Variant report

Variant	rs13036123
Chromosome Location	chr2:171952307-171952308
allele	A/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	POLR2A	chr2:171952163-171952587	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171950212..171953071-chr2:171957361..171959486,2	K562	blood:

Variant related genes	Relation type
TLK1	TF binding region

Extended variants
information (count: 199 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:197)

rs_ID	r²[population]
rs10171850	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs10177560	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10182205	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10183486	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10186343	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10189480	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10191270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10198197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10199500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10207361	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10208271	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10208341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210693	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210791	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1025240	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025241	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025242	0.94[ASN][1000 genomes]
rs1035825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1035826	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1035827	0.86[CEU][hapmap]
rs1035828	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1045327	1.00[CHB][hapmap]
rs10515934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803854	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803855	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10930449	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10930455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10930456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10930457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11674590	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11696064	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs11899305	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11902369	0.87[CEU][hapmap]
rs12053543	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12477649	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs12612871	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12614580	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12618232	0.80[EUR][1000 genomes]
rs12618898	0.86[CEU][hapmap]
rs12624094	0.84[EUR][1000 genomes]
rs12692962	1.00[CHB][hapmap]
rs12988738	0.85[EUR][1000 genomes]
rs12997252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12998296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13002517	1.00[CHB][hapmap]
rs13003218	1.00[CHB][hapmap]
rs13004273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13008199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13010307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13016705	1.00[CHB][hapmap]
rs13025198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13026662	0.82[EUR][1000 genomes]
rs13030784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13034529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13395669	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13401706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13402107	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13403285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13410683	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13411575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13417709	0.82[ASN][1000 genomes]
rs13419444	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13425247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13427723	1.00[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13428613	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13430489	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13432813	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1344236	0.82[ASN][1000 genomes]
rs1344237	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1529378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1529391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859050	0.81[CEU][hapmap]
rs16859066	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859081	0.86[EUR][1000 genomes]
rs16859142	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17283147	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1962841	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1978592	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1991370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2010114	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2033160	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2059724	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2081715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2098999	0.82[CEU][hapmap]
rs2114595	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2114596	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2195072	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2195116	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2195117	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2217154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356593	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356597	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2356599	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356607	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2356608	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2555922	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2557794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2557799	0.85[EUR][1000 genomes]
rs2676131	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2676151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2723233	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2723241	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28740798	0.82[ASN][1000 genomes]
rs34004615	0.85[EUR][1000 genomes]
rs34518725	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34563349	0.94[ASN][1000 genomes]
rs34622740	0.82[ASN][1000 genomes]
rs34792013	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35047553	0.94[ASN][1000 genomes]
rs35112379	0.82[ASN][1000 genomes]
rs35173138	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35312173	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35900609	0.85[ASN][1000 genomes]
rs35988467	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36058634	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3731990	0.81[EUR][1000 genomes]
rs3731991	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3755121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755124	0.81[CEU][hapmap]
rs3755125	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3755126	0.81[CEU][hapmap]
rs3770423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770435	0.87[EUR][1000 genomes]
rs3770438	0.90[CEU][hapmap]
rs3770440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4564745	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667673	0.95[CEU][hapmap]
rs4668343	0.82[CEU][hapmap]
rs4668354	0.91[CEU][hapmap]
rs4668355	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4668368	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5028603	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55758155	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55987132	0.94[ASN][1000 genomes]
rs55996750	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56114146	0.85[ASN][1000 genomes]
rs56402728	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56405950	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6710035	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs6710714	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6711287	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6715332	0.85[EUR][1000 genomes]
rs6716127	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6719647	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6722537	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6730417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6732229	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6733178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6734542	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6734903	0.86[EUR][1000 genomes]
rs6742797	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6742854	0.83[EUR][1000 genomes]
rs6743201	0.86[EUR][1000 genomes]
rs6749427	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6750849	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6754315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758331	1.00[CHB][hapmap]
rs6761596	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761759	1.00[CHB][hapmap]
rs6761889	1.00[CHB][hapmap]
rs71415235	0.85[ASN][1000 genomes]
rs719548	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs73013441	0.82[ASN][1000 genomes]
rs731692	1.00[CHB][hapmap]
rs731693	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7421377	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7568083	0.82[ASN][1000 genomes]
rs7578491	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7579424	1.00[CHB][hapmap]
rs7580629	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7581195	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7581314	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7585418	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585619	0.82[ASN][1000 genomes]
rs7587244	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7593193	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7597940	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7600914	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7603316	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7603340	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7603460	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606502	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7606822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs930035	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs930036	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs958183	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs960222	0.84[EUR][1000 genomes]
rs964172	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs9646785	1.00[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13036123	TLK1	cis	uninvolved skin	skin_eQTL
rs13036123	TLK1	cis	lesional skin	skin_eQTL
rs13036123	TLK1	cis	normal skin	skin_eQTL
rs13036123	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
2	chr2:171916600-171970800	Weak transcription	Ovary	ovary
3	chr2:171917000-171953200	Weak transcription	HSMM	muscle
4	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:171929600-171956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:171933200-171954000	Weak transcription	Fetal Stomach	stomach
8	chr2:171933200-171954200	Weak transcription	Esophagus	oesophagus
9	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:171933800-171953200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:171934000-171955800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:171937600-171953600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:171937600-171956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:171938400-171953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:171938400-171953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:171941000-171954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:171941200-171954400	Weak transcription	NHEK	skin
18	chr2:171943400-171959600	Weak transcription	Left Ventricle	heart
19	chr2:171943400-171973800	Weak transcription	NH-A	brain
20	chr2:171943600-171954200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:171943600-171954400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:171943600-171956200	Weak transcription	Placenta	Placenta
23	chr2:171943800-171953400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:171944000-171953400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:171944000-171955000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:171944000-171955400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:171944600-171952400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:171944600-171954600	Weak transcription	K562	blood
29	chr2:171944800-171956600	Weak transcription	Thymus	Thymus
30	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:171946400-171953400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:171946400-171957000	Weak transcription	Pancreas	Pancrea
33	chr2:171946600-171953600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:171946800-171956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:171948200-171953400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:171948200-171954200	Weak transcription	Fetal Thymus	thymus
37	chr2:171948400-171952400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:171948600-171953400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:171948800-171953600	Weak transcription	Fetal Intestine Large	intestine
40	chr2:171948800-171955200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:171949000-171953600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:171949000-171954400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:171949200-171952600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:171949200-171973200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:171950600-171955200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:171950600-171955200	Weak transcription	Dnd41	blood
47	chr2:171950600-171972000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:171950800-171955200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:171951000-171956600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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