Variant report

Variant	rs1734960
Chromosome Location	chr17:34336348-34336349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr17:34336179-34336466	K562	blood:	n/a	n/a
2	RAD21	chr17:34336343-34336751	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr17:34336155-34336638	HepG2	liver:	n/a	n/a
4	RAD21	chr17:34336084-34336716	HepG2	liver:	n/a	n/a
5	MYC	chr17:34336241-34336613	K562	blood:	n/a	n/a
6	RAD21	chr17:34336055-34336790	HepG2	liver:	n/a	n/a
7	CTCF	chr17:34336294-34336362	Fibrobl	skin:	n/a	n/a
8	HCFC1	chr17:34336128-34336620	K562	blood:	n/a	n/a
9	MAX	chr17:34336115-34336617	K562	blood:	n/a	n/a
10	MAX	chr17:34336313-34336501	HepG2	liver:	n/a	n/a
11	EGR1	chr17:34336165-34336434	K562	blood:	n/a	n/a
12	CTCF	chr17:34336240-34336390	GM12868	blood:	n/a	n/a
13	ZNF143	chr17:34336134-34336721	K562	blood:	n/a	n/a
14	RAD21	chr17:34336333-34336752	HCT-116	colon:	n/a	n/a
15	CTCF	chr17:34336299-34336669	A549	lung:	n/a	n/a
16	CTCF	chr17:34336037-34336827	K562	blood:	n/a	n/a
17	CTCF	chr17:34336220-34336370	HepG2	liver:	n/a	n/a
18	BHLHE40	chr17:34336322-34336547	HepG2	liver:	n/a	n/a
19	CTCF	chr17:34336253-34336797	HCT-116	colon:	n/a	n/a
20	RAD21	chr17:34336293-34336751	A549	lung:	n/a	n/a
21	CTCF	chr17:34336093-34336741	K562	blood:	n/a	n/a
22	CTCF	chr17:34336104-34336741	K562	blood:	n/a	n/a
23	CTCF	chr17:34336200-34336350	K562	blood:	n/a	n/a
24	RAD21	chr17:34336191-34336694	K562	blood:	n/a	n/a
25	MAZ	chr17:34336204-34336591	K562	blood:	n/a	n/a
26	CTCF	chr17:34336055-34336758	HepG2	liver:	n/a	n/a
27	RAD21	chr17:34336337-34336726	ECC-1	luminal epithelium:	n/a	n/a
28	SMC3	chr17:34336112-34336744	HepG2	liver:	n/a	n/a
29	SMC3	chr17:34336337-34336706	K562	blood:	n/a	n/a
30	CBX3	chr17:34336124-34336681	K562	blood:	n/a	n/a
31	CTCF	chr17:34336079-34336845	A549	lung:	n/a	n/a
32	E2F6	chr17:34336177-34336390	K562	blood:	n/a	n/a
33	RAD21	chr17:34336290-34336831	A549	lung:	n/a	n/a
34	RAD21	chr17:34336135-34336726	HepG2	liver:	n/a	n/a
35	UBTF	chr17:34336240-34336558	K562	blood:	n/a	n/a
36	CTCF	chr17:34336166-34336702	K562	blood:	n/a	n/a
37	CTCF	chr17:34336148-34336381	GM12891	blood:	n/a	n/a
38	CTCF	chr17:34336067-34336729	K562	blood:	n/a	n/a
39	MAX	chr17:34336068-34336726	K562	blood:	n/a	n/a
40	MAX	chr17:34336190-34336374	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000267566	TF binding region
ENSG00000267431	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10468597	0.89[ASN][1000 genomes]
rs1608205	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1608206	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624860	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1719194	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719197	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1719198	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1719199	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1719200	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1734954	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1734955	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1734957	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1734958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1734959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734961	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072667	0.81[ASN][1000 genomes]
rs2687497	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2702954	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41495150	0.84[ASN][1000 genomes]
rs41508645	0.86[EUR][1000 genomes]
rs61737011	0.81[ASN][1000 genomes]
rs7208990	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7209212	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7209448	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7213419	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7213890	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7214040	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7217257	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221040	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7221769	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73990617	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73990618	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73992656	0.89[ASN][1000 genomes]
rs73992657	0.89[ASN][1000 genomes]
rs854624	0.88[EUR][1000 genomes]
rs854626	0.88[EUR][1000 genomes]
rs854628	0.88[EUR][1000 genomes]
rs862820	0.89[ASN][1000 genomes]
rs9303694	0.89[ASN][1000 genomes]
rs9303695	0.89[ASN][1000 genomes]
rs9303696	0.89[ASN][1000 genomes]
rs9303697	0.81[ASN][1000 genomes]
rs9747255	0.98[EUR][1000 genomes]
rs9748167	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9908563	0.98[EUR][1000 genomes]
rs9914494	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9916758	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
24	nsv1059892	chr17:34330315-34442620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34329200-34336400	Enhancers	HepG2	liver
2	chr17:34334800-34340800	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr17:34335400-34337200	Weak transcription	Liver	Liver
4	chr17:34335600-34336600	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:34336000-34336400	Enhancers	GM12878-XiMat	blood
6	chr17:34336200-34336400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:34336200-34336600	Active TSS	K562	blood

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