Variant report

Variant	rs7665996
Chromosome Location	chr4:69731469-69731470
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	SPI1	chr4:69731453-69731829	HL-60	blood:	n/a	n/a
2	CTCF	chr4:69731460-69731610	MCF-7	breast:	n/a	n/a
3	FOXA2	chr4:69730376-69731587	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:69730313..69732082-chr4:69762356..69764791,2	MCF-7	breast:
2	chr4:69730473..69734007-chr4:69770100..69773388,5	MCF-7	breast:
3	chr4:69590462..69592610-chr4:69729563..69731579,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249235	TF binding region
ENSG00000272626	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10010381	0.88[EUR][1000 genomes]
rs10010497	0.88[EUR][1000 genomes]
rs10028938	0.84[EUR][1000 genomes]
rs11722451	0.87[EUR][1000 genomes]
rs11724821	0.88[EUR][1000 genomes]
rs11725000	0.87[EUR][1000 genomes]
rs11725119	0.93[EUR][1000 genomes]
rs11725502	0.84[EUR][1000 genomes]
rs11726045	0.86[EUR][1000 genomes]
rs11726322	0.95[ASN][1000 genomes]
rs11726946	0.97[ASN][1000 genomes]
rs11731269	0.80[EUR][1000 genomes]
rs11734565	0.81[EUR][1000 genomes]
rs11735873	0.87[EUR][1000 genomes]
rs11736654	0.87[EUR][1000 genomes]
rs11737527	0.87[EUR][1000 genomes]
rs11737566	0.94[ASN][1000 genomes]
rs11737644	0.91[EUR][1000 genomes]
rs11737672	0.87[EUR][1000 genomes]
rs11935951	0.91[JPT][hapmap]
rs13109724	0.91[JPT][hapmap]
rs17146905	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1902932	0.88[EUR][1000 genomes]
rs2175776	0.87[EUR][1000 genomes]
rs2331437	0.87[EUR][1000 genomes]
rs2331438	0.87[EUR][1000 genomes]
rs2331439	0.87[EUR][1000 genomes]
rs2331559	0.92[EUR][1000 genomes]
rs2926036	0.89[EUR][1000 genomes]
rs2926038	0.87[EUR][1000 genomes]
rs2942856	0.87[EUR][1000 genomes]
rs294759	0.92[EUR][1000 genomes]
rs294770	0.92[EUR][1000 genomes]
rs294775	0.80[EUR][1000 genomes]
rs294778	0.89[EUR][1000 genomes]
rs34100980	0.87[EUR][1000 genomes]
rs4348158	0.91[JPT][hapmap]
rs56068220	0.88[EUR][1000 genomes]
rs57504651	0.88[EUR][1000 genomes]
rs58813047	0.88[EUR][1000 genomes]
rs61749966	0.89[EUR][1000 genomes]
rs61750900	0.89[EUR][1000 genomes]
rs6600854	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6600855	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6815399	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6830149	0.87[EUR][1000 genomes]
rs6836520	0.91[EUR][1000 genomes]
rs6857353	0.98[ASN][1000 genomes]
rs72846859	0.82[EUR][1000 genomes]
rs72848040	0.86[EUR][1000 genomes]
rs72848056	0.87[EUR][1000 genomes]
rs7657958	0.89[EUR][1000 genomes]
rs7658577	0.87[EUR][1000 genomes]
rs7660491	0.93[EUR][1000 genomes]
rs7661050	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665417	0.98[ASN][1000 genomes]
rs7668868	0.98[ASN][1000 genomes]
rs7671312	0.87[EUR][1000 genomes]
rs7674919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676146	0.89[EUR][1000 genomes]
rs7676529	0.88[EUR][1000 genomes]
rs7678526	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7685333	0.89[EUR][1000 genomes]
rs7687748	0.87[EUR][1000 genomes]
rs7687951	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7698940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835309	0.89[EUR][1000 genomes]
rs835315	0.89[EUR][1000 genomes]
rs835316	0.95[EUR][1000 genomes]
rs835317	0.89[EUR][1000 genomes]
rs844342	0.89[EUR][1000 genomes]
rs861340	0.88[EUR][1000 genomes]
rs9329034	0.86[EUR][1000 genomes]
rs9993124	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	nsv1001923	chr4:69678883-69737036	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	esv2757063	chr4:69685048-69747559	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv967756	chr4:69726911-69750058	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69719800-69736600	Weak transcription	Pancreas	Pancrea
2	chr4:69728200-69732800	Weak transcription	K562	blood
3	chr4:69729200-69732600	Enhancers	Fetal Intestine Large	intestine
4	chr4:69729600-69733000	Enhancers	Fetal Intestine Small	intestine
5	chr4:69730200-69731800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:69730600-69731600	Enhancers	A549	lung
7	chr4:69730600-69731800	Enhancers	Liver	Liver
8	chr4:69730600-69733200	Enhancers	HepG2	liver
9	chr4:69730600-69736400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:69730600-69738600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:69731000-69731600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:69731000-69732400	Enhancers	Stomach Mucosa	stomach
13	chr4:69731400-69736400	Weak transcription	Rectal Mucosa Donor 29	rectum

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