Variant report

Variant	rs7642015
Chromosome Location	chr3:46759368-46759369
allele	C/G
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	RAD21	chr3:46759055-46759647	H1-hESC	embryonic stem cell:	n/a	chr3:46759453-46759466 chr3:46759371-46759390 chr3:46759397-46759410
2	CTCF	chr3:46759340-46759490	MCF-7	breast:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
3	JUN	chr3:46759303-46759586	K562	blood:	n/a	n/a
4	CTCF	chr3:46759360-46759510	Caco-2	colon:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
5	CTCF	chr3:46759300-46759450	A549	lung:	n/a	chr3:46759368-46759389 chr3:46759374-46759390 chr3:46759376-46759386 chr3:46759373-46759391
6	EP300	chr3:46759229-46759632	H1-hESC	embryonic stem cell:	n/a	chr3:46759373-46759382
7	CTCF	chr3:46759280-46759622	ECC-1	luminal epithelium:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
8	CTCF	chr3:46759209-46759697	K562	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
9	CTCF	chr3:46759340-46759490	HFF	foreskin:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
10	CTCF	chr3:46759110-46759694	K562	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
11	POLR2A	chr3:46759351-46759531	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:46759152-46759744	K562	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
13	RAD21	chr3:46759352-46759549	K562	blood:	n/a	chr3:46759453-46759466 chr3:46759371-46759390 chr3:46759397-46759410
14	ZBTB7A	chr3:46759309-46759678	K562	blood:	n/a	chr3:46759374-46759383
15	CTCF	chr3:46759269-46759646	K562	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
16	CTCF	chr3:46759360-46759510	SAEC	small airway:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
17	CTCF	chr3:46758969-46759735	H1-hESC	embryonic stem cell:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
18	CTCF	chr3:46759320-46759470	HCT-116	colon:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
19	CTCF	chr3:46759366-46759370	GM13976	blood:	n/a	n/a
20	USF2	chr3:46759363-46759512	H1-hESC	embryonic stem cell:	n/a	n/a
21	GABPA	chr3:46759229-46759552	H1-hESC	embryonic stem cell:	n/a	chr3:46759435-46759444
22	POLR2A	chr3:46759292-46759549	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:46759358-46759517	T-47D	breast:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
24	CTCF	chr3:46759343-46759582	A549	lung:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
25	CTCF	chr3:46759327-46759658	MCF-7	breast:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
26	ATF3	chr3:46759331-46759550	H1-hESC	embryonic stem cell:	n/a	n/a
27	CCNT2	chr3:46759152-46759605	K562	blood:	n/a	n/a
28	BCLAF1	chr3:46759179-46759647	K562	blood:	n/a	n/a
29	CTCF	chr3:46759300-46759450	GM12868	blood:	n/a	chr3:46759368-46759389 chr3:46759374-46759390 chr3:46759376-46759386 chr3:46759373-46759391
30	CTCF	chr3:46759260-46759608	A549	lung:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
31	JUND	chr3:46759301-46759493	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr3:46759360-46759510	K562	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
33	CTCF	chr3:46759155-46759866	SK-N-SH	brain:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
34	CTCF	chr3:46759324-46759570	GM13977	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
35	YY1	chr3:46759301-46759573	K562	blood:	n/a	n/a
36	JUND	chr3:46759328-46759616	H1-hESC	embryonic stem cell:	n/a	n/a
37	NFYA	chr3:46759331-46759531	Hela-S3	cervix:	n/a	n/a
