Variant report

Variant	rs7969112
Chromosome Location	chr12:40583826-40583827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40583667-40584606..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10437933	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10437934	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784407	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878160	0.89[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878161	0.84[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878162	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878170	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878174	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878180	0.90[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878199	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11612806	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463721	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1491932	0.81[ASN][1000 genomes]
rs17442770	0.89[CEU][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2201141	0.82[ASN][1000 genomes]
rs2263420	0.82[ASN][1000 genomes]
rs2279535	0.82[ASN][1000 genomes]
rs2307016	0.93[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2638230	0.82[ASN][1000 genomes]
rs2638233	0.84[ASN][1000 genomes]
rs2638272	0.80[ASN][1000 genomes]
rs2708418	0.85[ASN][1000 genomes]
rs2708419	0.83[ASN][1000 genomes]
rs2708420	0.86[ASN][1000 genomes]
rs2708422	0.86[ASN][1000 genomes]
rs2708424	0.84[ASN][1000 genomes]
rs2708435	0.95[JPT][hapmap]
rs2723259	0.84[ASN][1000 genomes]
rs4567538	0.95[JPT][hapmap]
rs57944060	0.82[ASN][1000 genomes]
rs6581578	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307584	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs767940	0.88[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7970326	0.82[ASN][1000 genomes]
rs7973254	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7969112	SLC2A13	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40582200-40584800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:40583800-40584400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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