Variant report

Variant	rs1799008
Chromosome Location	chr7:78531682-78531683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10233975	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1642906	1.00[CEU][hapmap]
rs1799015	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs1799017	1.00[CEU][hapmap]
rs1799019	1.00[CEU][hapmap]
rs2080724	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4255073	1.00[CEU][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs4730561	0.87[EUR][1000 genomes]
rs509799	0.81[CHB][hapmap]
rs7788393	0.83[CEU][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
rs1799008	MDH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78531400-78532400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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