Variant report

Variant	rs12941039
Chromosome Location	chr17:17765655-17765656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17724980..17727565-chr17:17764878..17766852,2	MCF-7	breast:
2	chr17:17736515..17741954-chr17:17762022..17766066,6	MCF-7	breast:
3	chr17:17718795..17722918-chr17:17762335..17765871,4	K562	blood:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 173 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10048206	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs1052299	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078399	0.81[EUR][1000 genomes]
rs11078400	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078403	0.82[EUR][1000 genomes]
rs11078405	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11078406	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs11078407	0.81[EUR][1000 genomes]
rs11078408	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs1108648	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11650649	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650890	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652144	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11652881	0.82[JPT][hapmap];0.88[MEX][hapmap]
rs11656665	0.82[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs11656840	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs11657074	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657130	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11657423	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11658309	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11869536	0.81[EUR][1000 genomes]
rs11870660	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs11871899	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12450799	0.83[AMR][1000 genomes]
rs12452219	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12452254	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12600546	0.91[CEU][hapmap]
rs12936037	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12938501	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12943500	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12946746	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12952723	0.86[EUR][1000 genomes]
rs12953299	1.00[CHB][hapmap]
rs16960744	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1889014	0.89[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889018	0.93[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236513	0.90[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2350976	0.82[JPT][hapmap];0.88[MEX][hapmap]
rs2350977	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28428991	0.81[EUR][1000 genomes]
rs2955354	0.81[CEU][hapmap]
rs2955355	0.84[MEX][hapmap]
rs2955356	0.84[MEX][hapmap]
rs2955358	0.84[MEX][hapmap]
rs2955359	0.84[MEX][hapmap]
rs2955378	0.84[MEX][hapmap]
rs2955380	0.84[MEX][hapmap]
rs2955381	0.84[CEU][hapmap]
rs2955382	0.91[CEU][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs2955383	0.84[MEX][hapmap]
rs2955384	0.84[MEX][hapmap]
rs2955385	0.84[MEX][hapmap]
rs3183702	0.95[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35451946	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3744113	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3744115	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3818717	0.82[JPT][hapmap]
rs4077198	0.81[EUR][1000 genomes]
rs4077828	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4244602	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4257260	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs4299203	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs4341796	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4368210	0.84[MEX][hapmap]
rs4413022	0.91[CEU][hapmap]
rs4459604	0.88[MEX][hapmap]
rs4470201	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs4534911	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4553680	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4584886	0.83[MEX][hapmap]
rs4924821	0.86[AMR][1000 genomes]
rs4924822	0.91[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs4924823	1.00[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4924832	0.84[MEX][hapmap]
rs4925115	0.82[CEU][hapmap]
rs4925116	0.86[EUR][1000 genomes]
rs4925119	0.81[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs4925120	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4925123	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925125	0.87[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4925126	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs4925129	0.81[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925130	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5002487	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56248913	0.80[AMR][1000 genomes]
rs62064156	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62072049	0.87[EUR][1000 genomes]
rs6502618	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6502619	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502622	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6502624	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6502625	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6502626	0.80[EUR][1000 genomes]
rs6502627	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs6502629	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs6502632	0.84[MEX][hapmap]
rs66531105	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67253360	0.81[EUR][1000 genomes]
rs7207395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7209003	0.81[CEU][hapmap]
rs7212167	0.84[MEX][hapmap]
rs7213225	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs7214002	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7214536	0.80[EUR][1000 genomes]
rs7219320	0.84[MEX][hapmap]
rs7222480	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7224815	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7359509	0.93[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7406982	0.84[MEX][hapmap]
rs7501812	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7503334	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7503747	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8065416	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs8065497	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8065563	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066560	0.86[CEU][hapmap];0.85[GIH][hapmap];0.84[EUR][1000 genomes]
rs8066982	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs8068175	0.84[GIH][hapmap];0.80[MEX][hapmap]
rs8070128	0.81[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8070624	0.87[ASN][1000 genomes]
rs8070722	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8070748	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs8073001	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs8077338	0.91[ASN][1000 genomes]
rs8078105	0.90[CEU][hapmap];0.92[MEX][hapmap]
rs8078138	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8078583	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8078756	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8079321	1.00[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8080061	1.00[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8080823	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs950966	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9890341	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs9891957	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9893690	0.88[EUR][1000 genomes]
rs9895335	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9895750	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897761	0.81[CEU][hapmap]
rs9899634	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9902941	0.86[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9904163	0.81[EUR][1000 genomes]
rs9906673	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9907246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9907287	1.00[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9908017	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9908299	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911281	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9912895	0.91[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs9913277	0.88[MEX][hapmap]
rs9915248	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9915776	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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	77 gene(s)	inside rSNPs	diseases
12	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
13	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
14	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
15	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
16	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
18	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
19	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
20	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12941039	TOM1L2	cis	parietal	SCAN
rs12941039	SREBF1	cis	Whole Blood	GTEx
rs12941039	TOM1L2	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17744400-17771400	Weak transcription	Fetal Brain Male	brain
2	chr17:17745200-17770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:17751600-17771600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:17754000-17772000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:17754200-17769400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr17:17754200-17771000	Weak transcription	NH-A	brain
7	chr17:17754400-17769400	Weak transcription	Fetal Brain Female	brain
8	chr17:17754600-17769600	Weak transcription	Thymus	Thymus
9	chr17:17754800-17769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17756000-17770800	Weak transcription	Primary B cells from cord blood	blood
11	chr17:17756200-17769600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:17756800-17771200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:17756800-17789600	Weak transcription	Small Intestine	intestine
14	chr17:17758600-17769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:17758800-17769600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:17758800-17780200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:17760000-17775800	Weak transcription	Psoas Muscle	Psoas
18	chr17:17760200-17766400	Weak transcription	HMEC	breast
19	chr17:17760200-17769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:17760200-17769600	Weak transcription	NHDF-Ad	bronchial
21	chr17:17761600-17771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:17761600-17771400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:17762600-17766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:17762600-17767400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:17762800-17767200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:17763400-17765800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr17:17763600-17768200	Strong transcription	Fetal Intestine Small	intestine
28	chr17:17763600-17769600	Weak transcription	Pancreas	Pancrea
29	chr17:17763800-17765800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:17763800-17765800	Strong transcription	Rectal Smooth Muscle	rectum
31	chr17:17763800-17766000	Strong transcription	Colon Smooth Muscle	Colon
32	chr17:17763800-17766200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:17763800-17766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:17763800-17766600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:17763800-17766600	Strong transcription	HSMM	muscle
36	chr17:17763800-17771800	Weak transcription	Fetal Kidney	kidney
37	chr17:17764000-17765800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:17764000-17765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:17764000-17765800	Weak transcription	Liver	Liver
40	chr17:17764000-17766200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:17764000-17766200	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr17:17764000-17766400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:17764000-17766600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:17764000-17766800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:17764000-17767400	Strong transcription	Esophagus	oesophagus
46	chr17:17764000-17769400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr17:17764000-17769600	Weak transcription	Brain Substantia Nigra	brain
48	chr17:17764000-17769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:17764000-17771200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:17764000-17771200	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links