Variant report

Variant	rs2838331
Chromosome Location	chr21:45026728-45026729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45024840..45027309-chr21:45029580..45031203,2	MCF-7	breast:
2	chr21:45024177..45026924-chr21:45138314..45140711,3	MCF-7	breast:
3	chr21:45009805..45012198-chr21:45024361..45026780,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 180 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs1003280	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1041455	0.94[LWK][hapmap];0.91[YRI][hapmap]
rs1073522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11700909	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap]
rs11701518	0.87[CHB][hapmap]
rs11909064	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs12626757	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[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];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[ASN][1000 genomes]
rs1378080	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs141521	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs1454648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1454650	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]
rs1454651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1584917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1598206	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];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];0.90[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];0.88[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs162366	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs162367	0.86[CHB][hapmap];0.96[CHD][hapmap];0.90[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];0.93[ASN][1000 genomes]
rs162372	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162373	0.91[ASN][1000 genomes]
rs162374	0.93[ASN][1000 genomes]
rs162375	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162376	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162377	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.82[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];0.82[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];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs162391	0.92[ASN][1000 genomes]
rs162393	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162394	0.83[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];0.90[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs162399	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162400	0.87[ASW][hapmap];0.92[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];0.83[TSI][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162402	0.98[ASN][1000 genomes]
rs162403	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162404	0.96[ASN][1000 genomes]
rs167930	0.97[ASN][1000 genomes]
rs1836856	0.87[CHB][hapmap]
rs189094	0.95[ASN][1000 genomes]
rs2051407	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2070533	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2155722	0.85[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs2236666	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs2246602	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.87[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	0.85[EUR][1000 genomes]
rs229340	0.82[ASN][1000 genomes]
rs229357	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[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	0.87[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][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];0.85[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs230647	0.90[ASN][1000 genomes]
rs2329442	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329443	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2329593	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2838316	1.00[ASW][hapmap];0.92[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];0.88[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838317	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];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];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838320	0.87[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2838321	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2838322	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838323	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2838324	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838325	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs2838326	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs2838328	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838329	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838336	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs2838337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838338	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838339	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.87[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];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][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];0.87[TSI][hapmap]
rs2838348	0.81[CEU][hapmap];0.87[JPT][hapmap];0.84[TSI][hapmap]
rs2838350	0.87[JPT][hapmap]
rs2838351	0.87[JPT][hapmap]
rs2838353	0.81[JPT][hapmap]
rs2838354	0.81[JPT][hapmap]
rs28840140	0.94[ASN][1000 genomes]
rs35110281	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3788062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819161	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs389278	0.86[CHB][hapmap]
rs463738	0.90[ASN][1000 genomes]
rs4818833	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818843	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818850	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4818856	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818858	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs4818859	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4818860	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs4819212	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4819219	0.87[CHB][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs4819264	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819285	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs4819288	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs4819289	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4819291	0.84[CEU][hapmap]
rs4819295	0.81[JPT][hapmap]
rs4819296	0.81[JPT][hapmap]
rs4997353	0.93[ASN][1000 genomes]
rs58451308	0.81[ASN][1000 genomes]
rs6417729	0.84[AFR][1000 genomes]
rs6518301	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6518302	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]
rs6518309	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518310	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs7275705	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7276215	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7276316	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7276633	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap]
rs7277539	0.87[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7278003	0.85[AFR][1000 genomes]
rs7279958	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7283362	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs762400	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][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];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs86138	0.95[ASN][1000 genomes]
rs86139	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[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];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9306160	0.81[JPT][hapmap];0.82[TSI][hapmap]
rs969060	0.85[EUR][1000 genomes]
rs9974710	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9976441	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9976443	0.81[ASN][1000 genomes]
rs9977258	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9978403	0.91[YRI][hapmap]
rs9978811	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9978934	0.82[YRI][hapmap]
rs9979935	0.82[YRI][hapmap]
rs9980185	0.81[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9981291	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];0.92[MKK][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981790	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9983752	0.94[LWK][hapmap];0.87[YRI][hapmap]
rs9983763	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9984002	1.00[ASW][hapmap];0.88[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9984724	0.87[LWK][hapmap]

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	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
11	esv3449507	chr21:45022824-45026922	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2838331	HSF2BP	cis	multi-tissue	Pritchard
rs2838331	NCRNA00175	cis	parietal	SCAN
rs2838331	DNMT3L	cis	cerebellum	SCAN
rs2838331	HSF2BP	cis	lymphoblastoid	seeQTL
rs2838331	HSF2BP	cis	Lymphoblastoid	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
2	chr21:45020400-45028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:45021200-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:45021400-45027000	Enhancers	HSMMtube	muscle
5	chr21:45021400-45029400	Weak transcription	Fetal Brain Female	brain
6	chr21:45024000-45029400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:45024200-45027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:45024200-45028800	Weak transcription	Fetal Heart	heart
9	chr21:45024200-45029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:45024400-45027800	Weak transcription	Osteobl	bone
11	chr21:45024400-45029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:45024400-45030600	Enhancers	NHEK	skin
13	chr21:45024600-45027800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:45025000-45027000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:45025000-45027000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:45025000-45029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:45025000-45029000	Weak transcription	Fetal Lung	lung
18	chr21:45025000-45029400	Weak transcription	NHLF	lung
19	chr21:45025000-45029600	Weak transcription	Fetal Brain Male	brain
20	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:45025200-45029400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr21:45025200-45029400	Weak transcription	Pancreas	Pancrea
24	chr21:45025200-45029400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr21:45025400-45029400	Weak transcription	Esophagus	oesophagus
26	chr21:45025600-45029400	Weak transcription	Right Ventricle	heart
27	chr21:45025600-45030400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr21:45025800-45026800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:45025800-45026800	Enhancers	A549	lung
30	chr21:45025800-45026800	Enhancers	HUVEC	blood vessel
31	chr21:45025800-45029400	Weak transcription	Gastric	stomach
32	chr21:45025800-45029400	Weak transcription	Stomach Mucosa	stomach
33	chr21:45026000-45029400	Weak transcription	Brain Hippocampus Middle	brain
34	chr21:45026200-45026800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:45026200-45026800	Enhancers	NH-A	brain
36	chr21:45026200-45029400	Enhancers	HepG2	liver
37	chr21:45026200-45029600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr21:45026200-45032200	Enhancers	HMEC	breast
39	chr21:45026400-45029400	Weak transcription	Placenta	Placenta
40	chr21:45026400-45029400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr21:45026600-45027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:45026600-45027600	Weak transcription	HSMM	muscle
43	chr21:45026600-45028600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:45026600-45028800	Weak transcription	Adipose Nuclei	Adipose
45	chr21:45026600-45029000	Weak transcription	Colonic Mucosa	Colon
46	chr21:45026600-45029400	Weak transcription	Fetal Muscle Leg	muscle
47	chr21:45026600-45029400	Weak transcription	Fetal Stomach	stomach
48	chr21:45026600-45029400	Weak transcription	Left Ventricle	heart
49	chr21:45026600-45029400	Weak transcription	Lung	lung
50	chr21:45026600-45029400	Weak transcription	Placenta Amnion	Placenta Amnion

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