Variant report

Variant	rs4305894
Chromosome Location	chr8:52698228-52698229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10104555	0.80[EUR][1000 genomes]
rs10106132	0.87[EUR][1000 genomes]
rs10106734	0.93[EUR][1000 genomes]
rs10111727	0.80[EUR][1000 genomes]
rs11984688	0.80[EUR][1000 genomes]
rs11990932	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11992330	0.93[EUR][1000 genomes]
rs12164174	0.86[YRI][hapmap]
rs16916958	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs1996261	1.00[CEU][hapmap]
rs4242473	0.87[EUR][1000 genomes]
rs4242477	0.87[EUR][1000 genomes]
rs4242478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4257997	0.87[EUR][1000 genomes]
rs4321995	0.85[AFR][1000 genomes]
rs4401853	0.92[YRI][hapmap]
rs4418330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4500071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4518654	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4545087	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs4565452	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4873599	0.87[EUR][1000 genomes]
rs4873600	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4873601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4873605	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4873612	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55730191	0.80[EUR][1000 genomes]
rs55791360	0.93[EUR][1000 genomes]
rs56034922	0.80[EUR][1000 genomes]
rs56105709	1.00[EUR][1000 genomes]
rs56109937	0.93[EUR][1000 genomes]
rs56150121	1.00[EUR][1000 genomes]
rs6473659	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6473662	0.86[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap]
rs6473663	0.86[EUR][1000 genomes]
rs6997032	0.87[EUR][1000 genomes]
rs6997972	1.00[CEU][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7000570	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583635	0.80[EUR][1000 genomes]
rs73583640	0.80[EUR][1000 genomes]
rs73588487	0.80[EUR][1000 genomes]
rs73592250	0.80[EUR][1000 genomes]
rs7459885	0.86[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap]
rs7820936	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7825492	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7827030	0.86[YRI][hapmap]
rs7845506	0.80[EUR][1000 genomes]
rs9643787	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1023825	chr8:52668824-52716137	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52686200-52703000	Weak transcription	Right Ventricle	heart
2	chr8:52696000-52701200	Weak transcription	Left Ventricle	heart
3	chr8:52697600-52698400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:52697600-52698400	Enhancers	NHEK	skin
5	chr8:52697600-52698600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:52698000-52698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:52698000-52698600	Enhancers	HMEC	breast

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