Variant report

Variant	rs2111720
Chromosome Location	chr2:172422877-172422878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10455	0.90[CHB][hapmap];0.95[CHD][hapmap];0.80[ASN][1000 genomes]
rs11675373	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12999785	0.80[ASN][1000 genomes]
rs2356783	0.82[ASN][1000 genomes]
rs2542939	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2542941	0.85[CHB][hapmap];0.95[CHD][hapmap];0.80[ASN][1000 genomes]
rs2674490	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667690	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6734372	1.00[GIH][hapmap]
rs6743679	0.92[GIH][hapmap]
rs950163	0.90[CHB][hapmap];0.95[CHD][hapmap];0.80[ASN][1000 genomes]

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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2111720	SSB	cis	parietal	SCAN
rs2111720	CYBRD1	cis	cerebellum	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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