Variant report

Variant	rs7531911
Chromosome Location	chr1:46330423-46330424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46328886..46331555-chr1:46334023..46336229,2	K562	blood:
2	chr1:46329307..46330807-chr1:46606097..46608904,2	K562	blood:
3	chr1:46329534..46331128-chr1:46362467..46364128,2	K562	blood:
4	chr1:46330055..46331827-chr1:46334729..46336546,2	K562	blood:
5	chr1:46267697..46270264-chr1:46329248..46331821,2	K562	blood:
6	chr1:46048521..46050568-chr1:46327605..46330996,3	K562	blood:
7	chr1:45985982..45988652-chr1:46328949..46330795,2	K562	blood:

Variant related genes	Relation type
ENSG00000086015	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 277 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:239)

rs_ID	r²[population]
rs10127690	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10158032	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10430105	0.89[TSI][hapmap]
rs10430123	0.89[TSI][hapmap]
rs10430124	0.86[TSI][hapmap]
rs10437063	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10732844	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10749858	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789470	0.89[TSI][hapmap]
rs10789471	0.81[CHD][hapmap];0.86[TSI][hapmap]
rs10789474	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs10789475	0.94[ASN][1000 genomes]
rs10789478	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789479	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789484	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789485	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789486	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890346	0.84[GIH][hapmap];0.89[TSI][hapmap]
rs10890347	0.84[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs10890348	0.80[EUR][1000 genomes]
rs10890350	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890353	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890355	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10890358	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890359	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890360	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890361	0.92[CHD][hapmap]
rs10890363	0.92[CHD][hapmap]
rs10890365	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890370	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890371	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890372	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890373	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890374	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890376	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10890377	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890378	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890380	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890381	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890382	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211157	0.89[TSI][hapmap]
rs11211161	0.87[TSI][hapmap]
rs11211163	0.89[TSI][hapmap]
rs11211168	0.82[CHD][hapmap];0.89[TSI][hapmap]
rs11211169	0.89[TSI][hapmap]
rs11211171	0.81[CHD][hapmap];0.89[TSI][hapmap]
rs11211173	0.82[CHD][hapmap];0.89[TSI][hapmap]
rs11211177	0.82[CHD][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap]
rs11211181	0.84[GIH][hapmap];0.92[TSI][hapmap]
rs11211182	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211190	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211194	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211200	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211202	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211204	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211205	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211209	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211213	0.81[CHB][hapmap]
rs11211215	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211218	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211219	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211222	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211223	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211228	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211229	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211232	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211235	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211236	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211237	0.91[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211238	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211239	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211243	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs11211244	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211248	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11579634	0.90[CHD][hapmap]
rs11810993	0.90[CHD][hapmap]
rs12022335	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12029972	0.82[ASN][1000 genomes]
rs12060274	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12067716	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12076580	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12077546	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12077916	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12077974	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12094860	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12094901	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097761	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097799	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12124291	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12124847	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12131529	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12133129	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12139630	0.81[CHB][hapmap]
rs12145287	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402590	0.80[EUR][1000 genomes]
rs12403666	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12565042	0.90[ASN][1000 genomes]
rs1622208	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap]
rs1707322	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap]
rs1707336	0.89[CHD][hapmap]
rs1707337	1.00[CEU][hapmap]
rs1768807	1.00[CEU][hapmap]
rs1768808	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs1768817	1.00[CEU][hapmap]
rs2275426	0.90[CHD][hapmap]
rs2669156	0.80[EUR][1000 genomes]
rs28370457	0.82[CHD][hapmap];0.89[TSI][hapmap]
rs28375469	0.89[TSI][hapmap]
rs28550303	0.89[TSI][hapmap]
rs28636523	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28719889	0.82[CHD][hapmap];0.89[TSI][hapmap]
rs28831083	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28890893	0.81[CHD][hapmap];0.89[TSI][hapmap]
rs34444543	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34446427	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34694458	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35018217	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35154628	0.85[ASN][1000 genomes]
rs3922886	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3922887	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4073846	0.90[CHD][hapmap]
rs4073847	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074225	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076006	0.90[CHD][hapmap]
rs4134387	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4275489	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4297233	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4298677	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390216	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4439382	0.89[TSI][hapmap]
rs4454479	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4459051	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4460583	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4489497	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4508055	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4524994	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4539075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4545281	0.92[CHD][hapmap]
rs4553121	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4559551	0.89[TSI][hapmap]
rs4606257	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4607936	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4626927	0.92[CHD][hapmap]
rs4630155	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4641257	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4660318	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660319	0.92[CHD][hapmap]
rs4660328	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes]
rs4660331	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660332	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4660334	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4660335	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4660336	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660883	0.84[GIH][hapmap];0.92[TSI][hapmap]
rs4660885	0.97[CHD][hapmap]
rs4660889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4660895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660896	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4660900	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660903	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4660904	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4660905	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4660906	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4994390	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61785584	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61785613	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61785614	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6429580	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6429581	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429582	0.92[CHD][hapmap]
