Variant report

Variant	rs6984491
Chromosome Location	chr8:52571954-52571955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10100917	0.89[AMR][1000 genomes]
rs12156370	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13266611	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2976211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4242468	0.87[AMR][1000 genomes]
rs4242469	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4256584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4272368	0.89[AMR][1000 genomes]
rs4354299	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4477010	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4549760	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4873581	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873585	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4873586	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4873587	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60640945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61427870	0.89[AMR][1000 genomes]
rs6995793	0.87[AMR][1000 genomes]
rs7017055	0.87[AMR][1000 genomes]
rs73572372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73574283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831731	0.87[AMR][1000 genomes]
rs7832319	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs876150	0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.89[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	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52563400-52573400	Weak transcription	Right Atrium	heart
2	chr8:52566400-52580800	Weak transcription	Aorta	Aorta
3	chr8:52566800-52575200	Weak transcription	Fetal Lung	lung
4	chr8:52566800-52577400	Weak transcription	Psoas Muscle	Psoas
5	chr8:52568200-52577000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:52568600-52576000	Weak transcription	Fetal Heart	heart
7	chr8:52570800-52575600	Weak transcription	Left Ventricle	heart
8	chr8:52571600-52572000	Weak transcription	Right Ventricle	heart

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