Variant report

Variant	rs1707337
Chromosome Location	chr1:46508769-46508770
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	STAT3	chr1:46508767-46509011	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46507467..46509093-chr1:46597132..46599211,2	K562	blood:
2	chr1:46506900..46509372-chr1:46596626..46598832,4	MCF-7	breast:
3	chr1:46506035..46508905-chr1:46652917..46655021,2	K562	blood:

Variant related genes	Relation type
ENSG00000226957	TF binding region
ENSG00000117461	Chromatin interaction

Extended variants
information (count: 192 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10732844	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes]
rs10789478	0.95[CEU][hapmap]
rs10789484	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10789485	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10789486	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1085240	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890355	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs10890359	1.00[CEU][hapmap]
rs10890365	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs10890370	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs10890371	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890372	1.00[CEU][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890373	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs10890374	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890376	0.82[EUR][1000 genomes]
rs10890377	0.82[EUR][1000 genomes]
rs10890378	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890380	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890381	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890382	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211204	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs11211217	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs11211219	1.00[CEU][hapmap]
rs11211222	0.80[AMR][1000 genomes]
rs11211223	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs11211228	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211229	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211232	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs11211235	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211236	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211237	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211238	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211239	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211243	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap]
rs11211244	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211248	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211257	0.85[ASN][1000 genomes]
rs12022335	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes]
rs12067716	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12077546	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12090501	0.84[ASN][1000 genomes]
rs12097799	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12124291	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12124847	0.81[EUR][1000 genomes]
rs12131529	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12133129	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes]
rs12403666	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1416706	0.86[CHB][hapmap]
rs1588663	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1612419	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1613296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1622208	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1707302	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1707303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1707317	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1707322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1707338	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1707339	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1768800	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1768801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1768802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1768807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768808	0.81[CEU][hapmap]
rs1768815	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1768818	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297883	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2669156	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28831083	0.81[EUR][1000 genomes]
rs34446427	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35018217	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3922886	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3922887	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4073847	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4074225	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs4134387	1.00[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4297233	0.81[EUR][1000 genomes]
rs4454479	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4459051	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4460583	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4489497	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4524994	0.80[AMR][1000 genomes]
rs4539075	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs4660318	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs4660328	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4660331	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4660332	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4660334	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4660335	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4660336	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4660341	0.85[ASN][1000 genomes]
rs4660895	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs4660896	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes]
rs4660900	1.00[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4660903	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4660904	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4660905	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4660906	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4660910	0.83[CHB][hapmap]
rs61785584	0.84[EUR][1000 genomes]
rs61785613	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61785614	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6429588	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6657720	0.92[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes]
rs6661500	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6666763	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6671754	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6675222	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs6675259	1.00[CEU][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6677777	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6681068	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6682683	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs6687301	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6690652	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6695421	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7512395	1.00[CEU][hapmap]
rs7517560	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7519181	0.81[EUR][1000 genomes]
rs7526369	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7527079	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7527244	1.00[CEU][hapmap]
rs7527298	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7531911	1.00[CEU][hapmap]
rs7532204	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7534331	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7538978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7547189	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs7547284	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs785462	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785463	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785466	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785469	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785477	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs785478	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs785480	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs785483	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs785484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785486	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785490	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785494	0.83[CHB][hapmap]
rs785496	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785498	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs785499	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs785500	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs785501	0.89[EUR][1000 genomes]
rs785504	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs785507	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs785508	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs785509	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs785510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785513	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs785516	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs785517	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785518	0.81[ASN][1000 genomes]
rs785519	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs796773	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs809774	0.83[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs814168	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs925524	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429095	0.86[CHB][hapmap]
rs9429186	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs946524	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs946525	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs946527	0.96[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs946528	0.81[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9787412	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes]
rs9793167	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9803784	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9919275	0.81[AMR][1000 genomes];0.82[EUR][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	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009527	chr1:46286329-46520127	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1009474	chr1:46320433-46557734	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv1000557	chr1:46383876-46591182	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv2754420	chr1:46461580-46635180	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1007750	chr1:46471293-46552564	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1707337	GPBP1L1	cis	Muscle Skeletal	GTEx
rs1707337	GPBP1L1	cis	normal skin	skin_eQTL
rs1707337	GPBP1L1	cis	Lymphoblastoid	GTEx
rs1707337	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs1707337	GPBP1L1	cis	uninvolved skin	skin_eQTL
rs1707337	IPP	cis	Lymphoblastoid	GTEx
rs1707337	Hs.396207	cis	multi-tissue	Pritchard
rs1707337	GPBP1L1	cis	lesional skin	skin_eQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46475600-46525000	Weak transcription	Fetal Kidney	kidney
2	chr1:46476600-46515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:46490200-46524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46490600-46525200	Weak transcription	NH-A	brain
5	chr1:46493000-46509200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:46498000-46528200	Weak transcription	Osteobl	bone
7	chr1:46498200-46528400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:46498400-46509000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:46500400-46509200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:46500600-46508800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:46501000-46508800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:46501000-46509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:46501000-46525200	Weak transcription	Gastric	stomach
14	chr1:46501400-46508800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:46501400-46548200	Weak transcription	Aorta	Aorta
16	chr1:46501600-46523600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:46502400-46509000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:46503200-46508800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:46503200-46509000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:46503200-46509400	Weak transcription	Esophagus	oesophagus
21	chr1:46503400-46535600	Weak transcription	Brain Anterior Caudate	brain
22	chr1:46503600-46509400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:46504600-46509400	Strong transcription	Brain Germinal Matrix	brain
24	chr1:46505000-46512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:46505000-46514200	Strong transcription	Dnd41	blood
26	chr1:46505200-46510200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:46505400-46531000	Weak transcription	HUVEC	blood vessel
28	chr1:46505600-46509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:46505600-46510600	Weak transcription	Placenta	Placenta
30	chr1:46505600-46518600	Weak transcription	K562	blood
31	chr1:46505600-46527800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:46505600-46537600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:46505800-46509000	Strong transcription	Thymus	Thymus
34	chr1:46505800-46511000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:46506000-46511000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:46506000-46549400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:46506200-46510000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:46506200-46510000	Strong transcription	Fetal Intestine Large	intestine
39	chr1:46506200-46510000	Strong transcription	Fetal Intestine Small	intestine
40	chr1:46506200-46518800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:46506200-46528200	Weak transcription	Liver	Liver
42	chr1:46506600-46509000	Strong transcription	Fetal Thymus	thymus
43	chr1:46506600-46510400	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:46506800-46510200	Genic enhancers	Fetal Stomach	stomach
45	chr1:46506800-46510400	Enhancers	Primary B cells from cord blood	blood
46	chr1:46507000-46508800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:46507000-46509200	Weak transcription	Spleen	Spleen
48	chr1:46507000-46509800	Strong transcription	Hela-S3	cervix
49	chr1:46507000-46512200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:46507000-46523600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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