Variant report

Variant	rs7213419
Chromosome Location	chr17:34329308-34329309
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr17:34328830-34329389	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:34327535-34329495	HepG2	liver:	n/a	n/a
3	FOXA2	chr17:34328949-34329396	HepG2	liver:	n/a	n/a
4	HNF4G	chr17:34328944-34329432	HepG2	liver:	n/a	chr17:34329165-34329180
5	NRF1	chr17:34329033-34329388	HepG2	liver:	n/a	chr17:34329199-34329210
6	BHLHE40	chr17:34328950-34329391	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:34328169-34329816	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:34328959-34329418	HepG2	liver:	n/a	n/a
9	RFX5	chr17:34329022-34329448	HepG2	liver:	n/a	n/a
10	TEAD4	chr17:34328884-34329592	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:34327720-34329511	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:34328926-34329422	HepG2	liver:	n/a	n/a
13	TBP	chr17:34327766-34329406	HepG2	liver:	n/a	n/a
14	POLR2A	chr17:34329006-34329383	HepG2	liver:	n/a	n/a
15	TAF1	chr17:34329054-34329396	HepG2	liver:	n/a	n/a
16	MYBL2	chr17:34328707-34329528	HepG2	liver:	n/a	n/a
17	HEY1	chr17:34327518-34329441	HepG2	liver:	n/a	n/a
18	CEBPZ	chr17:34328873-34329414	HepG2	liver:	n/a	n/a
19	SMC3	chr17:34328982-34329336	HepG2	liver:	n/a	n/a
20	USF2	chr17:34329054-34329344	HepG2	liver:	n/a	n/a
21	CEBPD	chr17:34329025-34329309	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:34328911-34329463	HepG2	liver:	n/a	n/a
23	SP1	chr17:34328863-34329471	HepG2	liver:	n/a	n/a
24	YY1	chr17:34329132-34329515	HepG2	liver:	n/a	n/a
25	REST	chr17:34328900-34329319	HepG2	liver:	n/a	n/a
26	NRF1	chr17:34329018-34329330	K562	blood:	n/a	chr17:34329199-34329210
27	MAZ	chr17:34328974-34329379	HepG2	liver:	n/a	n/a
28	MAFF	chr17:34329094-34329408	HepG2	liver:	n/a	n/a
29	MXI1	chr17:34328988-34329444	HepG2	liver:	n/a	n/a
30	NFIC	chr17:34328806-34329322	HepG2	liver:	n/a	n/a
31	POLR2A	chr17:34328752-34329391	HepG2	liver:	n/a	n/a
32	NFIC	chr17:34328702-34329398	HepG2	liver:	n/a	n/a
33	MAX	chr17:34329115-34329375	HepG2	liver:	n/a	n/a
34	MAFK	chr17:34329058-34329323	HepG2	liver:	n/a	n/a
35	HEY1	chr17:34328090-34329513	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
CCL15	TF binding region
CCL14	TF binding region
CCL15-CCL14	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10468597	1.00[ASN][1000 genomes]
rs1608205	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1608206	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1624860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1719197	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719198	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734955	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734957	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734958	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734959	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1734960	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1734961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072667	1.00[JPT][hapmap]
rs2687497	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2702954	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41495150	0.95[ASN][1000 genomes]
rs41508645	0.88[EUR][1000 genomes]
rs7208990	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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209448	1.00[CEU][hapmap];1.00[CHB][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]
rs7213890	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214040	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217257	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221040	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221769	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73990617	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73990618	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73992656	1.00[ASN][1000 genomes]
rs73992657	1.00[ASN][1000 genomes]
rs854624	0.86[EUR][1000 genomes]
rs854626	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs854628	0.86[EUR][1000 genomes]
rs862820	1.00[ASN][1000 genomes]
rs9303694	1.00[ASN][1000 genomes]
rs9303695	1.00[ASN][1000 genomes]
rs9303696	1.00[ASN][1000 genomes]
rs9303697	0.90[ASN][1000 genomes]
rs9747255	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9748167	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9908563	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914494	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9916758	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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
23	nsv1055760	chr17:34328461-34389926	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7213419	CCL3L1	cis	lymphoblastoid	seeQTL
rs7213419	CCL3	cis	lymphoblastoid	seeQTL
rs7213419	CCL4	cis	lymphoblastoid	seeQTL
rs7213419	CCL3L3	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34327200-34329600	Active TSS	Colonic Mucosa	Colon
2	chr17:34327800-34332200	Enhancers	GM12878-XiMat	blood
3	chr17:34328000-34329600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:34328000-34331000	Weak transcription	Small Intestine	intestine
5	chr17:34328400-34329600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:34328400-34329600	Flanking Active TSS	Liver	Liver
7	chr17:34328400-34329800	Enhancers	Pancreas	Pancrea
8	chr17:34328400-34330000	Enhancers	Spleen	Spleen
9	chr17:34328600-34330000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:34329000-34329400	Enhancers	Colon Smooth Muscle	Colon
11	chr17:34329000-34329400	Enhancers	Fetal Kidney	kidney
12	chr17:34329000-34329600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:34329000-34329800	Enhancers	Lung	lung
14	chr17:34329200-34329400	Enhancers	Gastric	stomach
15	chr17:34329200-34329600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr17:34329200-34329600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:34329200-34330000	Enhancers	Stomach Mucosa	stomach
18	chr17:34329200-34333400	Enhancers	Fetal Intestine Small	intestine
19	chr17:34329200-34333800	Enhancers	Fetal Intestine Large	intestine
20	chr17:34329200-34336400	Enhancers	HepG2	liver

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