Variant report

Variant	rs4629907
Chromosome Location	chr8:65750826-65750827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10808739	0.85[CHD][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs10808740	1.00[ASN][1000 genomes]
rs10957322	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957323	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957324	0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984829	0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs11992601	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992694	0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs11996540	0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12156417	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674544	0.86[GIH][hapmap]
rs13258167	0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs13265280	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271746	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272719	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16931352	0.86[GIH][hapmap]
rs2356986	0.97[TSI][hapmap]
rs2884073	0.87[GIH][hapmap];0.81[TSI][hapmap]
rs2884074	0.97[TSI][hapmap]
rs28873972	0.82[EUR][1000 genomes]
rs34237366	0.82[EUR][1000 genomes]
rs34338127	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34484820	0.80[EUR][1000 genomes]
rs34520115	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34700548	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34781030	0.89[EUR][1000 genomes]
rs34782690	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34896430	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35196908	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35328846	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407243	0.87[EUR][1000 genomes]
rs35926758	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35928023	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134342	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258041	0.87[YRI][hapmap]
rs4358837	0.86[GIH][hapmap]
rs4385495	1.00[ASW][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4480156	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737199	0.89[EUR][1000 genomes]
rs4737677	0.86[GIH][hapmap]
rs4737678	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs4737680	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737681	1.00[ASW][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737683	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650602	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666601	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55863909	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873211	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57755888	0.90[EUR][1000 genomes]
rs58195923	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58950093	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58994922	0.89[EUR][1000 genomes]
rs61028788	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521114	0.80[EUR][1000 genomes]
rs62521118	0.89[EUR][1000 genomes]
rs62521129	0.90[EUR][1000 genomes]
rs62521148	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472153	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987861	1.00[ASW][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs6995461	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997149	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009078	0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716283	0.80[EUR][1000 genomes]
rs7812644	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821085	1.00[ASW][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap]
rs7826214	0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826501	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831851	0.93[GIH][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs9918790	0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4629907	EIF1AY	trans	lymphoblastoid	seeQTL
rs4629907	DDX3Y	trans	lymphoblastoid	seeQTL
rs4629907	RPS4Y1	trans	lymphoblastoid	seeQTL
rs4629907	KDM5D	trans	lymphoblastoid	seeQTL
rs4629907	XIST	trans	lymphoblastoid	seeQTL
rs4629907	ZRSR2	trans	lymphoblastoid	seeQTL
rs4629907	USP9Y	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65749600-65753800	Weak transcription	Adipose Nuclei	Adipose
2	chr8:65750000-65752600	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:65750400-65751000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:65750400-65751600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:65750600-65751000	Enhancers	Fetal Lung	lung
6	chr8:65750600-65751000	Enhancers	Fetal Stomach	stomach
7	chr8:65750600-65751000	Enhancers	Pancreas	Pancrea
8	chr8:65750600-65751000	Enhancers	Right Atrium	heart
9	chr8:65750600-65751200	Enhancers	Fetal Kidney	kidney
10	chr8:65750600-65751600	Enhancers	Liver	Liver
11	chr8:65750800-65751200	Enhancers	Ovary	ovary
12	chr8:65750800-65751600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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