Variant report

Variant	rs16847647
Chromosome Location	chr1:227502076-227502077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227500962..227504758-chr1:227504964..227507747,3	MCF-7	breast:
2	chr1:227490028..227493033-chr1:227499168..227502183,4	K562	blood:
3	chr1:227491263..227493925-chr1:227500068..227502093,2	MCF-7	breast:
4	chr1:227486302..227488328-chr1:227502025..227504666,2	K562	blood:
5	chr1:227500261..227502142-chr1:227623311..227626021,2	K562	blood:
6	chr1:227487011..227489287-chr1:227501111..227503917,2	MCF-7	breast:
7	chr1:227500332..227503244-chr1:227542452..227546426,3	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 266 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:260)

rs_ID	r²[population]
rs10495251	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10495252	0.88[ASN][1000 genomes]
rs10495254	0.99[ASN][1000 genomes]
rs10799398	0.82[AMR][1000 genomes]
rs10799401	0.82[AMR][1000 genomes]
rs10799402	0.82[AMR][1000 genomes]
rs10799406	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10916115	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11799960	0.88[ASN][1000 genomes]
rs11800390	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11800982	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11801500	0.88[ASN][1000 genomes]
rs11801885	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11802394	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11803664	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11804613	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11804709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805097	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11805221	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11805679	0.88[ASN][1000 genomes]
rs11805859	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11806180	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806482	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11807620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811972	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11812018	0.80[ASN][1000 genomes]
rs12143378	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12402087	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12407020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407033	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409411	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12410073	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12410267	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1398860	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1398861	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1398862	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1513604	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1513606	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1513608	0.82[AMR][1000 genomes]
rs1513611	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1513612	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1513614	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1513616	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1513618	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1513620	0.82[AMR][1000 genomes]
rs1513622	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1533283	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1588716	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16847571	0.87[ASN][1000 genomes]
rs16847574	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847582	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16847612	0.99[ASN][1000 genomes]
rs16847617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16847618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16847625	0.99[ASN][1000 genomes]
rs16847628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847643	1.00[ASN][1000 genomes]
rs16847649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849549	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1849551	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1849552	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1877618	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1877621	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1913345	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1969230	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2063663	0.82[AMR][1000 genomes]
rs2063665	0.82[AMR][1000 genomes]
rs2063668	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2090006	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2102635	0.82[ASN][1000 genomes]
rs2102636	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2102637	0.82[ASN][1000 genomes]
rs2203278	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2313436	0.82[AMR][1000 genomes]
rs2670440	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670441	0.91[AMR][1000 genomes]
rs2670444	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670445	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2670452	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670453	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670457	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2670460	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670463	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670465	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2670467	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2670469	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718194	0.81[AMR][1000 genomes]
rs2718196	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718201	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718207	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2718209	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2718210	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2718211	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2718215	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2718217	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718219	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718225	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813945	0.82[ASN][1000 genomes]
rs2813946	0.83[ASN][1000 genomes]
rs2813949	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2813953	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813958	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813960	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813961	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2813962	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2813964	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2813968	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2813974	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2813976	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813978	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2813980	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2872312	0.82[AMR][1000 genomes]
rs3106474	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3106477	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3127001	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3127002	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3127003	0.80[AFR][1000 genomes]
rs3768435	0.82[AMR][1000 genomes]
rs3795455	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3795456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233223	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4266849	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4276876	0.99[ASN][1000 genomes]
rs4281297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4284230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4292922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4298700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4306096	0.88[ASN][1000 genomes]
rs4322202	0.82[AMR][1000 genomes]
rs4338327	0.81[AMR][1000 genomes]
rs4344297	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4415529	0.98[ASN][1000 genomes]
rs4500280	0.98[ASN][1000 genomes]
rs4525011	0.82[AMR][1000 genomes]
rs4545305	0.86[ASN][1000 genomes]
rs4568795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4630094	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653486	0.82[AMR][1000 genomes]
rs4653488	0.88[ASN][1000 genomes]
rs4653490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653492	0.96[ASN][1000 genomes]
rs4653493	0.94[ASN][1000 genomes]
rs4653494	0.94[ASN][1000 genomes]
