Variant report

Variant	rs1454650
Chromosome Location	chr21:45012353-45012354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45009002..45010777-chr21:45012322..45015195,2	MCF-7	breast:
2	chr21:44922115..44924476-chr21:45011241..45014029,2	MCF-7	breast:
3	chr21:44934887..44937881-chr21:45009259..45012818,3	MCF-7	breast:
4	chr21:44846436..44848251-chr21:45011064..45014030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 173 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1003280	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1073522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11700909	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs11701518	0.87[CHB][hapmap]
rs11909064	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs12626757	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627667	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[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];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378080	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[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];0.97[ASN][1000 genomes]
rs1454648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1454651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1584917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1584918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162343	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[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];0.96[ASN][1000 genomes]
rs162345	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs162366	0.93[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.93[ASN][1000 genomes]
rs162367	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs162368	0.93[ASN][1000 genomes]
rs162369	0.94[ASN][1000 genomes]
rs162371	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs162372	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162373	0.90[ASN][1000 genomes]
rs162374	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162375	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162376	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162377	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs162378	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs162380	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs162381	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs162388	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs162389	0.93[ASN][1000 genomes]
rs162390	0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs162391	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162393	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162394	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162395	0.93[ASN][1000 genomes]
rs162396	0.93[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];0.93[ASN][1000 genomes]
rs162399	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162400	0.93[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162402	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162403	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162404	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs167930	0.96[ASN][1000 genomes]
rs1836856	0.87[CHB][hapmap]
rs189094	0.94[ASN][1000 genomes]
rs2051407	0.87[EUR][1000 genomes];0.80[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];0.83[ASN][1000 genomes]
rs2250773	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs2251253	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs2282526	0.82[EUR][1000 genomes]
rs229340	0.81[ASN][1000 genomes]
rs229357	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298561	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs230640	0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs230642	0.93[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs230643	0.89[ASN][1000 genomes]
rs230644	0.82[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];0.89[ASN][1000 genomes]
rs230647	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2329442	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];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329443	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2329593	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2838316	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838317	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[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];0.98[ASN][1000 genomes]
rs2838320	0.93[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2838321	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838322	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838323	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838324	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838325	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[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];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838329	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838331	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[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];0.80[ASN][1000 genomes]
rs2838337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838338	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2838339	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
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];0.80[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];0.93[ASN][1000 genomes]
rs35110281	0.80[ASN][1000 genomes]
rs3788062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3819161	0.82[CHD][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap]
rs389278	0.86[CHB][hapmap]
rs463738	0.89[ASN][1000 genomes]
rs4818833	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818843	0.98[ASN][1000 genomes]
rs4818850	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818856	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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]
rs4819264	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58451308	0.80[ASN][1000 genomes]
rs6417729	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6518301	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6518302	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]
rs6518309	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518310	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs7275705	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7276215	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7276316	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7278003	0.83[EUR][1000 genomes]
rs7279958	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[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]
rs7282122	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs7282933	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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];0.85[EUR][1000 genomes]
rs86138	0.94[ASN][1000 genomes]
rs86139	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs91424	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs9306159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9306160	0.81[JPT][hapmap]
rs969060	0.82[EUR][1000 genomes]
rs9974710	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9976441	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9976443	0.80[ASN][1000 genomes]
rs9978811	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9980185	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981291	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];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9981790	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
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];0.98[ASN][1000 genomes]
rs9984002	0.81[ASW][hapmap];0.88[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	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
11	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
rs1454650	HSF2BP	cis	multi-tissue	Pritchard
rs1454650	DNMT3L	cis	cerebellum	SCAN
rs1454650	COL18A1	cis	cerebellum	SCAN
rs1454650	HSF2BP	cis	Lymphoblastoid	GTEx
rs1454650	TRAPPC10	cis	lymphoblastoid	seeQTL
rs1454650	NCRNA00175	cis	parietal	SCAN
rs1454650	HSF2BP	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45004600-45014200	Enhancers	HepG2	liver
3	chr21:45006000-45012600	Weak transcription	Ovary	ovary
4	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
5	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:45006400-45013400	Enhancers	Hela-S3	cervix
7	chr21:45006600-45015200	Enhancers	A549	lung
8	chr21:45006800-45012800	Weak transcription	Adipose Nuclei	Adipose
9	chr21:45007000-45016400	Weak transcription	NHLF	lung
10	chr21:45008000-45020000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:45009000-45012800	Enhancers	HSMMtube	muscle
12	chr21:45009200-45020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:45009600-45016200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr21:45010400-45012400	Weak transcription	Fetal Intestine Large	intestine
15	chr21:45010800-45015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:45010800-45015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:45010800-45016200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:45010800-45016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:45010800-45016400	Weak transcription	NHEK	skin
20	chr21:45011200-45012600	Genic enhancers	HSMM	muscle
21	chr21:45011200-45012800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45011200-45012800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:45011600-45013200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:45011800-45012400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:45011800-45012600	Weak transcription	Fetal Intestine Small	intestine
26	chr21:45011800-45016200	Weak transcription	HMEC	breast
27	chr21:45012000-45012800	Enhancers	Fetal Muscle Leg	muscle
28	chr21:45012000-45013000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:45012000-45016400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:45012200-45012800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr21:45012200-45016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:45012200-45016400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:45012200-45016400	Weak transcription	Osteobl	bone

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