Variant report

Variant	rs4925171
Chromosome Location	chr17:18226177-18226178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18226076-18226272	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:18225959-18226181	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:18225804-18226881	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:18225710-18229090	A549	lung:	n/a	n/a
5	POLR2A	chr17:18226010-18226188	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr17:18225638-18227595	Hela-S3	cervix:	n/a	n/a
7	MAX	chr17:18226099-18226778	A549	lung:	n/a	n/a
8	POLR2A	chr17:18225753-18226327	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:18226086-18226354	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:18225992-18226193	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:18225971-18226208	A549	lung:	n/a	n/a
12	USF2	chr17:18226175-18226478	Hela-S3	cervix:	n/a	n/a
13	MAX	chr17:18226057-18226762	MCF-7	breast:	n/a	n/a
14	MXI1	chr17:18226115-18227123	IMR90	lung:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18224827..18226997-chr17:18265358..18268214,2	MCF-7	breast:
2	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267350	TF binding region
ENSG00000177302	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000176974	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11868259	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11870126	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12936652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12936694	0.90[CHD][hapmap];0.92[GIH][hapmap]
rs12936769	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12937300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12939092	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12939259	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12939357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12939469	0.90[CHD][hapmap];0.92[GIH][hapmap]
rs12939757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945597	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12946058	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12949078	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12949983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12952556	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs12952667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378601	0.90[CHD][hapmap]
rs1378602	0.90[CHD][hapmap]
rs1563631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979276	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230154	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273028	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273030	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2360234	0.90[CHD][hapmap];0.92[GIH][hapmap]
rs2386456	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2386457	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2386458	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2461837	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2461838	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.80[EUR][1000 genomes]
rs2605136	0.90[CHD][hapmap];0.92[GIH][hapmap]
rs2605142	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2746023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2746024	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2746025	1.00[CHD][hapmap]
rs2746027	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs28419113	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3764405	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794771	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794772	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829583	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4603612	0.82[CHD][hapmap];0.92[GIH][hapmap]
rs4632181	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924839	0.90[CHD][hapmap]
rs4924841	0.90[CHD][hapmap];0.92[GIH][hapmap]
rs4924842	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924843	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4924845	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924847	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]
rs4924849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4925160	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925162	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925163	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925169	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4925172	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58215032	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs643333	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.82[EUR][1000 genomes]
rs6502643	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6502644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6502646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502649	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66903818	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs672356	0.81[EUR][1000 genomes]
rs7207123	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7207306	1.00[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7215839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7222684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223122	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8068602	0.83[EUR][1000 genomes]
rs8068854	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070633	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8071231	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071834	0.90[CHD][hapmap]
rs8073464	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8074444	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8080966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854771	0.82[CHD][hapmap];0.87[GIH][hapmap]
rs854772	0.90[CHD][hapmap]
rs854779	0.90[CHD][hapmap]
rs854795	0.90[CHD][hapmap]
rs854804	0.90[CHD][hapmap]
rs860567	0.90[CHD][hapmap];0.87[GIH][hapmap]
rs860568	0.90[CHD][hapmap];0.87[GIH][hapmap]
rs921865	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs921866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs921986	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs941451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9898631	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv521075	chr17:18220770-18227081	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs4925171	SHMT1	cis	Nerve Tibial	GTEx
rs4925171	SHMT1	Cis_1M	lymphoblastoid	RTeQTL
rs4925171	LLGL1	cis	Esophagus Mucosa	GTEx
rs4925171	RP11-258F1.1	cis	Adipose Subcutaneous	GTEx
rs4925171	SHMT1	cis	lymphoblastoid	seeQTL
rs4925171	TOP3A	cis	cerebellum	SCAN
rs4925171	MAPK7	cis	cerebellum	SCAN
rs4925171	SHMT1	cis	multi-tissue	Pritchard
rs4925171	MYO15A	cis	cerebellum	SCAN
rs4925171	LOC162632	cis	cerebellum	SCAN
rs4925171	LGALS9C	cis	Whole Blood	GTEx
rs4925171	LOC162632	cis	parietal	SCAN
rs4925171	SHMT1	cis	Artery Tibial	GTEx
rs4925171	SHMT1	cis	Muscle Skeletal	GTEx
rs4925171	SHMT1	cis	Esophagus Muscularis	GTEx
rs4925171	PIGL	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18219400-18227200	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:18220200-18228000	Weak transcription	Fetal Kidney	kidney
4	chr17:18220400-18228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:18221600-18226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:18221600-18226200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:18222400-18227200	Weak transcription	HUVEC	blood vessel
8	chr17:18222400-18266200	Weak transcription	Small Intestine	intestine
9	chr17:18222600-18227200	Weak transcription	Psoas Muscle	Psoas
10	chr17:18222600-18240800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:18222600-18243200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:18222800-18226200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:18222800-18236800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:18223000-18226200	Weak transcription	Hela-S3	cervix
15	chr17:18223000-18228200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:18223400-18228400	Strong transcription	Primary B cells from cord blood	blood
17	chr17:18223400-18235400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:18223600-18240800	Strong transcription	Fetal Muscle Leg	muscle
19	chr17:18223600-18265400	Strong transcription	Fetal Stomach	stomach
20	chr17:18223800-18226200	Weak transcription	Osteobl	bone
21	chr17:18223800-18226800	Weak transcription	NHDF-Ad	bronchial
22	chr17:18223800-18227400	Weak transcription	NH-A	brain
23	chr17:18223800-18229200	Strong transcription	NHEK	skin
24	chr17:18223800-18236800	Strong transcription	Primary T cells from cord blood	blood
25	chr17:18223800-18236800	Strong transcription	Lung	lung
26	chr17:18223800-18240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:18223800-18253600	Strong transcription	Thymus	Thymus
28	chr17:18224000-18231000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr17:18224000-18236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:18224000-18236600	Strong transcription	Fetal Intestine Large	intestine
31	chr17:18224000-18236800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:18224000-18240800	Strong transcription	Dnd41	blood
33	chr17:18224200-18226600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr17:18224200-18227400	Weak transcription	Fetal Brain Male	brain
35	chr17:18224200-18227600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr17:18224200-18228000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:18224200-18228200	Strong transcription	Fetal Intestine Small	intestine
38	chr17:18224200-18229400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:18224200-18230200	Strong transcription	Brain Anterior Caudate	brain
40	chr17:18224200-18234600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:18224200-18235600	Strong transcription	Esophagus	oesophagus
42	chr17:18224200-18236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:18224200-18236400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:18224200-18236600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr17:18224200-18236600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:18224200-18240800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr17:18224200-18253000	Weak transcription	Fetal Heart	heart
48	chr17:18224400-18226400	Strong transcription	Spleen	Spleen
49	chr17:18224400-18227800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:18224400-18249400	Weak transcription	K562	blood

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