Variant report

Variant	rs12046894
Chromosome Location	chr1:86769601-86769602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11161808	0.83[AMR][1000 genomes]
rs12022446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023726	0.83[AMR][1000 genomes]
rs12023799	0.83[AMR][1000 genomes]
rs12029568	0.83[AMR][1000 genomes]
rs12030666	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12032435	0.83[AMR][1000 genomes]
rs12034967	0.83[AMR][1000 genomes]
rs12037028	0.83[AMR][1000 genomes]
rs12037391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12038844	0.83[AMR][1000 genomes]
rs12039899	0.83[AMR][1000 genomes]
rs12043873	0.83[AMR][1000 genomes]
rs12044970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045012	0.83[AMR][1000 genomes]
rs12045465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046199	0.83[AMR][1000 genomes]
rs12047304	0.83[AMR][1000 genomes]
rs12047305	0.83[AMR][1000 genomes]
rs12047843	0.98[ASN][1000 genomes]
rs12047913	0.83[AMR][1000 genomes]
rs12048082	0.83[AMR][1000 genomes]
rs12048329	0.83[AMR][1000 genomes]
rs2274999	0.83[AMR][1000 genomes]
rs28688345	0.83[AMR][1000 genomes]
rs3737671	0.83[AMR][1000 genomes]
rs3765509	0.83[AMR][1000 genomes]
rs4497186	0.83[AMR][1000 genomes]
rs59775624	0.83[AMR][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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871223	chr1:86724523-86784804	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86762800-86771400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:86769000-86770600	Enhancers	Fetal Lung	lung
3	chr1:86769200-86770000	Enhancers	Fetal Stomach	stomach

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