Variant report

Variant	rs56080343
Chromosome Location	chr12:118876918-118876919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1060964	0.83[EUR][1000 genomes]
rs10850968	0.90[ASN][1000 genomes]
rs10850969	0.95[ASN][1000 genomes]
rs10850970	0.97[ASN][1000 genomes]
rs11068926	0.81[EUR][1000 genomes]
rs11068933	0.83[ASN][1000 genomes]
rs11068937	0.90[ASN][1000 genomes]
rs11068940	0.97[ASN][1000 genomes]
rs11068941	0.97[ASN][1000 genomes]
rs11068943	0.95[ASN][1000 genomes]
rs11068945	0.97[ASN][1000 genomes]
rs17441033	0.80[EUR][1000 genomes]
rs17441061	0.81[EUR][1000 genomes]
rs17441075	0.81[EUR][1000 genomes]
rs17441172	0.86[EUR][1000 genomes]
rs17441251	0.90[EUR][1000 genomes]
rs17513006	0.90[EUR][1000 genomes]
rs17513013	0.90[EUR][1000 genomes]
rs2036314	0.82[EUR][1000 genomes]
rs2393403	0.81[EUR][1000 genomes]
rs2393415	0.90[EUR][1000 genomes]
rs2393416	0.90[EUR][1000 genomes]
rs4406856	0.90[EUR][1000 genomes]
rs4442583	0.81[EUR][1000 genomes]
rs4457791	0.90[EUR][1000 genomes]
rs55659011	0.81[EUR][1000 genomes]
rs55842338	0.90[EUR][1000 genomes]
rs56347775	0.90[EUR][1000 genomes]
rs61943369	0.82[EUR][1000 genomes]
rs61943370	0.81[EUR][1000 genomes]
rs61943371	0.81[EUR][1000 genomes]
rs61943405	0.81[EUR][1000 genomes]
rs61943406	0.81[EUR][1000 genomes]
rs61943443	0.82[EUR][1000 genomes]
rs61943444	0.84[EUR][1000 genomes]
rs61943447	0.86[EUR][1000 genomes]
rs61943451	0.90[EUR][1000 genomes]
rs61943452	0.90[EUR][1000 genomes]
rs61943454	0.90[EUR][1000 genomes]
rs61943455	0.90[EUR][1000 genomes]
rs61943456	0.90[EUR][1000 genomes]
rs61943457	0.90[EUR][1000 genomes]
rs7132753	0.84[EUR][1000 genomes]
rs7136676	0.81[EUR][1000 genomes]
rs7295288	0.81[EUR][1000 genomes]
rs7305647	0.82[EUR][1000 genomes]
rs73207504	0.86[EUR][1000 genomes]
rs73207564	0.86[EUR][1000 genomes]
rs73207566	0.90[EUR][1000 genomes]
rs7958551	0.90[EUR][1000 genomes]
rs7958652	0.90[EUR][1000 genomes]
rs7968371	0.86[EUR][1000 genomes]
rs882927	0.82[EUR][1000 genomes]
rs965524	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56080343	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118871200-118881800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118876000-118877800	Weak transcription	NHDF-Ad	bronchial
3	chr12:118876000-118879800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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