Variant report

Variant	rs11169351
Chromosome Location	chr12:50672214-50672215
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50665714..50669767-chr12:50671688..50676181,4	MCF-7	breast:
2	chr12:50663031..50666710-chr12:50669970..50672461,3	K562	blood:
3	chr12:50640226..50641774-chr12:50672197..50675094,2	K562	blood:
4	chr12:50666860..50670693-chr12:50671075..50676885,6	K562	blood:
5	chr12:50671138..50674964-chr12:50675618..50679032,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203433	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10467106	0.81[ASN][1000 genomes]
rs10506292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783349	0.91[EUR][1000 genomes]
rs10783350	0.89[EUR][1000 genomes]
rs10783353	0.86[ASN][1000 genomes]
rs10876013	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876015	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876016	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876018	0.89[EUR][1000 genomes]
rs10876023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10876024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10876028	0.87[ASN][1000 genomes]
rs11169314	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169315	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169317	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169319	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169332	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169335	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169339	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169345	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169347	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169348	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169349	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169359	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169367	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169369	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169371	0.90[EUR][1000 genomes]
rs11169373	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169374	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169375	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169376	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169377	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169379	0.89[EUR][1000 genomes]
rs11169386	0.88[EUR][1000 genomes]
rs11169390	0.87[ASN][1000 genomes]
rs11169391	0.86[ASN][1000 genomes]
rs11169395	0.86[ASN][1000 genomes]
rs11833608	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11836169	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11838347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12299669	0.82[ASN][1000 genomes]
rs12299758	0.86[ASN][1000 genomes]
rs12303082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs12312177	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12367872	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs12422417	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs12424691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424876	0.86[ASN][1000 genomes]
rs12425229	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12425705	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12426444	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12811291	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814094	0.87[ASN][1000 genomes]
rs12821454	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12821504	0.86[EUR][1000 genomes]
rs12823506	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12832940	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17124562	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1972611	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984993	0.86[ASN][1000 genomes]
rs2009072	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2111988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302900	0.96[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs2358539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28628775	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34039674	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34614542	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34825838	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34849043	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34858415	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34894919	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35209607	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35535298	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35663729	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35768991	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35878271	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35933908	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36017775	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3812825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3861100	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4348979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs4421818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs4768855	0.86[ASN][1000 genomes]
rs4768872	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768949	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768951	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs6580735	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580736	0.96[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs6580737	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580738	0.96[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs6580739	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580740	0.90[EUR][1000 genomes]
rs6580741	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6580743	0.84[ASN][1000 genomes]
rs67138019	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7134595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7135777	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138420	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs7138622	0.96[CEU][hapmap]
rs71465002	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295847	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7296291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7301186	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301189	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302363	0.87[ASN][1000 genomes]
rs7304445	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305995	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308095	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308885	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310541	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311378	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311491	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311973	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7314465	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7315690	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs7315871	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7315955	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7399343	0.89[EUR][1000 genomes]
rs7485486	0.90[EUR][1000 genomes]
rs7486747	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488682	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7489214	0.89[EUR][1000 genomes]
rs7953953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956468	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972824	0.83[ASN][1000 genomes]
rs7974648	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7979830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980911	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9668187	0.86[ASN][1000 genomes]
rs9705460	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9739363	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11169351	CERS5	cis	Nerve Tibial	GTEx
rs11169351	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs11169351	SLC38A1	cis	parietal	SCAN
rs11169351	LASS5	cis	cerebellum	SCAN
rs11169351	FAIM2	cis	cerebellum	SCAN
rs11169351	CELA1	cis	parietal	SCAN
rs11169351	LASS5	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50652200-50675800	Weak transcription	Fetal Stomach	stomach
2	chr12:50652400-50676200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:50652400-50676400	Weak transcription	HSMM	muscle
4	chr12:50661600-50672400	Genic enhancers	Fetal Intestine Small	intestine
5	chr12:50662200-50676400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:50665000-50676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:50665600-50675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:50665600-50676200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:50665800-50673400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:50665800-50676000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:50665800-50676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:50666000-50674800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:50666000-50675200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50666000-50676400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:50666000-50676400	Weak transcription	Ovary	ovary
16	chr12:50666200-50675600	Weak transcription	Fetal Lung	lung
17	chr12:50666200-50676400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:50666200-50676400	Weak transcription	Liver	Liver
19	chr12:50666400-50676400	Weak transcription	Right Ventricle	heart
20	chr12:50667600-50672400	Enhancers	Hela-S3	cervix
21	chr12:50667600-50674600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:50668200-50676200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:50668600-50676400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:50669800-50675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:50669800-50676400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:50669800-50676400	Weak transcription	HMEC	breast
27	chr12:50670000-50676600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:50670200-50675800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:50670200-50676200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:50670200-50676200	Weak transcription	Pancreas	Pancrea
31	chr12:50670200-50676400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:50670200-50676400	Weak transcription	NHEK	skin
33	chr12:50670400-50675400	Weak transcription	Adipose Nuclei	Adipose
34	chr12:50670600-50676400	Weak transcription	Lung	lung
35	chr12:50671000-50672400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:50671000-50676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:50671000-50676400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:50671400-50675200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:50671400-50676200	Weak transcription	Osteobl	bone
40	chr12:50671400-50676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:50671400-50676400	Weak transcription	K562	blood
42	chr12:50671600-50673200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:50671600-50673200	Weak transcription	Fetal Intestine Large	intestine
44	chr12:50671600-50674400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:50671600-50674600	Weak transcription	HepG2	liver
46	chr12:50671600-50675000	Weak transcription	Colonic Mucosa	Colon
47	chr12:50671600-50675000	Weak transcription	Stomach Mucosa	stomach
48	chr12:50671600-50675200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:50671600-50675400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:50671600-50675400	Weak transcription	NHDF-Ad	bronchial

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