Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10182802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10191595	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10194988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10206071	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11888554	0.81[EUR][1000 genomes]
rs11890921	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11903634	0.81[EUR][1000 genomes]
rs13391789	0.80[ASN][1000 genomes]
rs13401325	0.88[ASN][1000 genomes]
rs1921795	0.90[ASN][1000 genomes]
rs1921797	0.90[ASN][1000 genomes]
rs4675506	0.81[ASN][1000 genomes]
rs4675507	0.81[ASN][1000 genomes]
rs57752058	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58915278	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6435277	0.91[ASN][1000 genomes]
rs6713357	0.88[ASN][1000 genomes]
rs6721537	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758774	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592296	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7593200	0.89[EUR][1000 genomes]
rs7593566	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv875730	chr2:206057649-206093367	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6758662	ALS2CR12	cis	parietal	SCAN
rs6758662	ZDBF2	cis	cerebellum	SCAN
rs6758662	FAM126B	cis	cerebellum	SCAN
rs6758662	CRYGB	cis	cerebellum	SCAN
rs6758662	CCNYL1	cis	cerebellum	SCAN
rs6758662	GPR1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206075200-206100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:206081000-206098600	Weak transcription	Fetal Lung	lung
3	chr2:206081400-206094200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:206082400-206100800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:206083000-206100400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:206085800-206120800	Weak transcription	Left Ventricle	heart

Quick Search: