Variant report

Variant	rs1052299
Chromosome Location	chr17:17750419-17750420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17748813..17751782-chr17:17752295..17755701,3	MCF-7	breast:
2	chr17:17748143..17750438-chr17:17769133..17772614,3	K562	blood:
3	chr17:17748850..17751713-chr17:17788602..17790581,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10048206	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs11078399	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11078400	0.91[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11078403	0.80[AMR][1000 genomes]
rs11078406	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.81[AMR][1000 genomes]
rs11078408	0.81[GIH][hapmap];0.88[MEX][hapmap]
rs1108646	0.81[EUR][1000 genomes]
rs1108648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650649	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11650890	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11652144	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11652881	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap]
rs11654081	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs11656665	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11656840	0.82[CEU][hapmap]
rs11657074	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11657130	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11657423	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11658309	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11870660	0.81[GIH][hapmap];0.88[MEX][hapmap]
rs12450799	0.81[EUR][1000 genomes]
rs12600546	0.83[CEU][hapmap]
rs12936037	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12936927	0.83[EUR][1000 genomes]
rs12938501	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12941039	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]
rs12941550	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12943500	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.88[ASN][1000 genomes]
rs12946746	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12952723	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12953299	1.00[CHB][hapmap]
rs16960744	1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1889014	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1889018	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236513	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2297508	0.86[CEU][hapmap]
rs2350976	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap]
rs2350977	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs2955355	0.88[MEX][hapmap]
rs2955358	0.88[MEX][hapmap]
rs2955359	0.88[MEX][hapmap]
rs2955378	0.88[MEX][hapmap]
rs2955380	0.88[MEX][hapmap]
rs2955382	0.83[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap]
rs2955383	0.88[MEX][hapmap]
rs2955384	0.88[MEX][hapmap]
rs2955385	0.88[MEX][hapmap]
rs3183702	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35451946	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3744113	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3744115	1.00[ASW][hapmap];0.95[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818717	1.00[JPT][hapmap]
rs4077828	0.83[CEU][hapmap]
rs4244602	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4257260	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs4299203	0.81[GIH][hapmap];0.88[MEX][hapmap]
rs4341796	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs4368210	0.88[MEX][hapmap]
rs4413022	0.82[CEU][hapmap]
rs4459604	0.83[MEX][hapmap]
rs4470201	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs4584886	0.87[MEX][hapmap]
rs4924821	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4924822	0.95[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924823	0.91[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4924832	0.88[MEX][hapmap]
rs4925114	0.86[CEU][hapmap];0.84[TSI][hapmap]
rs4925115	0.91[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs4925116	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4925119	0.91[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4925120	1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4925123	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4925125	0.90[GIH][hapmap];0.96[MEX][hapmap];0.87[AMR][1000 genomes]
rs4925126	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes]
rs4925129	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs4925130	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap]
rs5002487	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs58638639	0.81[EUR][1000 genomes]
rs6502618	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502619	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6502622	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs6502624	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs6502625	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6502627	0.83[CEU][hapmap]
rs6502629	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap]
rs6502632	0.88[MEX][hapmap]
rs7207395	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7212167	0.88[MEX][hapmap]
rs7213225	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs7214002	0.82[CEU][hapmap]
rs7219320	0.88[MEX][hapmap]
rs7222480	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap]
rs7224815	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7359509	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7406982	0.88[MEX][hapmap]
rs7501812	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7503334	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7503747	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8065416	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs8065497	0.88[ASN][1000 genomes]
rs8065563	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066560	0.95[CEU][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8066982	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs8067439	0.83[TSI][hapmap]
rs8068175	0.81[GIH][hapmap];0.84[MEX][hapmap]
rs8070128	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs8070748	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs8073001	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs8078105	0.81[CEU][hapmap];0.96[MEX][hapmap]
rs8078138	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs8078583	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8078756	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079321	0.91[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8080061	0.91[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8080823	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs950966	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9890341	0.83[CEU][hapmap]
rs9891957	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893690	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9894257	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9895335	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9895750	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9896837	0.83[MEX][hapmap]
rs9899634	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9902941	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9906673	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907246	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9907287	0.91[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9908017	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9908299	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9911281	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9912895	0.83[CEU][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap]
rs9913277	0.83[MEX][hapmap]
rs9915248	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9915776	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
15	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	70 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
rs1052299	TOM1L2	cis	cerebellum	SCAN
rs1052299	TOM1L2	cis	parietal	SCAN
rs1052299	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17743000-17753000	Weak transcription	Fetal Kidney	kidney
2	chr17:17744000-17750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:17744400-17751800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr17:17744400-17752400	Weak transcription	Primary B cells from cord blood	blood
5	chr17:17744400-17756200	Weak transcription	Aorta	Aorta
6	chr17:17744400-17771400	Weak transcription	Fetal Brain Male	brain
7	chr17:17744600-17750600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr17:17744600-17752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:17744600-17752600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:17744800-17751400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:17744800-17751800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:17744800-17753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:17744800-17753000	Weak transcription	NH-A	brain
14	chr17:17745000-17752000	Weak transcription	HSMM	muscle
15	chr17:17745000-17752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:17745200-17751600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:17745200-17751800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:17745200-17753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:17745200-17753800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:17745200-17770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:17745400-17752400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:17745400-17753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:17746000-17752000	Weak transcription	Stomach Mucosa	stomach
24	chr17:17746200-17751400	Weak transcription	Right Atrium	heart
25	chr17:17746200-17751800	Weak transcription	Left Ventricle	heart
26	chr17:17746200-17752000	Weak transcription	Pancreas	Pancrea
27	chr17:17746200-17752600	Weak transcription	Hela-S3	cervix
28	chr17:17746800-17752000	Weak transcription	Fetal Lung	lung
29	chr17:17747400-17752800	Strong transcription	Fetal Stomach	stomach
30	chr17:17747800-17752000	Weak transcription	Fetal Heart	heart
31	chr17:17748000-17751600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:17748000-17751600	Weak transcription	HepG2	liver
33	chr17:17748200-17755800	Enhancers	Fetal Thymus	thymus
34	chr17:17748400-17751800	Genic enhancers	Lung	lung
35	chr17:17748400-17752200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr17:17748800-17751000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr17:17748800-17751800	Weak transcription	Brain Substantia Nigra	brain
38	chr17:17748800-17752000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:17748800-17755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:17749000-17751200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:17749000-17751600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr17:17749000-17752000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:17749000-17752000	Strong transcription	Esophagus	oesophagus
44	chr17:17749200-17750600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:17749200-17750600	Strong transcription	Adipose Nuclei	Adipose
46	chr17:17749200-17750800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:17749200-17751800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr17:17749200-17752200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:17749200-17755400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:17749200-17755400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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