Variant report

Variant	rs780045
Chromosome Location	chr2:125102573-125102574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1946552	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1946553	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2565761	0.84[CHB][hapmap]
rs720477	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs779981	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs779998	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs779999	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs780000	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs780046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs780057	0.80[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap]
rs780059	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs780060	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap]
rs796641	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs811902	0.86[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][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	nsv874989	chr2:124892592-125176030	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv523624	chr2:125099924-125112975	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs780045	GLI2	cis	parietal	SCAN

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

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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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