38	ATF2	chr3:46759302-46759627	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr3:46759321-46759561	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3A	chr3:46759324-46759634	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr3:46759258-46759674	H1-hESC	embryonic stem cell:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
42	RAD21	chr3:46759286-46759537	K562	blood:	n/a	chr3:46759453-46759466 chr3:46759371-46759390 chr3:46759397-46759410
43	CTCF	chr3:46759280-46759430	HFF-Myc	foreskin:	n/a	chr3:46759368-46759389 chr3:46759374-46759390 chr3:46759376-46759386 chr3:46759373-46759391
44	CTCF	chr3:46759347-46759551	Hela-S3	cervix:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
45	CTCF	chr3:46759300-46759450	MCF-7	breast:	n/a	chr3:46759368-46759389 chr3:46759374-46759390 chr3:46759376-46759386 chr3:46759373-46759391
46	YY1	chr3:46759235-46759610	K562	blood:	n/a	n/a
47	CTCF	chr3:46759300-46759450	GM12870	blood:	n/a	chr3:46759368-46759389 chr3:46759374-46759390 chr3:46759376-46759386 chr3:46759373-46759391
48	CTCF	chr3:46759306-46759595	NHEK	skin:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
49	CTCF	chr3:46759320-46759470	HCM	heart:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465
50	CTCF	chr3:46759360-46759510	GM12869	blood:	n/a	chr3:46759368-46759389 chr3:46759452-46759461 chr3:46759374-46759390 chr3:46759446-46759464 chr3:46759376-46759386 chr3:46759373-46759391 chr3:46759452-46759465

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46759335-46759385	A549	lung:	n/a
2	chr3:46759335-46759385	BJ	skin:	n/a
3	chr3:46759335-46759385	AG09309	skin:	n/a
4	chr3:46759335-46759385	HL-60	blood:	n/a
5	chr3:46759335-46759385	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:46759335-46759385	AG04449	skin:	fetal
7	chr3:46759335-46759385	ECC-1	luminal epithelium:	n/a
8	chr3:46759335-46759385	U87	brain:	n/a
9	chr3:46759335-46759385	PFSK-1	brain:	n/a
10	chr3:46759335-46759385	NH-A	brain:	n/a
11	chr3:46759335-46759385	SK-N-MC	brain:	n/a
12	chr3:46759335-46759385	GM12878	blood:	n/a
13	chr3:46759335-46759385	K562	blood:	n/a
14	chr3:46759335-46759385	Jurkat	blood:	n/a
15	chr3:46759335-46759385	HCM	heart:	n/a
16	chr3:46759335-46759385	RPTEC	kidney:	n/a
17	chr3:46759335-46759385	HCF	heart:	n/a
18	chr3:46759335-46759385	Caco-2	colon:	n/a
19	chr3:46759335-46759385	AoSMC	blood vessel:	n/a
20	chr3:46759335-46759385	BE2_C	brain:	n/a
21	chr3:46759335-46759385	GM12891	blood:	n/a
22	chr3:46759335-46759385	NB4	blood:	n/a
23	chr3:46759335-46759385	NHDF-neo	bronchial:	n/a
24	chr3:46759335-46759385	Hela-S3	cervix:	n/a
25	chr3:46759335-46759385	HMEC	breast:	n/a
26	chr3:46759335-46759385	Hepatocyte	liver:	n/a
27	chr3:46759335-46759385	CMK	blood:	n/a
28	chr3:46759335-46759385	PrEC	prostate:	n/a
29	chr3:46759335-46759385	SAEC	small airway:	n/a
30	chr3:46759335-46759385	HCPEpiC	choroid plexus:	n/a
31	chr3:46759335-46759385	HEK293	kidney:	embryo
32	chr3:46759335-46759385	HRPEpiC	eye:	n/a
33	chr3:46759335-46759385	ProgFib	skin:	n/a
34	chr3:46759335-46759385	HepG2	liver:	n/a
35	chr3:46759335-46759385	HEEpiC	esophagus:	n/a
36	chr3:46759335-46759385	ovcar-3	ovarian:	n/a
37	chr3:46759335-46759385	AG04450	lung:	fetal
38	chr3:46759335-46759385	GM06990	blood:	n/a
39	chr3:46759335-46759385	H1-hESC	embryonic stem cell:	embryo
40	chr3:46759335-46759385	AG10803	skin:	n/a
41	chr3:46759335-46759385	HRCEpiC	kidney:	n/a
42	chr3:46759335-46759385	MCF-7	breast:	n/a
