Variant report

Variant	rs12718293
Chromosome Location	chr7:48698624-48698625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10216285	0.83[EUR][1000 genomes]
rs10243683	0.91[CHB][hapmap];0.85[CHD][hapmap]
rs10254535	0.80[CEU][hapmap]
rs10255431	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs10269521	0.81[EUR][1000 genomes]
rs1317438	0.92[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs1318023	0.82[EUR][1000 genomes]
rs1318024	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs17132518	0.92[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs1918603	0.84[CEU][hapmap];0.91[CHB][hapmap]
rs1918604	0.84[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.85[TSI][hapmap]
rs3812250	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6976938	0.80[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606894	chr7:48663637-48718598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48698400-48700000	Weak transcription	Fetal Kidney	kidney
2	chr7:48698600-48700000	Enhancers	Fetal Lung	lung

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

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