Variant report

Variant	rs4694270
Chromosome Location	chr4:69598506-69598507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1118920	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12507727	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12508833	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12510806	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12513178	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12646161	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12647610	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1598115	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1598116	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1598117	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2331430	0.86[ASN][1000 genomes]
rs34892533	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4694032	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694033	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4694037	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694245	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4694249	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55917665	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61556598	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72651921	0.94[AMR][1000 genomes];0.89[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	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv870075	chr4:69218674-69608683	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	esv2763366	chr4:69592847-69661427	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1013885	chr4:69592847-69667996	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829961	chr4:69592847-69695467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3404582	chr4:69595963-69600161	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv594579	chr4:69597175-69665970	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3524027	chr4:69597213-69599311	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	esv9553	chr4:69597701-69598549	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69590800-69601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69596200-69599800	Enhancers	HepG2	liver
3	chr4:69596600-69600800	Weak transcription	Pancreas	Pancrea
4	chr4:69598000-69599600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:69598200-69598800	Flanking Active TSS	Liver	Liver
6	chr4:69598400-69598600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr4:69598400-69598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:69598400-69598800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:69598400-69599000	Active TSS	A549	lung
10	chr4:69598400-69599200	Enhancers	Fetal Intestine Small	intestine

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