Variant report

Variant	rs12582180
Chromosome Location	chr12:50767285-50767286
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10467106	0.88[EUR][1000 genomes]
rs10506292	0.84[EUR][1000 genomes]
rs10783352	0.84[EUR][1000 genomes]
rs10783353	0.90[EUR][1000 genomes]
rs10876023	0.89[EUR][1000 genomes]
rs10876027	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876028	0.92[EUR][1000 genomes]
rs11169379	0.84[AFR][1000 genomes]
rs11169386	0.84[AFR][1000 genomes]
rs11169390	0.90[EUR][1000 genomes]
rs11169391	0.89[EUR][1000 genomes]
rs11169395	0.91[EUR][1000 genomes]
rs12299669	0.86[EUR][1000 genomes]
rs12299758	0.90[EUR][1000 genomes]
rs12303082	0.92[EUR][1000 genomes]
rs12422417	0.90[EUR][1000 genomes]
rs12814094	0.91[EUR][1000 genomes]
rs36017775	0.83[EUR][1000 genomes]
rs4348979	0.92[EUR][1000 genomes]
rs4421818	0.90[EUR][1000 genomes]
rs4445717	0.84[EUR][1000 genomes]
rs4768855	0.89[EUR][1000 genomes]
rs4768891	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768951	0.84[AFR][1000 genomes]
rs6580743	0.90[EUR][1000 genomes]
rs7295847	0.84[EUR][1000 genomes]
rs7296291	0.84[EUR][1000 genomes]
rs7302363	0.90[EUR][1000 genomes]
rs7312252	0.84[EUR][1000 genomes]
rs7489214	0.84[AFR][1000 genomes]
rs7971374	0.83[EUR][1000 genomes]
rs7972824	0.90[EUR][1000 genomes]
rs7973243	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7976270	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9668187	0.89[EUR][1000 genomes]
rs9739363	0.92[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	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12582180	CERS5	cis	Nerve Tibial	GTEx
rs12582180	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50764800-50774600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:50767200-50780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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