200-120377400	Active TSS	Fetal Brain Female	brain
17	chr4:120375200-120377400	Active TSS	Fetal Intestine Large	intestine
18	chr4:120375200-120377400	Active TSS	Fetal Kidney	kidney
19	chr4:120375200-120377400	Active TSS	Ovary	ovary
20	chr4:120375200-120377400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:120375200-120377400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr4:120375200-120377400	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:120375200-120377400	Active TSS	Stomach Smooth Muscle	stomach
24	chr4:120375200-120377400	Active TSS	Thymus	Thymus
25	chr4:120375200-120377400	Active TSS	GM12878-XiMat	blood
26	chr4:120375200-120377400	Active TSS	Hela-S3	cervix
27	chr4:120375200-120377400	Active TSS	HSMM	muscle
28	chr4:120375200-120377400	Active TSS	HUVEC	blood vessel
29	chr4:120375200-120377400	Active TSS	K562	blood
30	chr4:120375200-120377400	Active TSS	NHLF	lung
31	chr4:120375200-120377400	Active TSS	Osteobl	bone
32	chr4:120375200-120377600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:120375200-120377600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:120375200-120377600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:120375200-120377600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:120375200-120377600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:120375200-120377600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:120375200-120377600	Active TSS	Primary hematopoietic stem cells	blood
39	chr4:120375200-120377600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:120375200-120377600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:120375200-120377600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:120375200-120377600	Active TSS	HMEC	breast
43	chr4:120375200-120377600	Active TSS	HSMMtube	muscle
44	chr4:120375200-120377600	Active TSS	NHDF-Ad	bronchial
45	chr4:120375200-120377600	Active TSS	NHEK	skin
46	chr4:120375200-120377800	Active TSS	HepG2	liver
47	chr4:120375400-120377400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:120375400-120377400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:120375400-120377400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:120376200-120383800	Weak transcription	Fetal Brain Male	brain

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