Variant report

Variant	rs73940319
Chromosome Location	chr2:56052810-56052811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10167227	0.86[ASN][1000 genomes]
rs11694967	0.86[ASN][1000 genomes]
rs11888023	0.86[ASN][1000 genomes]
rs13384182	0.86[ASN][1000 genomes]
rs13395798	0.86[ASN][1000 genomes]
rs13404167	0.86[ASN][1000 genomes]
rs13429677	0.86[ASN][1000 genomes]
rs2082140	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2867970	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45535043	0.96[EUR][1000 genomes]
rs4991004	0.86[ASN][1000 genomes]
rs6723018	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6735143	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72807723	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571341	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9753376	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9753385	0.87[AMR][1000 genomes];0.96[EUR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56050400-56054400	Weak transcription	A549	lung
2	chr2:56051600-56053200	Enhancers	Placenta	Placenta
3	chr2:56051800-56053600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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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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