Variant report

Variant	rs1319268
Chromosome Location	chr7:79668425-79668426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10227476	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10228945	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230913	0.88[ASN][1000 genomes]
rs10239028	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10250102	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250164	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10268369	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271308	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10275775	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10279480	0.91[ASN][1000 genomes]
rs1034722	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10486922	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1074944	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770145	0.90[EUR][1000 genomes]
rs17803489	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2007845	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2107269	0.84[ASN][1000 genomes]
rs2189450	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28601738	0.86[EUR][1000 genomes]
rs4727990	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731142	0.91[ASN][1000 genomes]
rs4731190	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61086456	0.92[EUR][1000 genomes]
rs6466888	0.91[ASN][1000 genomes]
rs6466904	0.92[EUR][1000 genomes]
rs6466926	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466928	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954322	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6963566	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6966542	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6973019	0.93[EUR][1000 genomes]
rs6975329	0.92[ASN][1000 genomes]
rs6975657	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs728459	0.86[ASN][1000 genomes]
rs728460	0.85[ASN][1000 genomes]
rs7778809	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7792173	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795034	0.83[ASN][1000 genomes]
rs7799547	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805603	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs886364	0.86[CHB][hapmap]
rs970112	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs970113	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv607676	chr7:79636682-79687844	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv818527	chr7:79636682-79687844	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607677	chr7:79636682-79693050	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv470344	chr7:79659914-79701003	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv607678	chr7:79665817-79726578	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1319268	GNAI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79666400-79668600	Weak transcription	Fetal Lung	lung
2	chr7:79668200-79669200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:79668200-79669200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:79668400-79669200	Enhancers	Adipose Nuclei	Adipose

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