Variant report

Variant	rs2955359
Chromosome Location	chr17:17946730-17946731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:17946720-17947246	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr17:17946700-17946850	HRE	kidney:	n/a	n/a
3	RAD21	chr17:17946661-17947211	HCT-116	colon:	n/a	n/a
4	GATA1	chr17:17946110-17947095	PBDE	blood:	n/a	chr17:17947076-17947083

No.	Distal block	Cell Line	Cell type
1	chr17:17820370..17822488-chr17:17946052..17948620,2	K562	blood:
2	chr17:17740231..17742175-chr17:17944885..17946764,2	MCF-7	breast:
3	chr17:17942253..17945044-chr17:17945539..17948205,4	MCF-7	breast:

Variant related genes	Relation type
ATPAF2	TF binding region
ENSG00000141034	Chromatin interaction
ENSG00000171953	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:175)

rs_ID	r²[population]
rs10048206	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs1008135	0.83[EUR][1000 genomes]
rs1052299	0.88[MEX][hapmap]
rs1101727	0.83[EUR][1000 genomes]
rs11078400	0.87[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs11078406	0.88[ASW][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap]
rs11078408	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11078409	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11078410	0.81[EUR][1000 genomes]
rs11650021	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11650649	0.84[MEX][hapmap]
rs11658257	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11869491	0.86[EUR][1000 genomes]
rs11870660	0.90[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs11871231	0.87[EUR][1000 genomes]
rs12150369	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12600546	0.92[JPT][hapmap]
rs12603148	0.81[AFR][1000 genomes]
rs12939020	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12940282	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12941039	0.84[MEX][hapmap]
rs12948749	0.83[EUR][1000 genomes]
rs16960744	0.92[MEX][hapmap]
rs2056842	0.82[EUR][1000 genomes]
rs2236513	0.88[YRI][hapmap]
rs2350977	0.92[MEX][hapmap]
rs28537385	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28555361	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2955350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955352	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955353	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955355	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955356	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955357	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955358	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955365	0.81[CEU][hapmap];0.85[GIH][hapmap];0.83[EUR][1000 genomes]
rs2955366	0.83[EUR][1000 genomes]
rs2955368	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955369	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2955370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955371	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2955372	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955373	0.84[AMR][1000 genomes]
rs2955377	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955383	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955384	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955385	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2974998	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2974999	0.95[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3183702	0.88[MEX][hapmap];0.86[MKK][hapmap];0.84[YRI][hapmap]
rs3744115	0.88[MEX][hapmap]
rs3935505	0.97[ASN][1000 genomes]
rs3935506	0.97[ASN][1000 genomes]
rs4072738	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4072739	0.95[CEU][hapmap];0.85[GIH][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs4257260	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs4299203	0.90[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs4341796	0.84[MEX][hapmap]
rs4365346	0.86[EUR][1000 genomes]
rs4365348	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4368210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410135	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4426402	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4459604	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4470201	0.92[MEX][hapmap]
rs4471742	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4506967	0.82[EUR][1000 genomes]
rs4506969	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4561528	0.84[EUR][1000 genomes]
rs4584886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635395	0.82[ASN][1000 genomes]
rs4643387	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924822	0.92[MEX][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap]
rs4924823	0.87[LWK][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs4924832	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4925120	0.92[MEX][hapmap]
rs4925123	0.84[MEX][hapmap]
rs4925125	0.88[ASW][hapmap];0.92[MEX][hapmap];0.88[YRI][hapmap]
rs4925126	0.88[ASW][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs4925129	0.84[MEX][hapmap]
rs4925130	0.88[MEX][hapmap]
rs4925133	0.83[MEX][hapmap];0.90[TSI][hapmap]
rs4925135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925136	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5002487	0.84[MEX][hapmap]
rs59518074	0.87[EUR][1000 genomes]
rs62072048	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62072050	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62073573	0.87[EUR][1000 genomes]
rs6502622	0.92[MEX][hapmap]
rs6502624	0.92[MEX][hapmap]
rs6502627	0.92[JPT][hapmap]
rs6502631	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6502632	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502633	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502634	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502636	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6502637	0.86[EUR][1000 genomes]
rs6826	0.84[EUR][1000 genomes]
rs712267	0.83[EUR][1000 genomes]
rs712268	0.83[EUR][1000 genomes]
rs7207461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209003	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7210400	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7211714	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs7212167	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7212447	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs7213225	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs7214002	0.92[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs7215524	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721669	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs7219320	0.82[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs7219324	0.95[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7222480	0.84[MEX][hapmap]
