Variant report

Variant	rs2537805
Chromosome Location	chr12:10406028-10406029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10743875	0.81[EUR][1000 genomes]
rs10743881	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10845104	0.88[ASN][1000 genomes]
rs11053701	0.95[ASN][1000 genomes]
rs11053709	0.82[EUR][1000 genomes]
rs11830137	0.88[EUR][1000 genomes]
rs12302171	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12303774	0.95[ASN][1000 genomes]
rs12304713	0.90[ASN][1000 genomes]
rs12315681	0.90[ASN][1000 genomes]
rs12315815	0.90[ASN][1000 genomes]
rs12321554	0.97[EUR][1000 genomes]
rs12813575	0.90[ASN][1000 genomes]
rs12817905	0.90[ASN][1000 genomes]
rs12818742	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12821332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828163	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828540	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12829898	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831232	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832221	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832489	0.90[ASN][1000 genomes]
rs17206564	0.85[ASN][1000 genomes]
rs2537793	0.90[ASN][1000 genomes]
rs2617128	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34282122	0.90[ASN][1000 genomes]
rs34790670	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34859528	0.90[ASN][1000 genomes]
rs34956502	0.90[ASN][1000 genomes]
rs35510688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35518026	0.90[ASN][1000 genomes]
rs35567183	0.85[EUR][1000 genomes]
rs35868193	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4346056	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4365134	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56272210	0.93[ASN][1000 genomes]
rs58700703	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488275	0.82[EUR][1000 genomes]
rs71450031	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71450032	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71450033	0.90[ASN][1000 genomes]
rs71450034	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs765790	0.84[EUR][1000 genomes]
rs765792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963011	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2537805	RP11-656E20.5	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10398800-10436200	Weak transcription	Placenta	Placenta

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