Variant report

Variant	rs3805390
Chromosome Location	chr4:47665087-47665088
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	CTCF	chr4:47665080-47665230	MCF-7	breast:	n/a	chr4:47665180-47665190
2	CTCF	chr4:47665016-47665331	HepG2	liver:	n/a	chr4:47665180-47665190
3	ARID3A	chr4:47665081-47665333	K562	blood:	n/a	n/a
4	CTCF	chr4:47665080-47665230	BJ	skin:	n/a	chr4:47665180-47665190
5	CTCF	chr4:47664976-47665430	MCF-7	breast:	n/a	chr4:47665180-47665190
6	CTCF	chr4:47665060-47665210	NHEK	skin:	n/a	chr4:47665180-47665190
7	CBX3	chr4:47665008-47665342	HCT-116	colon:	n/a	n/a
8	CTCF	chr4:47665040-47665190	HFF-Myc	foreskin:	n/a	chr4:47665180-47665190
9	CTCF	chr4:47665063-47665311	H1-hESC	embryonic stem cell:	n/a	chr4:47665180-47665190
10	CTCF	chr4:47665020-47665170	GM12878	blood:	n/a	n/a
11	CTCF	chr4:47665080-47665230	HAc	cerebellar:	n/a	chr4:47665180-47665190
12	CTCF	chr4:47665020-47665170	WI-38	lung:	n/a	n/a
13	CTCF	chr4:47665040-47665190	HCT-116	colon:	n/a	chr4:47665180-47665190
14	CTCF	chr4:47665080-47665230	GM12864	blood:	n/a	chr4:47665180-47665190
15	CTCF	chr4:47665080-47665230	AG04449	skin:	n/a	chr4:47665180-47665190
16	CTCF	chr4:47665049-47665355	HCT-116	colon:	n/a	chr4:47665180-47665190
17	CTCF	chr4:47665080-47665230	GM06990	blood:	n/a	chr4:47665180-47665190
18	CTCF	chr4:47665086-47665293	Hela-S3	cervix:	n/a	chr4:47665180-47665190
19	CTCF	chr4:47665080-47665230	SK-N-SH_RA	brain:	n/a	chr4:47665180-47665190
20	CTCF	chr4:47665011-47665357	GM12878	blood:	n/a	chr4:47665180-47665190
21	CTCF	chr4:47665068-47665315	HUVEC	blood vessel:	n/a	chr4:47665180-47665190
22	CTCF	chr4:47665076-47665324	SK-N-SH_RA	brain:	n/a	chr4:47665180-47665190
23	CTCF	chr4:47665044-47665324	H1-hESC	embryonic stem cell:	n/a	chr4:47665180-47665190
24	CTCF	chr4:47665080-47665230	HEEpiC	esophagus:	n/a	chr4:47665180-47665190
25	CTCF	chr4:47665060-47665210	AoAF	blood vessel:	n/a	chr4:47665180-47665190
26	CTCF	chr4:47665080-47665230	GM12865	blood:	n/a	chr4:47665180-47665190
27	CTCF	chr4:47665060-47665210	HPAF	blood vessel:	n/a	chr4:47665180-47665190
28	CTCF	chr4:47665050-47665350	IMR90	lung:	n/a	chr4:47665180-47665190
29	CTCF	chr4:47665060-47665210	GM12865	blood:	n/a	chr4:47665180-47665190
30	ZNF143	chr4:47665076-47665280	K562	blood:	n/a	n/a
31	CTCF	chr4:47665080-47665230	HRE	kidney:	n/a	chr4:47665180-47665190
32	CTCF	chr4:47665020-47665170	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr4:47665068-47665305	K562	blood:	n/a	chr4:47665180-47665190
34	CTCF	chr4:47665060-47665210	WERI-Rb-1	eye:	n/a	chr4:47665180-47665190
35	CTCF	chr4:47665080-47665230	RPTEC	kidney:	n/a	chr4:47665180-47665190
36	CTCF	chr4:47665080-47665230	Hela-S3	cervix:	n/a	chr4:47665180-47665190
37	CTCF	chr4:47665080-47665230	SAEC	small airway:	n/a	chr4:47665180-47665190
38	CTCF	chr4:47665080-47665230	HCFaa	heart:	n/a	chr4:47665180-47665190
39	CTCF	chr4:47665080-47665230	Caco-2	colon:	n/a	chr4:47665180-47665190
40	CTCF	chr4:47665080-47665230	AG09319	gingival:	n/a	chr4:47665180-47665190
41	CTCF	chr4:47665000-47665370	K562	blood:	n/a	chr4:47665180-47665190

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47664704..47666852-chr4:47669426..47672146,2	K562	blood:

Variant related genes	Relation type
CORIN	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4131134	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62298034	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62299169	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62299170	0.83[EUR][1000 genomes]
rs62299171	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62299172	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447575	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818432	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680097	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7681719	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47644400-47681400	Weak transcription	Left Ventricle	heart
2	chr4:47646400-47707400	Weak transcription	Right Ventricle	heart
3	chr4:47653400-47703200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:47664400-47666200	Weak transcription	Fetal Heart	heart

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