Variant report

Variant	rs534783
Chromosome Location	chr12:41462978-41462979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1434686	0.86[EUR][1000 genomes]
rs1655670	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1675476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797980	0.86[EUR][1000 genomes]
rs1797982	0.86[EUR][1000 genomes]
rs1797999	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1836304	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs185775	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903426	1.00[EUR][1000 genomes]
rs280369	1.00[EUR][1000 genomes]
rs280373	1.00[EUR][1000 genomes]
rs280376	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs280377	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs280378	1.00[EUR][1000 genomes]
rs280379	0.86[EUR][1000 genomes]
rs3905593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs396673	1.00[EUR][1000 genomes]
rs436655	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs443847	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447889	1.00[EUR][1000 genomes]
rs448780	0.86[EUR][1000 genomes]
rs473774	0.87[AMR][1000 genomes]
rs486730	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs486737	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs491015	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs492550	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514247	1.00[EUR][1000 genomes]
rs533681	1.00[EUR][1000 genomes]
rs533789	0.86[AMR][1000 genomes]
rs567561	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs577213	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690895	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs691482	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691730	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs691737	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692016	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs692143	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692148	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692639	1.00[EUR][1000 genomes]
rs692665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776884	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776891	1.00[EUR][1000 genomes]
rs776895	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs776896	0.86[EUR][1000 genomes]
rs7957386	1.00[EUR][1000 genomes]
rs989148	1.00[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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr12:41429000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41458000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:41458000-41474000	Weak transcription	Ovary	ovary
4	chr12:41459600-41463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41462000-41463600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:41462800-41465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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