Variant report

Variant	rs2028727
Chromosome Location	chr12:62494777-62494778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11174303	0.93[YRI][hapmap]
rs11609226	1.00[ASN][1000 genomes]
rs11612077	0.93[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs11612171	1.00[ASN][1000 genomes]
rs11615656	1.00[ASN][1000 genomes]
rs11832462	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836702	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11836749	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836835	1.00[ASN][1000 genomes]
rs11837325	1.00[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313846	0.93[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs17656359	0.93[CEU][hapmap]
rs17656662	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657275	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659212	1.00[ASN][1000 genomes]
rs17713184	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17713527	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17713954	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892748	1.00[ASN][1000 genomes]
rs55760731	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68065049	1.00[ASN][1000 genomes]
rs7139338	1.00[ASN][1000 genomes]
rs7296903	1.00[ASN][1000 genomes]
rs7308137	1.00[ASN][1000 genomes]
rs73123946	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123987	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129936	1.00[ASN][1000 genomes]
rs73131820	1.00[ASN][1000 genomes]
rs73131826	1.00[ASN][1000 genomes]
rs73131829	1.00[ASN][1000 genomes]
rs73131836	1.00[ASN][1000 genomes]
rs73133481	1.00[ASN][1000 genomes]
rs73133484	1.00[ASN][1000 genomes]
rs7979000	1.00[ASN][1000 genomes]
rs9669548	1.00[ASN][1000 genomes]
rs9738227	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9738424	1.00[ASN][1000 genomes]
rs9738426	1.00[ASN][1000 genomes]
rs9738798	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs9739100	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];1.00[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	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2028727	MIP	cis	parietal	SCAN
rs2028727	MON2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62491000-62495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62492200-62495600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62493400-62497000	Weak transcription	Pancreas	Pancrea

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