Variant report

Variant	rs2272797
Chromosome Location	chr1:171118840-171118841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10489229	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080197	0.84[ASN][1000 genomes]
rs11809504	0.91[ASN][1000 genomes]
rs11812044	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11812061	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12402295	0.84[CHB][hapmap]
rs12403297	0.84[ASN][1000 genomes]
rs12405599	0.87[ASN][1000 genomes]
rs12406572	0.87[ASN][1000 genomes]
rs17564980	0.87[ASN][1000 genomes]
rs17565336	0.92[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17565579	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17565766	0.96[ASN][1000 genomes]
rs17565793	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17565983	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17565990	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17566256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623477	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17623598	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17623833	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066529	0.84[ASN][1000 genomes]
rs2142630	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2266780	0.87[ASN][1000 genomes]
rs2272799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272800	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281006	0.96[ASN][1000 genomes]
rs2281007	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2281008	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28363536	0.84[ASN][1000 genomes]
rs28363537	0.84[ASN][1000 genomes]
rs28363541	0.84[ASN][1000 genomes]
rs28363571	0.87[ASN][1000 genomes]
rs35156637	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3754487	0.83[CEU][hapmap]
rs3817765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55639094	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57147275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57519348	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57678907	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58044560	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58374074	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58509777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59184216	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6608452	0.96[ASN][1000 genomes]
rs6608453	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6608454	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7051747	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7054839	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7061710	0.87[ASN][1000 genomes]
rs7063044	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7066454	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72712649	0.84[ASN][1000 genomes]
rs72712658	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72712685	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7879557	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7885569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7886938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7887142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7889807	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7889839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909531	0.87[ASN][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2272797	RP1-127D3.4	cis	Adipose Subcutaneous	GTEx
rs2272797	FMO2	cis	Adipose Subcutaneous	GTEx
rs2272797	C1orf129	cis	cerebellum	SCAN
rs2272797	FMO2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171112200-171120600	Weak transcription	Fetal Kidney	kidney
2	chr1:171112400-171121800	Weak transcription	Aorta	Aorta
3	chr1:171112800-171121000	Weak transcription	Psoas Muscle	Psoas
4	chr1:171118400-171119800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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