rs7223696	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7224047	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7406744	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7406982	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs741782	0.83[EUR][1000 genomes]
rs7501812	0.80[MEX][hapmap]
rs7503334	0.84[MEX][hapmap]
rs7503738	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065416	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs8065563	0.84[MEX][hapmap]
rs8066764	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8066982	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs8068175	0.90[CEU][hapmap];0.84[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs8069811	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8070128	0.84[MEX][hapmap]
rs8070731	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070748	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs8071238	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8073001	0.92[MEX][hapmap]
rs8075189	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8078105	0.92[MEX][hapmap]
rs8078138	0.84[MEX][hapmap]
rs8079321	0.87[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap]
rs8080061	0.92[MEX][hapmap]
rs8080334	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080602	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080823	0.84[MEX][hapmap]
rs8082590	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs854763	0.95[CEU][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs854767	0.95[CEU][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs854768	0.83[EUR][1000 genomes]
rs854769	0.95[CEU][hapmap];0.82[GIH][hapmap];0.83[EUR][1000 genomes]
rs854770	0.83[EUR][1000 genomes]
rs854789	0.83[EUR][1000 genomes]
rs854790	0.95[CEU][hapmap];0.83[GIH][hapmap];0.82[EUR][1000 genomes]
rs854791	0.95[CEU][hapmap];0.85[GIH][hapmap];0.84[EUR][1000 genomes]
rs854808	0.83[EUR][1000 genomes]
rs854809	0.95[CEU][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs854814	0.95[CEU][hapmap];0.88[GIH][hapmap];0.84[EUR][1000 genomes]
rs854817	0.95[CEU][hapmap];0.85[GIH][hapmap];0.83[EUR][1000 genomes]
rs854818	0.82[EUR][1000 genomes]
rs9303144	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs950966	0.84[MEX][hapmap]
rs9894138	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9896837	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897761	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9899355	0.95[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs9907246	0.84[MEX][hapmap]
rs9907287	0.87[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap]
rs9908832	0.81[AFR][1000 genomes]
rs9911850	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9912096	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9912895	0.92[MEX][hapmap]
rs9913277	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9914127	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9915248	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2955359	C17orf39	cis	cerebellum	SCAN
rs2955359	TOM1L2	cis	cerebellum	SCAN
rs2955359	TOM1L2	cis	parietal	SCAN
rs2955359	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944000-17948200	Weak transcription	Aorta	Aorta
2	chr17:17944000-17948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:17944200-17947000	Enhancers	Fetal Heart	heart
6	chr17:17944200-17947000	Enhancers	Psoas Muscle	Psoas
7	chr17:17944200-17947400	Weak transcription	Fetal Intestine Small	intestine
8	chr17:17944200-17948000	Weak transcription	Thymus	Thymus
9	chr17:17944200-17948400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:17944200-17948400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:17944200-17948400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr17:17944200-17948600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:17944200-17950400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:17944200-17956000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:17944200-17957200	Weak transcription	NH-A	brain
16	chr17:17944200-17957400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr17:17944200-17957400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:17944400-17947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:17944400-17947200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:17944400-17947400	Weak transcription	Primary T cells from cord blood	blood
22	chr17:17944400-17947400	Weak transcription	Fetal Stomach	stomach
23	chr17:17944400-17948200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:17944400-17948400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:17944400-17948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17944400-17948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:17944400-17948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:17944400-17948800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:17944400-17949400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:17944400-17949400	Weak transcription	Colonic Mucosa	Colon
31	chr17:17944400-17949400	Weak transcription	Fetal Intestine Large	intestine
32	chr17:17944400-17949400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr17:17944400-17949600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:17944400-17950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:17944400-17957200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr17:17944400-17957200	Weak transcription	Gastric	stomach
37	chr17:17944400-17957200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr17:17944400-17957600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr17:17944400-17961800	Weak transcription	Fetal Kidney	kidney
40	chr17:17944400-17962000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:17944600-17946800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr17:17944600-17947000	Enhancers	HepG2	liver
44	chr17:17944600-17947400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr17:17944600-17957200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:17944800-17950200	Weak transcription	A549	lung
47	chr17:17944800-17950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:17945000-17948000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:17945000-17957000	Weak transcription	Fetal Lung	lung
50	chr17:17945000-17957400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links