Variant report

Variant	rs12992054
Chromosome Location	chr2:37713203-37713204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37712267..37714639-chr2:37715187..37717308,2	MCF-7	breast:
2	chr2:37710296..37713273-chr2:37733233..37735732,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11124584	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11124585	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11681193	0.89[ASN][1000 genomes]
rs11890793	0.92[ASN][1000 genomes]
rs12616113	0.82[EUR][1000 genomes]
rs12992110	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12992431	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12992720	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12993204	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12995330	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13000102	0.82[EUR][1000 genomes]
rs13002004	0.86[EUR][1000 genomes]
rs13002345	0.87[EUR][1000 genomes]
rs13009200	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13016394	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13016831	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13387905	0.83[EUR][1000 genomes]
rs13412538	0.82[EUR][1000 genomes]
rs17020823	0.83[EUR][1000 genomes]
rs17020835	0.84[EUR][1000 genomes]
rs2080387	0.85[EUR][1000 genomes]
rs2192940	0.90[ASN][1000 genomes]
rs2192949	0.90[ASN][1000 genomes]
rs2216117	0.82[EUR][1000 genomes]
rs34130356	0.86[EUR][1000 genomes]
rs36046846	0.87[EUR][1000 genomes]
rs4384766	0.87[ASN][1000 genomes]
rs4503967	0.88[ASN][1000 genomes]
rs58367831	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58694726	0.84[EUR][1000 genomes]
rs60691585	0.87[EUR][1000 genomes]
rs62135566	0.83[EUR][1000 genomes]
rs62135567	0.83[EUR][1000 genomes]
rs62135568	0.83[EUR][1000 genomes]
rs6724538	0.82[EUR][1000 genomes]
rs6757678	0.82[EUR][1000 genomes]
rs72793797	0.89[ASN][1000 genomes]
rs7562026	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7562161	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7582414	0.88[ASN][1000 genomes]
rs7584987	0.89[ASN][1000 genomes]
rs7592144	0.85[EUR][1000 genomes]
rs7593333	0.82[EUR][1000 genomes]
rs7595792	0.83[EUR][1000 genomes]
rs888101	0.87[ASN][1000 genomes]
rs9678172	0.82[ASN][1000 genomes]
rs9941697	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12992054	DDX56	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37709600-37738000	Weak transcription	Liver	Liver
2	chr2:37711800-37713400	Enhancers	Fetal Heart	heart

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