Variant report

Variant	rs1447070
Chromosome Location	chr8:105204608-105204609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1026058	1.00[CEU][hapmap]
rs1031228	0.82[EUR][1000 genomes]
rs1031230	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10505057	0.98[ASN][1000 genomes]
rs1447073	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1562402	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871032	0.81[ASN][1000 genomes]
rs16871036	0.81[ASN][1000 genomes]
rs1900521	0.94[EUR][1000 genomes]
rs2249124	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441791	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2441800	0.97[EUR][1000 genomes]
rs2441801	0.97[EUR][1000 genomes]
rs2441805	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441806	0.97[EUR][1000 genomes]
rs2441807	0.95[EUR][1000 genomes]
rs2441808	0.97[EUR][1000 genomes]
rs2441809	0.97[EUR][1000 genomes]
rs2441811	0.97[EUR][1000 genomes]
rs2441812	0.97[EUR][1000 genomes]
rs2441886	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441887	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2441890	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2441891	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441900	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441901	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441921	1.00[CEU][hapmap]
rs2511564	1.00[CEU][hapmap]
rs2511566	1.00[CEU][hapmap]
rs2511569	1.00[CEU][hapmap]
rs2511573	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511574	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511575	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511576	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511577	0.97[EUR][1000 genomes]
rs2511584	0.97[EUR][1000 genomes]
rs2511586	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511588	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511589	0.97[EUR][1000 genomes]
rs2511591	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511639	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511645	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133283	0.95[EUR][1000 genomes]
rs6651195	0.98[ASN][1000 genomes]
rs67581959	0.98[ASN][1000 genomes]
rs6989523	0.98[ASN][1000 genomes]
rs7018164	0.98[ASN][1000 genomes]
rs72685033	0.81[ASN][1000 genomes]
rs72685058	0.81[ASN][1000 genomes]
rs7841196	0.98[ASN][1000 genomes]
rs875503	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105188400-105211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:105202200-105205000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:105204400-105206000	Enhancers	Placenta Amnion	Placenta Amnion

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