Variant report

Variant	rs854624
Chromosome Location	chr17:34327923-34327924
allele	G/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	POLR2A	chr17:34327535-34329495	HepG2	liver:	n/a	n/a
2	NR2F2	chr17:34327637-34328156	MCF-7	breast:	n/a	n/a
3	RXRA	chr17:34327632-34328244	HepG2	liver:	n/a	n/a
4	TEAD4	chr17:34327663-34328520	HepG2	liver:	n/a	n/a
5	EP300	chr17:34327677-34328585	HepG2	liver:	n/a	n/a
6	SMC3	chr17:34327667-34328425	HepG2	liver:	n/a	chr17:34328102-34328116 chr17:34328329-34328337
7	RAD21	chr17:34327822-34328487	HepG2	liver:	n/a	n/a
8	GATA3	chr17:34327729-34328207	MCF-7	breast:	n/a	n/a
9	FOXA1	chr17:34327637-34328526	HepG2	liver:	n/a	n/a
10	RCOR1	chr17:34327843-34328437	HepG2	liver:	n/a	n/a
11	NFIC	chr17:34327744-34328101	HepG2	liver:	n/a	n/a
12	RXRA	chr17:34327694-34328130	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:34327720-34329511	HepG2	liver:	n/a	n/a
14	EP300	chr17:34327772-34328478	HepG2	liver:	n/a	n/a
15	EP300	chr17:34327657-34328217	HepG2	liver:	n/a	n/a
16	NR2F2	chr17:34327574-34328607	HepG2	liver:	n/a	n/a
17	MYBL2	chr17:34327528-34328446	HepG2	liver:	n/a	n/a
18	TBP	chr17:34327766-34329406	HepG2	liver:	n/a	n/a
19	FOXA1	chr17:34327642-34328530	HepG2	liver:	n/a	n/a
20	NR2F2	chr17:34327629-34328478	HepG2	liver:	n/a	n/a
21	HEY1	chr17:34327518-34329441	HepG2	liver:	n/a	n/a
22	JUN	chr17:34327876-34328386	HepG2	liver:	n/a	chr17:34328052-34328061
23	HNF4A	chr17:34327718-34328049	HepG2	liver:	n/a	n/a
24	FOXA2	chr17:34327744-34328152	HepG2	liver:	n/a	n/a
25	MYBL2	chr17:34327586-34328615	HepG2	liver:	n/a	n/a
26	ESR1	chr17:34327823-34328135	T-47D	breast:	n/a	n/a
27	MAX	chr17:34327766-34328074	HepG2	liver:	n/a	n/a
28	CEBPB	chr17:34327833-34328015	HepG2	liver:	n/a	n/a
29	JUND	chr17:34327715-34328111	HepG2	liver:	n/a	chr17:34328052-34328061 chr17:34328051-34328062
30	FOSL2	chr17:34327825-34328200	MCF-7	breast:	n/a	chr17:34328052-34328061
31	NFIC	chr17:34327618-34328532	HepG2	liver:	n/a	n/a
32	NR2F2	chr17:34327741-34328243	MCF-7	breast:	n/a	n/a
33	JUND	chr17:34327778-34328432	HepG2	liver:	n/a	chr17:34328052-34328061 chr17:34328051-34328062
34	ARID3A	chr17:34327658-34328409	HepG2	liver:	n/a	n/a
35	ESR1	chr17:34327724-34328097	T-47D	breast:	n/a	n/a
36	SP1	chr17:34327647-34328097	HepG2	liver:	n/a	n/a
37	GATA3	chr17:34327889-34328234	T-47D	breast:	n/a	n/a
38	USF1	chr17:34327779-34327964	HepG2	liver:	n/a	n/a
39	HNF4G	chr17:34327714-34328068	HepG2	liver:	n/a	n/a
40	FOSL2	chr17:34327708-34328185	HepG2	liver:	n/a	chr17:34328052-34328061
41	BHLHE40	chr17:34327631-34328115	HepG2	liver:	n/a	n/a
42	FOXA1	chr17:34327759-34328127	HepG2	liver:	n/a	n/a
43	FOSL2	chr17:34327771-34328500	HepG2	liver:	n/a	chr17:34328052-34328061
44	HDAC2	chr17:34327734-34328121	HepG2	liver:	n/a	n/a
45	ESR1	chr17:34327738-34328095	T-47D	breast:	n/a	n/a
46	CEBPB	chr17:34327769-34328105	HepG2	liver:	n/a	n/a
47	BHLHE40	chr17:34327796-34328088	HepG2	liver:	n/a	n/a
48	FOXA1	chr17:34327628-34328586	HepG2	liver:	n/a	n/a
49	MAFF	chr17:34327870-34328353	HepG2	liver:	n/a	n/a
50	BHLHE40	chr17:34327737-34328022	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000267566	TF binding region
CCL15	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1608205	0.88[EUR][1000 genomes]
rs1608206	0.88[EUR][1000 genomes]
rs1624860	0.88[EUR][1000 genomes]
rs1719194	0.88[EUR][1000 genomes]
rs1719197	0.88[EUR][1000 genomes]
rs1719198	0.88[EUR][1000 genomes]
rs1719199	0.88[EUR][1000 genomes]
rs1719200	0.88[EUR][1000 genomes]
rs1719201	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1734954	0.88[EUR][1000 genomes]
rs1734955	0.88[EUR][1000 genomes]
rs1734957	0.86[EUR][1000 genomes]
rs1734958	0.88[EUR][1000 genomes]
