Variant report

Variant	rs1367819
Chromosome Location	chr8:52368218-52368219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12675815	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12679304	0.80[ASN][1000 genomes]
rs13254318	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13263053	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1594498	0.88[ASN][1000 genomes]
rs1814121	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1835689	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4503089	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873196	0.83[EUR][1000 genomes]
rs6473609	0.83[EUR][1000 genomes]
rs7812416	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2496359	chr8:52366867-52368305	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52355400-52374000	Weak transcription	Right Ventricle	heart
2	chr8:52356800-52396200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:52365800-52369200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:52366200-52374000	Weak transcription	Right Atrium	heart
5	chr8:52366400-52374000	Weak transcription	Left Ventricle	heart
6	chr8:52367800-52368400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:52368200-52368400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:52368200-52370400	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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