Variant report

Variant	rs7309671
Chromosome Location	chr12:118750993-118750994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118750220..118752210-chr12:118752581..118754741,2	K562	blood:
2	chr12:118749913..118751885-chr12:118794829..118796895,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:195)

rs_ID	r²[population]
rs10507286	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1060964	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10850967	1.00[CEU][hapmap]
rs11068891	0.93[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs11068906	0.90[EUR][1000 genomes]
rs11068908	0.93[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs11068910	0.84[EUR][1000 genomes]
rs11068917	0.93[CEU][hapmap];0.81[TSI][hapmap]
rs11068919	1.00[CEU][hapmap]
rs12229607	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs12308475	0.83[EUR][1000 genomes]
rs12820035	1.00[CHB][hapmap]
rs16948193	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16948197	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16948204	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16948230	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16948234	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948250	1.00[CEU][hapmap]
rs17433217	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17440315	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap]
rs17440336	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17440364	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17440433	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17440669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440823	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17440942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17440956	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap]
rs17441033	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes]
rs17441047	0.82[AFR][1000 genomes]
rs17441061	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17441075	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes]
rs17441172	0.91[AFR][1000 genomes]
rs17441251	0.91[AFR][1000 genomes]
rs17512142	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs17512177	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17512198	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17512219	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17512407	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512483	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512574	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512609	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17512644	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17512652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17512763	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17513006	0.91[AFR][1000 genomes]
rs17513013	0.91[AFR][1000 genomes]
rs17586342	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs17619932	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs1909617	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2055534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2062519	1.00[CEU][hapmap]
rs2280711	0.85[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2393403	0.91[AFR][1000 genomes]
rs2393415	0.91[AFR][1000 genomes]
rs2393416	0.91[AFR][1000 genomes]
rs2784	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852531	0.91[AFR][1000 genomes]
rs3852532	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4406856	0.91[AFR][1000 genomes]
rs4457791	0.91[AFR][1000 genomes]
rs4766899	1.00[CEU][hapmap]
rs4766900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs4767669	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4767670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4767671	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4767672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs507517	1.00[CHB][hapmap]
rs55833534	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	0.91[AFR][1000 genomes]
rs56033674	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56133316	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56157623	0.82[EUR][1000 genomes]
rs56284927	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56347775	0.91[AFR][1000 genomes]
rs56708462	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58113338	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58884645	0.85[EUR][1000 genomes]
rs61943362	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943364	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943365	0.87[EUR][1000 genomes]
rs61943367	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943368	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943385	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943388	0.82[EUR][1000 genomes]
rs61943389	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943391	0.81[EUR][1000 genomes]
rs61943392	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943393	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943397	0.82[EUR][1000 genomes]
rs61943399	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943400	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943401	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943402	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943403	0.82[EUR][1000 genomes]
rs61943404	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61943406	0.82[AFR][1000 genomes]
rs61943443	0.82[AFR][1000 genomes]
rs61943444	0.91[AFR][1000 genomes]
rs61943447	0.91[AFR][1000 genomes]
rs61943451	0.91[AFR][1000 genomes]
rs61943452	0.91[AFR][1000 genomes]
rs61943454	0.91[AFR][1000 genomes]
rs61943455	0.91[AFR][1000 genomes]
rs61943456	0.91[AFR][1000 genomes]
rs61943457	0.91[AFR][1000 genomes]
rs61943535	0.82[EUR][1000 genomes]
rs61943537	0.80[EUR][1000 genomes]
rs61943538	0.82[EUR][1000 genomes]
rs61945175	0.82[EUR][1000 genomes]
rs61945176	0.82[EUR][1000 genomes]
rs61945177	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61945180	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61945181	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61945182	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945183	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945184	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945187	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945188	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945189	0.91[AFR][1000 genomes]
rs61945190	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61945192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945206	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945207	0.81[EUR][1000 genomes]
rs61945210	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61945212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945216	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945217	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61945218	0.91[EUR][1000 genomes]
rs61945219	0.85[EUR][1000 genomes]
rs61945220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945223	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945224	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945225	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945226	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945228	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946063	0.83[EUR][1000 genomes]
rs61946064	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490173	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs6490175	0.81[EUR][1000 genomes]
rs6490177	1.00[CEU][hapmap]
rs673078	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7132753	0.91[AFR][1000 genomes]
rs7136216	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs7136676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes]
rs7137055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7137184	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7294498	1.00[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs7295288	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7299040	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7302387	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303417	0.92[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7304342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs7305647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes]
rs7307393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309484	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7312555	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap]
rs7314987	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73205512	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73205526	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73205531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205551	0.84[EUR][1000 genomes]
rs73205553	1.00[ASN][1000 genomes]
rs73205576	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73205594	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73207504	0.91[AFR][1000 genomes]
rs73207564	0.91[AFR][1000 genomes]
rs73207566	0.91[AFR][1000 genomes]
rs73222058	0.85[EUR][1000 genomes]
rs7954330	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7957828	0.83[EUR][1000 genomes]
rs7958551	0.91[AFR][1000 genomes]
rs7958652	0.91[AFR][1000 genomes]
rs7960802	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7961312	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962185	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963353	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7963464	0.85[EUR][1000 genomes]
rs7965350	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7967900	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7968011	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7970481	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7973455	0.91[AMR][1000 genomes]
rs7974718	0.85[EUR][1000 genomes]
rs7977403	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs884844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs950288	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs965524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes]
rs9669004	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943819	0.93[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7309671	SUDS3	cis	cerebellum	SCAN
rs7309671	SUDS3	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
4	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:118745600-118751800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:118746400-118754800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:118746600-118751400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:118746600-118752600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:118746600-118756000	Weak transcription	HUVEC	blood vessel
15	chr12:118746600-118766600	Weak transcription	HSMM	muscle
16	chr12:118746800-118751800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:118747000-118751600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:118747000-118754400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:118747000-118759200	Weak transcription	Lung	lung
20	chr12:118747400-118751600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:118748000-118756400	Weak transcription	K562	blood
22	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:118748800-118751000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:118748800-118753200	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:118749200-118751800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:118749200-118754000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:118749200-118765800	Weak transcription	Psoas Muscle	Psoas
28	chr12:118749600-118751000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:118749600-118751000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:118749600-118751000	Enhancers	NHEK	skin
31	chr12:118749600-118752800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:118749600-118753800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:118749800-118751000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:118750000-118751000	Enhancers	Liver	Liver
35	chr12:118750200-118751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:118750200-118751000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr12:118750200-118752800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:118750400-118751000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:118750600-118752800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr12:118750600-118753600	Weak transcription	NHLF	lung
41	chr12:118750600-118754200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:118750600-118754600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:118750600-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:118750800-118751400	Active TSS	GM12878-XiMat	blood
45	chr12:118750800-118753400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:118750800-118753400	Weak transcription	Osteobl	bone
47	chr12:118750800-118753600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:118750800-118753600	Weak transcription	NHDF-Ad	bronchial
49	chr12:118750800-118754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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