Variant report

Variant	rs6984579
Chromosome Location	chr8:52449339-52449340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10093325	1.00[AMR][1000 genomes]
rs10099947	1.00[AMR][1000 genomes]
rs10108597	1.00[AMR][1000 genomes]
rs1318142	1.00[AMR][1000 genomes]
rs2217524	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2915506	1.00[AMR][1000 genomes]
rs2979115	1.00[AMR][1000 genomes]
rs56804147	1.00[AMR][1000 genomes]
rs56838206	0.81[AFR][1000 genomes]
rs57155671	1.00[AMR][1000 genomes]
rs57492114	1.00[AMR][1000 genomes]
rs58011283	0.87[AFR][1000 genomes]
rs58782406	0.87[AFR][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	1.00[AMR][1000 genomes]
rs59882925	1.00[AMR][1000 genomes]
rs59972649	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60123283	0.87[AFR][1000 genomes]
rs60820519	1.00[AMR][1000 genomes]
rs61134940	1.00[AMR][1000 genomes]
rs61136207	1.00[AMR][1000 genomes]
rs61305961	1.00[AMR][1000 genomes]
rs61336437	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983450	0.87[AFR][1000 genomes]
rs6989113	1.00[AMR][1000 genomes]
rs6990005	1.00[AMR][1000 genomes]
rs7013608	1.00[AMR][1000 genomes]
rs73579639	1.00[AMR][1000 genomes]
rs73579644	1.00[AMR][1000 genomes]
rs73579645	1.00[AMR][1000 genomes]
rs73579656	1.00[AMR][1000 genomes]
rs73579662	1.00[AMR][1000 genomes]
rs73579671	1.00[AMR][1000 genomes]
rs73579673	1.00[AMR][1000 genomes]
rs73579675	1.00[AMR][1000 genomes]
rs73579680	1.00[AMR][1000 genomes]
rs73579682	1.00[AMR][1000 genomes]
rs73579687	1.00[AMR][1000 genomes]
rs73581425	1.00[AMR][1000 genomes]
rs73581432	1.00[AMR][1000 genomes]
rs73583005	0.82[AFR][1000 genomes];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]
rs73584816	0.87[AFR][1000 genomes]
rs73584820	0.87[AFR][1000 genomes]
rs73586772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73588736	1.00[AMR][1000 genomes]
rs73588737	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831357	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: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	nsv890896	chr8:52428061-52454721	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	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	chr8:52441600-52453000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:52449000-52449400	Weak transcription	Left Ventricle	heart
3	chr8:52449200-52449600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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