Variant report

Variant	rs4694288
Chromosome Location	chr4:69614274-69614275
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12500065	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1355806	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1588708	0.97[ASN][1000 genomes]
rs1828697	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913322	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968764	0.81[EUR][1000 genomes]
rs2090000	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28836845	0.98[EUR][1000 genomes]
rs293404	0.98[EUR][1000 genomes]
rs293405	0.98[EUR][1000 genomes]
rs3113331	0.99[EUR][1000 genomes]
rs34355592	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35345766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs384038	0.98[EUR][1000 genomes]
rs387460	0.97[EUR][1000 genomes]
rs3934038	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406668	0.98[EUR][1000 genomes]
rs418081	0.97[EUR][1000 genomes]
rs436876	0.98[EUR][1000 genomes]
rs4694072	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694073	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72651926	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72651930	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657065	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	nsv1014042	chr4:69599853-69667996	Active TSS Flanking Active TSS Weak transcription Enhancers 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	chr4:69609800-69615400	Enhancers	Fetal Intestine Small	intestine
2	chr4:69612000-69615600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:69612000-69616000	Weak transcription	HepG2	liver
4	chr4:69613200-69615200	Enhancers	Fetal Intestine Large	intestine
5	chr4:69613400-69614800	Enhancers	A549	lung
6	chr4:69613400-69615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:69614000-69614400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:69614000-69614400	Flanking Active TSS	HMEC	breast
9	chr4:69614000-69615800	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:69614200-69614400	Enhancers	Liver	Liver
11	chr4:69614200-69614400	Enhancers	Fetal Kidney	kidney
12	chr4:69614200-69614400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:69614200-69614600	Enhancers	Stomach Mucosa	stomach

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