rs1734959	0.88[EUR][1000 genomes]
rs1734960	0.88[EUR][1000 genomes]
rs1734961	0.88[EUR][1000 genomes]
rs1734963	0.81[ASN][1000 genomes]
rs2687497	0.88[EUR][1000 genomes]
rs2702954	0.86[EUR][1000 genomes]
rs41508645	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56699936	0.81[ASN][1000 genomes]
rs7208990	0.86[EUR][1000 genomes]
rs7209212	0.86[EUR][1000 genomes]
rs7209448	0.86[EUR][1000 genomes]
rs7213419	0.86[EUR][1000 genomes]
rs7213890	0.86[EUR][1000 genomes]
rs7214040	0.86[EUR][1000 genomes]
rs7217257	0.86[EUR][1000 genomes]
rs7221040	0.86[EUR][1000 genomes]
rs7221769	0.86[EUR][1000 genomes]
rs73990617	0.86[EUR][1000 genomes]
rs73990618	0.86[EUR][1000 genomes]
rs854625	0.95[ASN][1000 genomes]
rs854626	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854628	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs854689	0.90[ASN][1000 genomes]
rs864976	0.87[ASN][1000 genomes]
rs9747255	0.86[EUR][1000 genomes]
rs9748167	0.86[EUR][1000 genomes]
rs9908563	0.86[EUR][1000 genomes]
rs9914494	0.86[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	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1062125	chr17:34266309-34442620	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv833427	chr17:34285285-34442620	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv1831753	chr17:34285285-34627742	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv1793798	chr17:34285285-34907282	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	esv1810659	chr17:34285285-34907282	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	esv1810804	chr17:34285285-34907282	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	esv1830012	chr17:34285285-34907282	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	esv1845538	chr17:34285285-34907282	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	esv1849179	chr17:34285285-34907282	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	esv2758450	chr17:34285285-34907282	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv428340	chr17:34285285-34907282	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
19	esv1829321	chr17:34285285-34921981	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
20	esv2758685	chr17:34285285-34921981	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS 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 target site	90 gene(s)	inside rSNPs	diseases
21	nsv1058029	chr17:34285312-34365313	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv543321	chr17:34285312-34365313	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs854624	CCL15	cis	multi-tissue	Pritchard
rs854624	CCL14	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34325600-34328400	Weak transcription	Spleen	Spleen
2	chr17:34327200-34329200	Active TSS	Fetal Intestine Small	intestine
3	chr17:34327200-34329600	Active TSS	Colonic Mucosa	Colon
4	chr17:34327400-34328000	Flanking Active TSS	Liver	Liver
5	chr17:34327400-34328800	Active TSS	Fetal Intestine Large	intestine
6	chr17:34327400-34328800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr17:34327400-34329000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr17:34327600-34328000	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr17:34327600-34328400	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr17:34327600-34329000	Active TSS	Rectal Smooth Muscle	rectum
11	chr17:34327800-34328000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr17:34327800-34328000	Active TSS	Small Intestine	intestine
13	chr17:34327800-34329200	Active TSS	Duodenum Mucosa	Duodenum
14	chr17:34327800-34332200	Enhancers	GM12878-XiMat	blood

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