rs4653802	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4653803	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4653804	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4653805	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4653806	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4653807	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4653808	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653814	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653816	0.98[ASN][1000 genomes]
rs4653817	0.98[ASN][1000 genomes]
rs4653818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56703671	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56830706	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58442442	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58912604	0.93[ASN][1000 genomes]
rs59187211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59472079	0.91[ASN][1000 genomes]
rs59562576	0.95[ASN][1000 genomes]
rs59596249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59981133	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60115015	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60117206	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60585433	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60592061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693965	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6426582	0.82[AMR][1000 genomes]
rs6426585	0.82[AMR][1000 genomes]
rs6426586	0.82[AMR][1000 genomes]
rs6426588	0.82[AMR][1000 genomes]
rs6426590	0.81[AMR][1000 genomes]
rs6426592	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6426593	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6426594	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6426595	0.82[EUR][1000 genomes]
rs66475802	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66496813	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66523880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659322	0.82[AMR][1000 genomes]
rs6669745	0.82[AMR][1000 genomes]
rs6670934	0.82[AMR][1000 genomes]
rs66738032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675680	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66765246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6684840	0.82[AMR][1000 genomes]
rs6685492	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6690326	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6690668	0.82[AMR][1000 genomes]
rs6691882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6693234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695072	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6695923	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6696485	0.82[AMR][1000 genomes]
rs6697372	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6703900	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67070254	0.96[ASN][1000 genomes]
rs67316436	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67343460	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67400293	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67715027	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67723257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68043093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68077109	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68133756	0.93[ASN][1000 genomes]
rs72632804	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72632805	0.84[ASN][1000 genomes]
rs72632806	0.84[ASN][1000 genomes]
rs72632807	0.86[ASN][1000 genomes]
rs72632809	0.88[ASN][1000 genomes]
rs72632810	0.88[ASN][1000 genomes]
rs72632811	0.88[ASN][1000 genomes]
rs72632812	0.88[ASN][1000 genomes]
rs72632813	0.87[ASN][1000 genomes]
rs72632814	0.88[ASN][1000 genomes]
rs72632815	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72632816	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72632818	0.99[ASN][1000 genomes]
rs72632819	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72632820	0.98[ASN][1000 genomes]
rs72632821	0.99[ASN][1000 genomes]
rs72632822	0.99[ASN][1000 genomes]
rs72632823	1.00[ASN][1000 genomes]
rs72632824	1.00[ASN][1000 genomes]
rs72632825	1.00[ASN][1000 genomes]
rs7367212	0.81[AMR][1000 genomes]
rs7513776	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7519121	0.80[AFR][1000 genomes]
rs7519849	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7520769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523176	0.82[AMR][1000 genomes]
rs7530080	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7530644	0.82[AMR][1000 genomes]
rs7535381	0.82[AMR][1000 genomes]
rs7539423	0.82[AMR][1000 genomes]
rs7539540	0.82[AMR][1000 genomes]
rs7540775	0.99[ASN][1000 genomes]
rs7541220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546181	0.82[AMR][1000 genomes]
rs7546494	0.82[AMR][1000 genomes]
rs7549515	1.00[ASN][1000 genomes]
rs7549619	1.00[ASN][1000 genomes]
rs7550555	0.82[AMR][1000 genomes]
rs7552957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556319	0.97[ASN][1000 genomes]
rs9426555	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9426556	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9426617	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9426619	0.83[ASN][1000 genomes]
rs9426620	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227469200-227502600	Weak transcription	HSMM	muscle
2	chr1:227487600-227502400	Weak transcription	Osteobl	bone
3	chr1:227490200-227503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:227492600-227503400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:227495000-227503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:227496200-227504800	Weak transcription	Gastric	stomach
7	chr1:227497200-227502600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:227498200-227503000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:227498200-227503200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:227499200-227502400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:227499400-227503800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:227500000-227502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:227500600-227502200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:227500600-227503200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:227500600-227503200	Weak transcription	Placenta	Placenta
16	chr1:227500600-227503200	Weak transcription	Right Ventricle	heart
17	chr1:227500600-227503400	Weak transcription	Ovary	ovary
18	chr1:227500600-227503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:227500600-227504800	Weak transcription	Lung	lung
20	chr1:227500800-227502200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:227500800-227502200	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:227500800-227503200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:227500800-227503600	Weak transcription	Left Ventricle	heart
24	chr1:227500800-227504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:227500800-227504600	Weak transcription	Pancreas	Pancrea
26	chr1:227500800-227506600	Active TSS	K562	blood
27	chr1:227501200-227502200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:227501200-227502600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:227501200-227503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:227501400-227502800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:227501400-227503200	Weak transcription	Stomach Mucosa	stomach
32	chr1:227501400-227506800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:227501400-227507000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:227501600-227507000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:227501800-227502400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:227501800-227503200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:227501800-227503200	Active TSS	Adipose Nuclei	Adipose
38	chr1:227501800-227503400	Active TSS	Fetal Brain Female	brain
39	chr1:227501800-227505400	Active TSS	Right Atrium	heart
40	chr1:227501800-227505600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:227501800-227505800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:227501800-227506600	Active TSS	Fetal Stomach	stomach
43	chr1:227501800-227506600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:227501800-227506600	Active TSS	HMEC	breast
45	chr1:227501800-227506600	Active TSS	NHEK	skin
46	chr1:227501800-227506800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:227501800-227506800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:227501800-227506800	Active TSS	Brain Anterior Caudate	brain
49	chr1:227501800-227506800	Active TSS	A549	lung
50	chr1:227501800-227506800	Active TSS	NHLF	lung

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