Variant report

Variant	rs12536816
Chromosome Location	chr7:65652739-65652740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs12530506	0.87[EUR][1000 genomes]
rs12530746	0.89[EUR][1000 genomes]
rs12531900	1.00[EUR][1000 genomes]
rs12532060	0.87[EUR][1000 genomes]
rs12532278	0.89[EUR][1000 genomes]
rs12532423	1.00[EUR][1000 genomes]
rs12532675	1.00[EUR][1000 genomes]
rs12533387	0.89[EUR][1000 genomes]
rs12534109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534249	0.89[EUR][1000 genomes]
rs12534477	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534881	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537039	0.89[EUR][1000 genomes]
rs12537368	0.89[EUR][1000 genomes]
rs12537698	0.89[EUR][1000 genomes]
rs12537936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538025	0.85[AMR][1000 genomes]
rs12538147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538379	0.89[EUR][1000 genomes]
rs12538961	0.89[EUR][1000 genomes]
rs12540307	0.80[EUR][1000 genomes]
rs12540667	0.87[EUR][1000 genomes]
rs12540888	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1363056	0.89[EUR][1000 genomes]
rs2292936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35910256	0.89[EUR][1000 genomes]
rs3735145	0.89[EUR][1000 genomes]
rs3815684	0.89[EUR][1000 genomes]
rs4149467	0.89[EUR][1000 genomes]
rs4717291	0.89[EUR][1000 genomes]
rs4718342	0.89[EUR][1000 genomes]
rs4718345	0.89[EUR][1000 genomes]
rs62465362	0.89[EUR][1000 genomes]
rs62465363	0.84[EUR][1000 genomes]
rs62465364	0.87[EUR][1000 genomes]
rs62465365	0.85[EUR][1000 genomes]
rs62465367	0.87[EUR][1000 genomes]
rs62465372	0.89[EUR][1000 genomes]
rs62465373	0.89[EUR][1000 genomes]
rs62465376	0.87[EUR][1000 genomes]
rs62465377	0.87[EUR][1000 genomes]
rs62465380	0.89[EUR][1000 genomes]
rs62465389	0.89[EUR][1000 genomes]
rs62465474	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465475	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465476	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465483	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465512	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465513	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465525	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465526	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465527	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465542	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62465545	0.92[EUR][1000 genomes]
rs62465546	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465547	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465550	0.89[EUR][1000 genomes]
rs62465552	1.00[EUR][1000 genomes]
rs62465554	1.00[EUR][1000 genomes]
rs62468669	0.92[EUR][1000 genomes]
rs62468673	0.95[EUR][1000 genomes]
rs62468674	0.95[EUR][1000 genomes]
rs62468677	0.89[EUR][1000 genomes]
rs62468679	0.89[EUR][1000 genomes]
rs62468696	0.89[EUR][1000 genomes]
rs62468699	0.81[EUR][1000 genomes]
rs62468700	0.89[EUR][1000 genomes]
rs62468702	0.89[EUR][1000 genomes]
rs62468705	0.89[EUR][1000 genomes]
rs62468707	0.87[EUR][1000 genomes]
rs62468708	0.87[EUR][1000 genomes]
rs62468709	0.81[EUR][1000 genomes]
rs62468711	0.89[EUR][1000 genomes]
rs62468712	0.84[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12536816	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65650000-65654600	Weak transcription	HepG2	liver
2	chr7:65652200-65653000	Enhancers	Fetal Intestine Small	intestine
3	chr7:65652200-65653400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:65652400-65653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:65652400-65656200	Enhancers	Liver	Liver
6	chr7:65652600-65653000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:65652600-65653000	Enhancers	Fetal Intestine Large	intestine
8	chr7:65652600-65653200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:65652600-65653200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:65652600-65653400	Enhancers	NHDF-Ad	bronchial

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