Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10233975	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10260996	1.00[CHB][hapmap]
rs1121066	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs1121068	0.95[CHB][hapmap]
rs12669340	0.95[CHB][hapmap]
rs1330495	0.82[CHB][hapmap]
rs1622555	0.84[ASN][1000 genomes]
rs1642906	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1799008	1.00[CEU][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs1799015	0.88[CEU][hapmap];0.83[TSI][hapmap]
rs1799017	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1799019	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1799027	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs2080724	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4727776	0.86[CHB][hapmap]
rs4730561	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs484767	0.95[CHB][hapmap]
rs5000370	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs508990	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs509799	0.95[CHB][hapmap]
rs511615	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs522882	0.82[ASN][1000 genomes]
rs540841	0.95[CHB][hapmap]
rs544491	0.95[CHB][hapmap]
rs549261	0.82[ASN][1000 genomes]
rs549336	0.81[ASN][1000 genomes]
rs7788393	0.83[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap]

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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	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
rs4255073	MDH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78529800-78530600	Enhancers	Fetal Brain Female	brain

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