Variant report

Variant	rs10789478
Chromosome Location	chr1:46350506-46350507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46280079..46281713-chr1:46349138..46351196,2	K562	blood:
2	chr1:46152030..46155728-chr1:46349059..46353962,4	K562	blood:
3	chr1:46349975..46352089-chr1:46365133..46367847,2	K562	blood:
4	chr1:46183495..46186407-chr1:46349191..46350787,2	K562	blood:

Variant related genes	Relation type
ENSG00000159592	Chromatin interaction
ENSG00000159596	Chromatin interaction

Extended variants
information (count: 263 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs10127690	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10158032	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10437063	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10732844	0.95[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10749858	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10789474	0.90[CHB][hapmap]
rs10789475	0.89[ASN][1000 genomes]
rs10789479	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789484	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10789485	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10789486	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890347	0.85[CHB][hapmap]
rs10890350	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890353	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10890354	0.82[CHB][hapmap]
rs10890355	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890358	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890359	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10890360	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890361	0.81[CHB][hapmap]
rs10890363	0.81[CHB][hapmap]
rs10890365	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890370	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890371	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890372	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890373	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890374	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890376	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890377	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890378	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890380	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890381	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890382	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211182	0.86[ASN][1000 genomes]
rs11211190	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211194	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211200	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211202	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211204	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211205	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211209	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211213	0.82[CHB][hapmap]
rs11211215	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211217	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211218	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211219	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211222	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211223	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211228	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211229	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211232	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211235	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211236	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211237	0.90[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211238	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211239	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211243	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs11211244	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211248	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12022335	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12029972	0.87[ASN][1000 genomes]
rs12060274	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12067716	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12076580	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12077546	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12077916	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12077974	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12094860	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12094901	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12097761	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12097799	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12124291	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12124847	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12131529	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12133129	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12139630	0.82[CHB][hapmap]
rs12144263	0.82[CHB][hapmap]
rs12145287	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12403666	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12409773	0.82[CHB][hapmap]
rs12565042	0.85[ASN][1000 genomes]
rs1613296	0.95[CEU][hapmap]
rs1622208	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1707322	0.95[CEU][hapmap]
rs1707337	0.95[CEU][hapmap]
rs1768801	0.95[CEU][hapmap]
rs1768802	0.95[CEU][hapmap]
rs1768807	0.95[CEU][hapmap]
rs1768817	0.95[CEU][hapmap]
rs2458400	0.95[CEU][hapmap]
rs2669156	0.80[EUR][1000 genomes]
rs28636523	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28831083	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34444543	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34446427	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34694458	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35018217	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35154628	0.81[ASN][1000 genomes]
rs3922886	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3922887	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073847	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4074225	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4134387	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4275489	0.86[ASN][1000 genomes]
rs4297233	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4298677	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4376778	0.82[CHB][hapmap]
rs4390216	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4454479	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4459051	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4460583	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4489497	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4508055	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4524994	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4539075	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545281	0.81[CHB][hapmap]
rs4553121	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4606257	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4607936	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4626927	0.81[CHB][hapmap]
rs4630155	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4641257	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660318	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4660319	0.81[CHB][hapmap]
rs4660321	0.82[CHB][hapmap]
rs4660322	0.82[CHB][hapmap]
rs4660328	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660331	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4660332	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660334	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4660335	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660336	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4660885	0.81[CHB][hapmap]
rs4660889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4660895	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4660896	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4660900	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4660903	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660904	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660905	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660906	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4994390	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61785583	0.80[ASN][1000 genomes]
rs61785584	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61785613	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785614	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6429580	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6429581	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6429582	0.81[CHB][hapmap]
rs6429588	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6656992	0.82[CHB][hapmap]
rs6657720	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6661500	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666743	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6666763	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6671754	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6672115	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6674794	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6675222	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675259	0.95[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs6676982	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6677777	0.90[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6680211	0.90[ASN][1000 genomes]
rs6680380	0.82[CHB][hapmap]
rs6681068	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6682683	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6683274	0.86[CHB][hapmap]
rs6687301	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6688365	0.81[CHB][hapmap]
rs6690386	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6690652	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690775	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6693336	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694340	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6695421	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6697830	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6701614	0.82[CHB][hapmap]
rs6701694	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7512395	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7515491	0.97[ASN][1000 genomes]
rs7516008	0.80[ASN][1000 genomes]
rs7517560	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7519181	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7524495	0.81[CHB][hapmap]
rs7526369	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7526532	0.89[ASN][1000 genomes]
rs7527079	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7527244	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527298	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7530103	0.80[ASN][1000 genomes]
rs7531911	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]
rs7532204	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7534331	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7538978	0.95[CEU][hapmap]
rs7539800	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7540578	0.85[CHB][hapmap]
rs7546237	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7547189	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7547284	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7551025	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7553924	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556436	0.81[CHB][hapmap]
rs785465	0.95[CEU][hapmap]
rs785467	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs785468	0.95[CEU][hapmap]
rs785477	0.81[EUR][1000 genomes]
rs785478	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs785480	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs785506	0.95[CEU][hapmap]
rs785508	0.91[CEU][hapmap]
rs785509	0.91[CEU][hapmap]
rs785510	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs785512	0.95[CEU][hapmap]
rs925524	0.86[CEU][hapmap]
rs946524	0.95[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs946525	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs946527	0.90[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs946528	0.88[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs9787208	0.90[ASN][1000 genomes]
rs9787412	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9793167	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9803784	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9919275	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	nsv1003554	chr1:46331254-46410657	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
38	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
39	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
40	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10789478	GPBP1L1	cis	Muscle Skeletal	GTEx
rs10789478	Hs.396207	cis	multi-tissue	Pritchard
rs10789478	GPBP1L1	cis	Lymphoblastoid	GTEx
rs10789478	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs10789478	GPBP1L1	cis	uninvolved skin	skin_eQTL
rs10789478	GPBP1L1	cis	normal skin	skin_eQTL
rs10789478	GPBP1L1	cis	lesional skin	skin_eQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46330200-46353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:46330200-46357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:46332200-46357400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:46333800-46357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:46336600-46356800	Weak transcription	Small Intestine	intestine
6	chr1:46336600-46357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:46337800-46356000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:46338000-46357400	Weak transcription	Hela-S3	cervix
9	chr1:46338400-46353000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:46338400-46357600	Weak transcription	Fetal Intestine Large	intestine
11	chr1:46339200-46355000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:46342200-46357000	Weak transcription	HUVEC	blood vessel
13	chr1:46342200-46391200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:46343200-46352400	Weak transcription	Psoas Muscle	Psoas
15	chr1:46346400-46357000	Weak transcription	Left Ventricle	heart
16	chr1:46347200-46357400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:46347400-46353000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:46347400-46357200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:46347400-46357400	Weak transcription	NH-A	brain
20	chr1:46347400-46357400	Weak transcription	NHDF-Ad	bronchial
21	chr1:46347400-46378400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:46348400-46352400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:46348600-46351000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:46348600-46352800	Weak transcription	HSMMtube	muscle
25	chr1:46349200-46351000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:46349400-46350600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:46349600-46369000	Weak transcription	Dnd41	blood
28	chr1:46349800-46351000	Enhancers	A549	lung
29	chr1:46349800-46351200	Enhancers	HepG2	liver
30	chr1:46349800-46352800	Weak transcription	Osteobl	bone
31	chr1:46349800-46353200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:46349800-46353800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:46349800-46357600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:46350000-46350600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:46350000-46357400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:46350400-46350600	Enhancers	Aorta	Aorta
37	chr1:46350400-46350600	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:46350400-46350600	Enhancers	Fetal Lung	lung
39	chr1:46350400-46350600	Enhancers	K562	blood
40	chr1:46350400-46350800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:46350400-46350800	Enhancers	HMEC	breast
42	chr1:46350400-46351000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:46350400-46351200	Strong transcription	HSMM	muscle
44	chr1:46350400-46351400	Weak transcription	Rectal Mucosa Donor 29	rectum

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