Variant report

Variant	rs6760693
Chromosome Location	chr2:125318223-125318224
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10187894	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11888989	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11892163	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13008208	1.00[JPT][hapmap]
rs13021695	1.00[JPT][hapmap]
rs13029736	1.00[JPT][hapmap]
rs13031933	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1587787	1.00[JPT][hapmap]
rs17011743	1.00[JPT][hapmap]
rs1847428	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34420072	0.88[EUR][1000 genomes]
rs36064320	0.87[EUR][1000 genomes]
rs6541961	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6748545	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs7420022	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs987656	1.00[CHB][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	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6760693	GLI2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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