Variant report

Variant	rs61253340
Chromosome Location	chr8:52444890-52444891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56804147	0.85[AFR][1000 genomes]
rs56838206	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57492114	0.85[AFR][1000 genomes]
rs58011283	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58215565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58782406	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59179309	0.85[AFR][1000 genomes]
rs60123283	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983450	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583096	0.85[AFR][1000 genomes]
rs73583098	0.85[AFR][1000 genomes]
rs73583102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584820	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838528	1.00[AFR][1000 genomes]
rs7845688	0.96[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	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:2 , 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	chr8:52442600-52448400	Weak transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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