Variant report

Variant	rs6518302
Chromosome Location	chr21:45018478-45018479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44958599..44960833-chr21:45017380..45019102,2	MCF-7	breast:
2	chr21:44930891..44933537-chr21:45017646..45020040,2	MCF-7	breast:
3	chr21:44929401..44931508-chr21:45015628..45019409,3	MCF-7	breast:
4	chr21:45018445..45020726-chr21:45029673..45031600,2	MCF-7	breast:
5	chr21:44989825..44992417-chr21:45017428..45020329,2	MCF-7	breast:

Extended variants
information (count: 180 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs1003280	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1041455	0.90[LWK][hapmap]
rs1073522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11700909	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs11701518	0.87[CHB][hapmap]
rs11701673	0.80[EUR][1000 genomes]
rs11909064	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs12165286	0.89[YRI][hapmap]
rs12626757	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12627667	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1378079	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378080	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs141521	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1454648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1454650	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1584917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1598206	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162343	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs162344	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.97[ASN][1000 genomes]
rs162345	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs162366	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.95[YRI][hapmap];0.94[ASN][1000 genomes]
rs162367	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs162368	0.94[ASN][1000 genomes]
rs162369	0.95[ASN][1000 genomes]
rs162371	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.93[ASN][1000 genomes]
rs162372	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162373	0.91[ASN][1000 genomes]
rs162374	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162375	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162376	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162377	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.95[YRI][hapmap];0.93[ASN][1000 genomes]
rs162378	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs162380	0.86[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.89[ASN][1000 genomes]
rs162381	0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs162388	1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs162389	0.94[ASN][1000 genomes]
rs162390	0.86[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.88[ASN][1000 genomes]
rs162391	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162393	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162394	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162395	0.94[ASN][1000 genomes]
rs162396	0.94[ASN][1000 genomes]
rs162398	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.94[ASN][1000 genomes]
rs162399	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162400	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162402	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162403	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162404	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs167930	0.97[ASN][1000 genomes]
rs1836856	0.87[CHB][hapmap]
rs189094	0.95[ASN][1000 genomes]
rs2051407	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2070533	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs2155722	0.85[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.84[TSI][hapmap]
rs2236666	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs2246602	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2250773	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs2251253	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs2282526	0.83[EUR][1000 genomes]
rs229340	0.82[ASN][1000 genomes]
rs229357	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298561	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs230640	0.86[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs230642	1.00[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.90[YRI][hapmap];0.90[ASN][1000 genomes]
rs230643	0.90[ASN][1000 genomes]
rs230644	0.83[ASN][1000 genomes]
rs230645	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs230646	0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs230647	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2329442	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329443	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2329593	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2838316	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838317	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2838318	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs2838319	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2838320	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2838321	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838322	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838323	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838324	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838325	0.92[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs2838326	0.92[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs2838328	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838329	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838331	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838336	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.81[ASN][1000 genomes]
rs2838337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838339	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838340	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs2838341	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[ASN][1000 genomes]
rs2838343	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2838344	0.85[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs2838348	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs2838350	0.87[JPT][hapmap]
rs2838351	0.87[JPT][hapmap]
rs2838353	0.81[JPT][hapmap]
rs2838354	0.81[JPT][hapmap]
rs28840140	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35110281	0.81[ASN][1000 genomes]
rs3788062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3819161	0.82[CHD][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap]
rs389278	0.86[CHB][hapmap]
rs463738	0.90[ASN][1000 genomes]
rs4818833	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818843	0.99[ASN][1000 genomes]
rs4818850	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818856	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818858	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs4818859	0.84[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs4818860	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs4819212	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4819219	0.87[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4819264	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819285	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs4819288	0.81[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs4819289	0.84[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs4819291	0.84[CEU][hapmap]
rs4819295	0.81[JPT][hapmap]
rs4819296	0.81[JPT][hapmap]
rs4997353	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451308	0.81[ASN][1000 genomes]
rs6417729	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6518301	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518309	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518310	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs7275705	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7276215	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7276316	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7276633	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap]
rs7277539	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7278003	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7279958	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279959	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7279968	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7282122	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs7282933	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7283362	0.87[CHB][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap]
rs762400	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs8129601	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs8131005	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs8131020	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs8131027	0.81[CEU][hapmap]
rs8133523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs86138	0.95[ASN][1000 genomes]
rs86139	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.95[ASN][1000 genomes]
rs91424	0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs9306159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9306160	0.81[JPT][hapmap]
rs969060	0.83[EUR][1000 genomes]
rs9974710	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9976441	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9976443	0.81[ASN][1000 genomes]
rs9977258	0.83[AFR][1000 genomes]
rs9978811	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9978934	0.95[YRI][hapmap]
rs9979935	0.95[YRI][hapmap]
rs9980185	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9981291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981790	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983752	0.97[LWK][hapmap];1.00[YRI][hapmap]
rs9983763	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9984002	0.87[ASW][hapmap];0.88[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9984724	0.84[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6518302	HSF2BP	cis	lymphoblastoid	seeQTL
rs6518302	TRAPPC10	cis	lymphoblastoid	seeQTL
rs6518302	COL18A1	cis	cerebellum	SCAN
rs6518302	NCRNA00175	cis	parietal	SCAN
rs6518302	DNMT3L	cis	cerebellum	SCAN
rs6518302	HSF2BP	cis	multi-tissue	Pritchard
rs6518302	HSF2BP	cis	Lymphoblastoid	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
3	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:45008000-45020000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:45009200-45020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45013200-45022200	Weak transcription	Adipose Nuclei	Adipose
7	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:45014800-45018600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:45015800-45018600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr21:45015800-45019600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:45016200-45019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:45016200-45021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:45016200-45025000	Enhancers	HMEC	breast
14	chr21:45016400-45019400	Enhancers	Hela-S3	cervix
15	chr21:45016400-45020800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:45016400-45021800	Enhancers	NH-A	brain
17	chr21:45016400-45022600	Enhancers	NHLF	lung
18	chr21:45016400-45024200	Enhancers	HSMM	muscle
19	chr21:45016400-45024400	Enhancers	Osteobl	bone
20	chr21:45016400-45026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:45016600-45018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:45017200-45018800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:45017200-45024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
25	chr21:45017600-45024200	Enhancers	NHEK	skin
26	chr21:45017800-45021800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:45018000-45024400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:45018200-45020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:45018400-45018800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:45018400-45019000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:45018400-45019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:45018400-45019400	Flanking Active TSS	A549	lung
33	chr21:45018400-45019400	Enhancers	NHDF-Ad	bronchial
34	chr21:45018400-45020000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:45018400-45020200	Enhancers	Primary B cells from peripheral blood	blood
36	chr21:45018400-45020800	Enhancers	HSMMtube	muscle
37	chr21:45018400-45024600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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