Variant report

Variant	rs1989329
Chromosome Location	chr4:69769286-69769287
allele	A/C
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	chr4:69769240-69769390	RPTEC	kidney:	n/a	n/a
2	CTCF	chr4:69769180-69769330	GM12872	blood:	n/a	n/a
3	CTCF	chr4:69769180-69769330	GM12873	blood:	n/a	n/a
4	CTCF	chr4:69769260-69769410	HepG2	liver:	n/a	n/a
5	CTCF	chr4:69769180-69769330	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr4:69769240-69769390	GM12873	blood:	n/a	n/a
7	CTCF	chr4:69769160-69769310	GM12872	blood:	n/a	n/a
8	CTCF	chr4:69769160-69769310	GM12869	blood:	n/a	n/a
9	CTCF	chr4:69769160-69769310	GM12874	blood:	n/a	n/a
10	CTCF	chr4:69769240-69769390	GM12875	blood:	n/a	n/a
11	CTCF	chr4:69769180-69769330	HEK293	kidney:	n/a	n/a
12	CTCF	chr4:69769140-69769290	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69755920..69758085-chr4:69768537..69771437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248613	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10001065	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10013724	0.87[EUR][1000 genomes]
rs10024664	0.87[EUR][1000 genomes]
rs10032748	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10155063	0.99[ASN][1000 genomes]
rs1020767	0.82[EUR][1000 genomes]
rs10903220	0.87[EUR][1000 genomes]
rs10903221	0.87[EUR][1000 genomes]
rs11249512	0.85[EUR][1000 genomes]
rs11249513	0.85[EUR][1000 genomes]
rs11249515	0.85[EUR][1000 genomes]
rs1159714	0.80[EUR][1000 genomes]
rs1159715	0.80[EUR][1000 genomes]
rs11736796	0.86[EUR][1000 genomes]
rs11940320	0.93[EUR][1000 genomes]
rs11946857	0.82[EUR][1000 genomes]
rs12500785	0.94[ASN][1000 genomes]
rs12500933	0.91[EUR][1000 genomes]
rs12507556	0.81[CEU][hapmap]
rs12509066	0.82[EUR][1000 genomes]
rs12510036	0.93[EUR][1000 genomes]
rs13104293	0.82[EUR][1000 genomes]
rs13106664	0.83[EUR][1000 genomes]
rs13113544	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13128286	0.86[EUR][1000 genomes]
rs13128843	0.87[EUR][1000 genomes]
rs1379810	0.80[ASN][1000 genomes]
rs1458236	0.85[EUR][1000 genomes]
rs1458237	0.86[EUR][1000 genomes]
rs17146967	0.91[EUR][1000 genomes]
rs1841037	0.91[EUR][1000 genomes]
rs1902925	0.87[EUR][1000 genomes]
rs1902926	0.87[EUR][1000 genomes]
rs1902927	0.87[EUR][1000 genomes]
rs1902928	0.87[EUR][1000 genomes]
rs1962953	0.87[EUR][1000 genomes]
rs1968764	0.88[EUR][1000 genomes]
rs1993547	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2009312	0.87[EUR][1000 genomes]
rs2017125	0.87[EUR][1000 genomes]
rs2018150	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2125305	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2168840	0.82[EUR][1000 genomes]
rs2168841	0.85[EUR][1000 genomes]
rs2331561	0.85[EUR][1000 genomes]
rs2331562	0.85[EUR][1000 genomes]
rs2331577	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3088249	0.87[EUR][1000 genomes]
rs3749511	0.86[EUR][1000 genomes]
rs3749513	0.87[EUR][1000 genomes]
rs3828504	0.88[EUR][1000 genomes]
rs4412056	0.88[EUR][1000 genomes]
rs4515231	0.85[ASN][1000 genomes]
rs4518317	0.87[EUR][1000 genomes]
rs4694358	0.94[EUR][1000 genomes]
rs4694389	0.91[EUR][1000 genomes]
rs4694448	0.80[EUR][1000 genomes]
rs4694449	0.80[EUR][1000 genomes]
rs55647928	0.82[EUR][1000 genomes]
rs55795005	0.82[EUR][1000 genomes]
rs56371633	0.91[EUR][1000 genomes]
rs6600857	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6842605	0.91[EUR][1000 genomes]
rs6843537	0.81[EUR][1000 genomes]
rs6843550	0.82[EUR][1000 genomes]
rs6847539	0.87[EUR][1000 genomes]
rs6849125	0.93[EUR][1000 genomes]
rs7666446	0.87[EUR][1000 genomes]
rs7674475	0.87[EUR][1000 genomes]
rs969338	0.80[EUR][1000 genomes]
rs994229	0.87[EUR][1000 genomes]
rs9996467	0.87[EUR][1000 genomes]
rs9999996	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv879377	chr4:69663003-69771935	Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv879378	chr4:69673775-69771935	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 target site	49 gene(s)	inside rSNPs	diseases
8	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv518690	chr4:69752468-69772694	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv4372	chr4:69764499-69810115	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69762000-69769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:69763200-69769400	Weak transcription	Pancreas	Pancrea
3	chr4:69763200-69770200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:69765000-69770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:69766000-69769800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:69766600-69769600	Weak transcription	Liver	Liver
7	chr4:69768400-69770400	Weak transcription	HepG2	liver
8	chr4:69768600-69769400	Weak transcription	Fetal Intestine Small	intestine

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