rs6429588	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6657720	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6658700	0.89[TSI][hapmap]
rs6661500	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6666743	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6666763	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6671754	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6672115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674794	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6675222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675259	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap]
rs6676982	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6677777	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6680211	0.95[ASN][1000 genomes]
rs6681068	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6682683	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683274	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs6686134	0.90[CHD][hapmap]
rs6687301	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690386	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6690652	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690775	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6693336	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694340	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6695421	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6697821	0.89[TSI][hapmap]
rs6697830	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6701694	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7512395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7515491	0.92[ASN][1000 genomes]
rs7517560	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7519181	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7524495	0.92[CHD][hapmap]
rs7526369	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7526532	0.94[ASN][1000 genomes]
rs7527079	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527298	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7532204	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7534331	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7538978	0.88[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs7539800	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7540578	0.82[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs7546237	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7547189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547284	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551025	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7553924	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7556436	0.92[CHD][hapmap]
rs785465	1.00[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap]
rs785467	1.00[CEU][hapmap]
rs785468	1.00[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap]
rs785477	0.81[EUR][1000 genomes]
rs785478	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs785480	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs785508	0.96[CEU][hapmap]
rs785509	0.96[CEU][hapmap]
rs785510	1.00[CEU][hapmap]
rs925524	0.83[CEU][hapmap]
rs946524	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.80[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs946525	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs946527	0.94[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs946528	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs9787208	0.95[ASN][1000 genomes]
rs9787412	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9793167	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9803784	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9919275	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv870791	chr1:46182916-46398415	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv998925	chr1:46184925-46353041	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1003986	chr1:46184925-46417621	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv1007501	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv534944	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv1006891	chr1:46189258-46408032	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1009355	chr1:46189258-46463012	Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv871312	chr1:46196813-46353332	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	esv2830426	chr1:46202361-46347367	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv546158	chr1:46216575-46495434	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv870911	chr1:46216575-46498375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
22	nsv1013628	chr1:46221617-46356565	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
23	nsv431268	chr1:46223080-46495480	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv546159	chr1:46223086-46398415	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv461417	chr1:46223086-46416348	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv546160	chr1:46223086-46416348	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
27	nsv524147	chr1:46236098-46438076	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	nsv1007162	chr1:46244432-46417621	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	nsv1015136	chr1:46244432-46439533	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
30	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
31	nsv1007759	chr1:46248667-46493959	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv534945	chr1:46248667-46493959	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
33	nsv916232	chr1:46248686-46493918	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	nsv437479	chr1:46272879-46411146	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv1013729	chr1:46286329-46363880	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
36	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
37	nsv546161	chr1:46311275-46498375	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
38	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7531911	GPBP1L1	cis	uninvolved skin	skin_eQTL
rs7531911	GPBP1L1	cis	Lymphoblastoid	GTEx
rs7531911	GPBP1L1	cis	lesional skin	skin_eQTL
rs7531911	GPBP1L1	cis	normal skin	skin_eQTL
rs7531911	TAL1	cis	cerebellum	SCAN
rs7531911	IPP	cis	lymphoblastoid	seeQTL
rs7531911	NSUN4	cis	cerebellum	SCAN
rs7531911	Hs.396207	cis	multi-tissue	Pritchard
rs7531911	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs7531911	GPBP1L1	cis	Muscle Skeletal	GTEx
rs7531911	IPP	cis	Lymphoblastoid	GTEx
rs7531911	ELOVL1	cis	parietal	SCAN
rs7531911	MIA3	trans	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46320800-46333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:46322000-46337600	Weak transcription	Hela-S3	cervix
3	chr1:46327400-46331600	Enhancers	A549	lung
4	chr1:46329000-46331400	Enhancers	Fetal Heart	heart
5	chr1:46329200-46330600	Active TSS	Stomach Smooth Muscle	stomach
6	chr1:46329200-46333200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:46329600-46330600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:46329600-46330800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:46329600-46330800	Active TSS	Ovary	ovary
10	chr1:46329600-46331000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:46329600-46333000	Weak transcription	GM12878-XiMat	blood
12	chr1:46329800-46330600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:46329800-46330600	Active TSS	Brain Anterior Caudate	brain
14	chr1:46329800-46330600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:46329800-46330600	Active TSS	Brain Substantia Nigra	brain
16	chr1:46329800-46330600	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:46329800-46330600	Active TSS	Right Atrium	heart
18	chr1:46329800-46330800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:46329800-46330800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:46329800-46330800	Active TSS	Colon Smooth Muscle	Colon
21	chr1:46329800-46330800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:46329800-46330800	Active TSS	HSMM	muscle
23	chr1:46329800-46331000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:46329800-46331200	Active TSS	Brain Angular Gyrus	brain
25	chr1:46330000-46330600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:46330000-46330600	Active TSS	Brain Hippocampus Middle	brain
27	chr1:46330000-46330600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr1:46330000-46330600	Active TSS	Fetal Stomach	stomach
29	chr1:46330000-46330600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:46330000-46330600	Active TSS	NH-A	brain
31	chr1:46330000-46330800	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:46330000-46330800	Active TSS	Fetal Intestine Large	intestine
33	chr1:46330000-46330800	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:46330000-46330800	Active TSS	NHLF	lung
35	chr1:46330000-46331000	Active TSS	Fetal Brain Female	brain
36	chr1:46330000-46331200	Active TSS	Fetal Lung	lung
37	chr1:46330000-46331400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:46330000-46332200	Active TSS	Fetal Brain Male	brain
39	chr1:46330000-46332400	Active TSS	Brain Germinal Matrix	brain
40	chr1:46330000-46333400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:46330000-46333600	Weak transcription	Primary T cells from cord blood	blood
42	chr1:46330000-46334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:46330200-46330600	Active TSS	Fetal Kidney	kidney
44	chr1:46330200-46330600	Active TSS	Psoas Muscle	Psoas
45	chr1:46330200-46330600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:46330200-46330600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:46330200-46330800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:46330200-46331200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:46330200-46331200	Active TSS	HSMMtube	muscle
50	chr1:46330200-46331400	Active TSS	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links