Variant report

Variant	rs73579639
Chromosome Location	chr8:52286469-52286470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10093325	1.00[AMR][1000 genomes]
rs10099947	1.00[AMR][1000 genomes]
rs10108597	1.00[AMR][1000 genomes]
rs10282900	1.00[AMR][1000 genomes]
rs1318142	1.00[AMR][1000 genomes]
rs2217524	1.00[AMR][1000 genomes]
rs2915506	1.00[AMR][1000 genomes]
rs2979115	1.00[AMR][1000 genomes]
rs56804147	1.00[AMR][1000 genomes]
rs57492114	1.00[AMR][1000 genomes]
rs58535627	1.00[AMR][1000 genomes]
rs58900486	1.00[AMR][1000 genomes]
rs59179309	1.00[AMR][1000 genomes]
rs59313662	1.00[AMR][1000 genomes]
rs59625467	1.00[AMR][1000 genomes]
rs59713862	1.00[AMR][1000 genomes]
rs59774513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59882925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59972649	1.00[AMR][1000 genomes]
rs60820519	1.00[AMR][1000 genomes]
rs60902678	1.00[AMR][1000 genomes]
rs61134940	1.00[AMR][1000 genomes]
rs61305961	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61336437	1.00[AMR][1000 genomes]
rs61443409	1.00[AMR][1000 genomes]
rs6984579	1.00[AMR][1000 genomes]
rs6989113	1.00[AMR][1000 genomes]
rs6990005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992320	1.00[AMR][1000 genomes]
rs7011456	1.00[AMR][1000 genomes]
rs7013608	1.00[AMR][1000 genomes]
rs73573815	1.00[AMR][1000 genomes]
rs73573886	1.00[AMR][1000 genomes]
rs73573893	1.00[AMR][1000 genomes]
rs73573897	1.00[AMR][1000 genomes]
rs73573901	1.00[AMR][1000 genomes]
rs73577617	1.00[AMR][1000 genomes]
rs73577619	1.00[AMR][1000 genomes]
rs73577620	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577623	1.00[AMR][1000 genomes]
rs73577678	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577680	1.00[AMR][1000 genomes]
rs73577701	1.00[AMR][1000 genomes]
rs73579644	1.00[AMR][1000 genomes]
rs73579645	1.00[AMR][1000 genomes]
rs73579656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579662	1.00[AMR][1000 genomes]
rs73579671	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579673	1.00[AMR][1000 genomes]
rs73579675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579680	1.00[AMR][1000 genomes]
rs73579682	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579687	1.00[AMR][1000 genomes]
rs73581425	1.00[AMR][1000 genomes]
rs73581432	1.00[AMR][1000 genomes]
rs73583005	1.00[AMR][1000 genomes]
rs73583068	1.00[AMR][1000 genomes]
rs73583070	1.00[AMR][1000 genomes]
rs73583076	1.00[AMR][1000 genomes]
rs73583082	1.00[AMR][1000 genomes]
rs73583096	1.00[AMR][1000 genomes]
rs73583098	1.00[AMR][1000 genomes]
rs73586772	1.00[AMR][1000 genomes]
rs7832682	1.00[AMR][1000 genomes]
rs7838528	1.00[AMR][1000 genomes]
rs9785122	1.00[AMR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52283000-52289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52283800-52287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:52284600-52294400	Weak transcription	Right Ventricle	heart
4	chr8:52284600-52296000	Weak transcription	Left Ventricle	heart
5	chr8:52285800-52286600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:52285800-52286800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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