Variant report

Variant	rs12550699
Chromosome Location	chr8:52290508-52290509
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:29)

rs_ID	r²[population]
rs10096044	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10104348	0.82[AMR][1000 genomes]
rs1367820	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1811360	0.93[EUR][1000 genomes]
rs1975113	0.93[EUR][1000 genomes]
rs2082279	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915492	0.93[EUR][1000 genomes]
rs2915493	0.93[EUR][1000 genomes]
rs2915495	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915502	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915504	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915505	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2976998	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2976999	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2977000	0.93[EUR][1000 genomes]
rs2977001	0.93[EUR][1000 genomes]
rs2977002	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2977003	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2977004	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2977005	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2977008	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2977012	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2977015	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2977020	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3097700	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3097701	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3097702	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873548	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs961353	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52284600-52294400	Weak transcription	Right Ventricle	heart
2	chr8:52284600-52296000	Weak transcription	Left Ventricle	heart
3	chr8:52289800-52291400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:52290000-52290600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr8:52290200-52291400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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