Variant report

Variant	rs12543836
Chromosome Location	chr8:60542774-60542775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60536802..60538571-chr8:60542161..60544626,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12541727	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543325	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12549759	0.94[ASN][1000 genomes]
rs12675414	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675873	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925000	1.00[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16925057	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925086	0.94[ASN][1000 genomes]
rs4737548	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737549	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738780	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57039053	0.91[ASN][1000 genomes]
rs57760637	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59144101	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017533	0.90[ASN][1000 genomes]
rs73680605	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73680606	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73680620	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680623	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680624	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73680627	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73680629	0.90[ASN][1000 genomes]
rs73680641	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030564	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539630	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60538200-60543200	Weak transcription	Fetal Brain Male	brain
2	chr8:60539800-60546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:60540200-60543200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:60540200-60543200	Weak transcription	NH-A	brain
5	chr8:60540400-60542800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:60540400-60542800	Weak transcription	Hela-S3	cervix
7	chr8:60540600-60543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:60541200-60545000	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:60541400-60543000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:60541400-60543000	Weak transcription	Osteobl	bone
11	chr8:60541400-60545000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:60541600-60542800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:60542000-60544400	Enhancers	Colon Smooth Muscle	Colon
14	chr8:60542400-60543200	Enhancers	NHDF-Ad	bronchial
15	chr8:60542400-60543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:60542400-60544400	Enhancers	HUVEC	blood vessel
17	chr8:60542600-60543800	Enhancers	NHLF	lung
18	chr8:60542600-60545200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:60542600-60545800	Enhancers	Rectal Smooth Muscle	rectum

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