Variant report

Variant	rs12579652
Chromosome Location	chr12:67253464-67253465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67253380..67256928-chr12:67258329..67261239,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10437935	0.81[AMR][1000 genomes]
rs10437969	0.81[AMR][1000 genomes]
rs10437970	0.81[AMR][1000 genomes]
rs10506502	0.81[AMR][1000 genomes]
rs10506504	0.81[AMR][1000 genomes]
rs10506506	0.81[AMR][1000 genomes]
rs10506507	0.81[AMR][1000 genomes]
rs11176441	0.81[AMR][1000 genomes]
rs11176445	0.81[AMR][1000 genomes]
rs11176446	0.81[AMR][1000 genomes]
rs11176447	0.81[AMR][1000 genomes]
rs11176455	0.81[ASN][1000 genomes]
rs12296450	0.81[AMR][1000 genomes]
rs12298007	0.81[AMR][1000 genomes]
rs12301508	0.81[AMR][1000 genomes]
rs12306322	0.81[AMR][1000 genomes]
rs12306499	0.81[AMR][1000 genomes]
rs12306766	0.81[AMR][1000 genomes]
rs12306768	0.81[AMR][1000 genomes]
rs12308379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12309707	0.81[AMR][1000 genomes]
rs12309869	0.81[AMR][1000 genomes]
rs12311631	0.81[AMR][1000 genomes]
rs12311739	0.81[AMR][1000 genomes]
rs12313831	0.81[AMR][1000 genomes]
rs12315409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12316709	0.81[AMR][1000 genomes]
rs12318172	0.81[AMR][1000 genomes]
rs12319096	0.81[AMR][1000 genomes]
rs12319870	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12320157	0.81[AMR][1000 genomes]
rs12320288	0.81[AMR][1000 genomes]
rs12322020	0.81[AMR][1000 genomes]
rs12322170	0.81[AMR][1000 genomes]
rs13377745	0.81[AMR][1000 genomes]
rs1504308	0.81[AMR][1000 genomes]
rs17247049	0.81[AMR][1000 genomes]
rs17827355	0.81[AMR][1000 genomes]
rs1921006	0.81[AMR][1000 genomes]
rs57685342	0.81[AMR][1000 genomes]
rs60903343	0.81[AMR][1000 genomes]
rs7957813	0.81[AMR][1000 genomes]
rs7971153	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1042117	chr12:67171949-67257435	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1038689	chr12:67174430-67257435	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1044061	chr12:67178298-67257941	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1045087	chr12:67225841-67257941	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv541522	chr12:67225841-67257941	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67246000-67254400	Weak transcription	Fetal Brain Male	brain
2	chr12:67253400-67253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67253400-67254600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:67253400-67254800	Enhancers	Placenta	Placenta
5	chr12:67253400-67255400	Enhancers	Primary T cells from cord blood	blood
6	chr12:67253400-67257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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