Variant report

Variant	rs7486596
Chromosome Location	chr12:46819609-46819610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10785627	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10880967	0.81[AMR][1000 genomes]
rs10880968	0.83[AMR][1000 genomes]
rs10880969	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10880970	0.81[EUR][1000 genomes]
rs11183478	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11183479	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11183483	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12832777	0.81[EUR][1000 genomes]
rs1472179	0.81[AMR][1000 genomes]
rs2131371	0.80[EUR][1000 genomes]
rs4072304	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4258438	0.80[EUR][1000 genomes]
rs4427617	0.80[EUR][1000 genomes]
rs4768119	0.80[EUR][1000 genomes]
rs4768122	0.81[EUR][1000 genomes]
rs4768709	0.80[EUR][1000 genomes]
rs4768711	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4768712	0.81[AMR][1000 genomes]
rs4768713	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4768714	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4768715	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768716	0.80[EUR][1000 genomes]
rs4768717	0.81[EUR][1000 genomes]
rs4768718	0.81[EUR][1000 genomes]
rs6582646	0.81[EUR][1000 genomes]
rs7311504	0.81[EUR][1000 genomes]
rs7485580	0.81[EUR][1000 genomes]
rs7485599	0.80[EUR][1000 genomes]
rs7486495	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7486580	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7487828	0.91[AMR][1000 genomes]
rs7487877	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7488450	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7489242	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7968897	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46797000-46819800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:46809200-46820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:46810000-46823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:46813000-46820800	Weak transcription	Primary B cells from cord blood	blood

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