Variant report

Variant	rs4242469
Chromosome Location	chr8:52637169-52637170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10089130	0.90[AMR][1000 genomes]
rs10100917	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12156370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13249576	0.90[AMR][1000 genomes]
rs13266611	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13270730	0.81[AMR][1000 genomes]
rs2976211	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4242471	0.90[AMR][1000 genomes]
rs4256584	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4272368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4354299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4377956	0.90[AMR][1000 genomes]
rs4398903	0.90[AMR][1000 genomes]
rs4410894	0.90[AMR][1000 genomes]
rs4477010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4543529	0.86[AFR][1000 genomes]
rs4549760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4557692	0.86[AFR][1000 genomes]
rs4873203	0.90[AMR][1000 genomes]
rs4873204	0.88[AFR][1000 genomes]
rs4873581	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4873585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873589	0.90[AMR][1000 genomes]
rs4873590	0.90[AMR][1000 genomes]
rs60640945	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6984491	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7016577	0.86[AFR][1000 genomes]
rs73572372	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73574283	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73580249	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7817291	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7832319	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7836384	0.90[AMR][1000 genomes]
rs7841882	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs876150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv890898	chr8:52579964-52680933	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52634400-52637400	Enhancers	Left Ventricle	heart
2	chr8:52635200-52639000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:52636200-52637400	Enhancers	Right Atrium	heart
4	chr8:52636400-52637200	Enhancers	Right Ventricle	heart
5	chr8:52636400-52638400	Weak transcription	Pancreas	Pancrea

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