43	chr3:46759335-46759385	LNCaP	prostate:	n/a
44	chr3:46759335-46759385	GM12892	blood:	n/a
45	chr3:46759335-46759385	AG09319	gingival:	n/a
46	chr3:46759335-46759385	SK-N-SH_RA	brain:	n/a
47	chr3:46759335-46759385	HIPEpiC	eye:	n/a
48	chr3:46759335-46759385	HUVEC	blood vessel:	n/a
49	chr3:46759335-46759385	HRE	kidney:	n/a
50	chr3:46759335-46759385	SKMC	muscle:	n/a

Variant related genes	Relation type
PRSS50	TF binding region
PRSS50	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs4075011	0.86[ASN][1000 genomes]
rs4075012	0.86[ASN][1000 genomes]
rs56084632	0.86[ASN][1000 genomes]
rs56720140	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57268847	0.86[ASN][1000 genomes]
rs57661142	0.86[ASN][1000 genomes]
rs58245995	0.86[ASN][1000 genomes]
rs58263848	0.86[ASN][1000 genomes]
rs58830807	0.86[ASN][1000 genomes]
rs58943210	0.86[ASN][1000 genomes]
rs59356397	0.86[ASN][1000 genomes]
rs59588744	0.86[ASN][1000 genomes]
rs59721087	0.86[ASN][1000 genomes]
rs59804016	0.86[ASN][1000 genomes]
rs59828146	0.86[ASN][1000 genomes]
rs59859985	0.86[ASN][1000 genomes]
rs60169344	0.82[ASN][1000 genomes]
rs60223148	0.86[ASN][1000 genomes]
rs60294661	0.86[ASN][1000 genomes]
rs60461823	0.83[ASN][1000 genomes]
rs61153905	0.86[ASN][1000 genomes]
rs61298367	0.86[ASN][1000 genomes]
rs62246211	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62246232	0.90[ASN][1000 genomes]
rs62246233	0.88[ASN][1000 genomes]
rs62246251	0.86[ASN][1000 genomes]
rs62246253	0.86[ASN][1000 genomes]
rs62246254	0.86[ASN][1000 genomes]
rs62248376	0.86[ASN][1000 genomes]
rs62248377	0.86[ASN][1000 genomes]
rs62248384	0.86[ASN][1000 genomes]
rs62248385	0.86[ASN][1000 genomes]
rs6442028	0.86[ASN][1000 genomes]
rs6764144	0.90[ASN][1000 genomes]
rs6773559	0.86[ASN][1000 genomes]
rs6780988	0.86[ASN][1000 genomes]
rs6786453	0.86[ASN][1000 genomes]
rs6789181	0.90[ASN][1000 genomes]
rs6797122	0.86[ASN][1000 genomes]
rs6801979	0.81[ASN][1000 genomes]
rs6803880	0.90[ASN][1000 genomes]
rs6805152	0.86[ASN][1000 genomes]
rs6807680	0.86[ASN][1000 genomes]
rs6810260	0.86[ASN][1000 genomes]
rs7616942	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7637019	0.86[ASN][1000 genomes]
rs7644977	0.86[ASN][1000 genomes]
rs7647424	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
4	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
9	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
14	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
15	nsv460525	chr3:46728659-46790397	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
16	nsv590179	chr3:46728659-46790397	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	nsv876745	chr3:46753976-46884552	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46744000-46792200	Weak transcription	Right Atrium	heart
2	chr3:46751600-46761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:46757800-46759400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:46758400-46759800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:46758800-46759400	Enhancers	Lung	lung
6	chr3:46758800-46759600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:46758800-46759600	Enhancers	Right Ventricle	heart
8	chr3:46759000-46759400	Enhancers	Esophagus	oesophagus
9	chr3:46759200-46759400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr3:46759200-46761000	Enhancers	Placenta Amnion	Placenta Amnion

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