Variant report

Variant	rs10808739
Chromosome Location	chr8:65640260-65640261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10808740	0.82[AMR][1000 genomes]
rs10957322	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10957323	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10957324	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs11984829	1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs11992601	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11992694	1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs11996540	0.92[CEU][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12156417	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12674544	0.82[YRI][hapmap]
rs13258167	1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265280	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13271746	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13272719	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13282180	0.85[AMR][1000 genomes]
rs2356985	0.85[EUR][1000 genomes]
rs2356986	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2884073	0.87[CHD][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2884074	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs28873972	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34237366	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34338127	0.91[EUR][1000 genomes]
rs34484820	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34520115	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34700548	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34781030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782690	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34896430	0.87[EUR][1000 genomes]
rs35196908	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35328846	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35407243	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35926758	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35928023	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4134342	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4385495	1.00[CHD][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480156	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4629907	0.89[EUR][1000 genomes]
rs4737199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737678	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737680	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4737681	0.92[CEU][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs4737683	0.97[EUR][1000 genomes]
rs55650602	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55666601	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55839813	0.85[AFR][1000 genomes]
rs55863909	0.97[EUR][1000 genomes]
rs55873211	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56136042	0.81[AFR][1000 genomes]
rs57696702	0.86[AFR][1000 genomes]
rs57755888	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58195923	0.97[EUR][1000 genomes]
rs58950093	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58994922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61028788	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521111	1.00[ASN][1000 genomes]
rs62521114	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521129	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521148	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6472153	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6987861	0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs6995461	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6997149	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7009078	1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs716283	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688019	0.86[AFR][1000 genomes]
rs7812644	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7814652	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7821085	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7826214	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826501	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9918790	1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][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

Variant related diseases (count:1)

Disease	PMID	Source
HIV-1 susceptibility	22174851	GWAS catalog

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65635000-65643000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:65635800-65642200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:65638000-65640800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:65638200-65641400	Weak transcription	Osteobl	bone
5	chr8:65638400-65641800	Weak transcription	Aorta	Aorta
6	chr8:65638400-65641800	Weak transcription	HSMMtube	muscle
7	chr8:65638400-65643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:65639200-65640400	Weak transcription	HSMM	muscle
9	chr8:65639200-65641000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:65639200-65641800	Weak transcription	NH-A	brain
11	chr8:65639400-65640400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:65639400-65640600	Enhancers	GM12878-XiMat	blood
13	chr8:65639600-65641000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:65639600-65641000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:65639600-65641600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:65639800-65641000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:65640000-65640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:65640000-65641000	Enhancers	HUES64 Cell Line	embryonic stem cell

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