Variant report

Variant	rs729215
Chromosome Location	chr12:40505467-40505468
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10506143	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10506144	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10506146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10506147	0.93[EUR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11174631	0.86[AMR][1000 genomes]
rs11174697	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11175593	0.93[EUR][1000 genomes]
rs11564107	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11564117	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11564123	1.00[JPT][hapmap]
rs11564131	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11564152	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11564153	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs11564185	0.87[EUR][1000 genomes]
rs11564187	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs11564196	1.00[JPT][hapmap]
rs11564199	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11564209	0.87[EUR][1000 genomes]
rs11564210	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs11564212	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11564214	0.80[ASN][1000 genomes]
rs11564216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564218	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11564271	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12422544	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12422796	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12423551	1.00[JPT][hapmap]
rs12424040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12425561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12425630	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12426378	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12426643	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12427022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1388585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1388597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1463717	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17442924	0.93[EUR][1000 genomes]
rs17443078	0.93[EUR][1000 genomes]
rs17443178	0.86[EUR][1000 genomes]
rs17443185	0.93[EUR][1000 genomes]
rs17443206	0.93[EUR][1000 genomes]
rs17443600	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17443656	0.87[EUR][1000 genomes]
rs17458549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17458808	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17461387	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17461575	0.93[EUR][1000 genomes]
rs17461664	0.87[EUR][1000 genomes]
rs17465610	0.93[EUR][1000 genomes]
rs17465946	0.80[EUR][1000 genomes]
rs17466016	0.87[EUR][1000 genomes]
rs17483919	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17484003	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17484141	1.00[JPT][hapmap]
rs2131081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2638223	0.93[EUR][1000 genomes]
rs2708460	0.93[EUR][1000 genomes]
rs28365169	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28365173	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28365206	1.00[CHB][hapmap]
rs28365689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28370637	0.84[AMR][1000 genomes]
rs28370649	0.86[EUR][1000 genomes]
rs28370650	0.86[EUR][1000 genomes]
rs28370664	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28370682	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28370830	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36212067	0.87[EUR][1000 genomes]
rs36220738	0.87[EUR][1000 genomes]
rs4628750	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4767961	0.98[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4767962	0.80[ASN][1000 genomes]
rs4767965	0.93[EUR][1000 genomes]
rs4768206	0.86[AMR][1000 genomes]
rs4768213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768226	1.00[JPT][hapmap];0.87[EUR][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1846566	chr12:40498683-40527395	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1838306	chr12:40499495-40527395	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 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	chr12:40501200-40510200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:40505200-40508000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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