Variant report

Variant	rs12512485
Chromosome Location	chr4:86091087-86091088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10516739	0.99[ASN][1000 genomes]
rs10516742	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11097043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097048	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11722654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722718	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726526	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11727618	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11728362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730119	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730334	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11730378	0.99[ASN][1000 genomes]
rs11730800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733099	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11733967	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734003	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734764	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734767	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734851	0.99[ASN][1000 genomes]
rs11734891	0.99[ASN][1000 genomes]
rs11735698	0.99[ASN][1000 genomes]
rs11735707	0.98[ASN][1000 genomes]
rs12502228	0.99[ASN][1000 genomes]
rs12502337	0.99[ASN][1000 genomes]
rs13110417	0.99[ASN][1000 genomes]
rs13119875	0.99[ASN][1000 genomes]
rs13120005	0.99[ASN][1000 genomes]
rs13120174	0.99[ASN][1000 genomes]
rs13120351	0.99[ASN][1000 genomes]
rs13120482	0.99[ASN][1000 genomes]
rs13127310	0.99[ASN][1000 genomes]
rs13130662	0.99[ASN][1000 genomes]
rs13134435	0.87[ASN][1000 genomes]
rs13141630	0.99[ASN][1000 genomes]
rs13142499	0.99[ASN][1000 genomes]
rs2869277	1.00[ASN][1000 genomes]
rs2869279	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869308	0.99[ASN][1000 genomes]
rs2869309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904044	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34021845	0.99[ASN][1000 genomes]
rs34474240	0.99[ASN][1000 genomes]
rs35854027	0.99[ASN][1000 genomes]
rs35869028	0.99[ASN][1000 genomes]
rs4286511	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288000	0.99[ASN][1000 genomes]
rs4326002	0.99[ASN][1000 genomes]
rs4438754	0.99[ASN][1000 genomes]
rs4450922	0.99[ASN][1000 genomes]
rs4452424	0.98[ASN][1000 genomes]
rs4585290	0.99[ASN][1000 genomes]
rs4619883	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5016524	0.85[ASN][1000 genomes]
rs55916595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235878	0.99[ASN][1000 genomes]
rs57520456	0.86[ASN][1000 genomes]
rs60520345	0.99[ASN][1000 genomes]
rs61192408	1.00[ASN][1000 genomes]
rs61225120	0.99[ASN][1000 genomes]
rs67621507	0.91[ASN][1000 genomes]
rs6819670	0.99[ASN][1000 genomes]
rs6821955	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6827141	0.99[ASN][1000 genomes]
rs6841089	0.99[ASN][1000 genomes]
rs6842256	0.90[ASN][1000 genomes]
rs6853683	0.99[ASN][1000 genomes]
rs7349600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666169	0.99[ASN][1000 genomes]
rs7700241	0.99[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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3367963	chr4:85911017-86246036	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv427685	chr4:86032872-86340548	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86090400-86091400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86091000-86092400	Enhancers	NHEK	skin

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