Variant report

Variant	rs4460359
Chromosome Location	chr8:60540056-60540057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60535322..60536941-chr8:60538447..60540477,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12234974	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925042	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16925089	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16925094	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16925109	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16925119	0.83[EUR][1000 genomes]
rs3857968	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501567	0.94[EUR][1000 genomes]
rs4518650	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4644228	0.83[EUR][1000 genomes]
rs56188656	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57310682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60064130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62504688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62504689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62504693	0.94[EUR][1000 genomes]
rs62504703	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6986251	0.90[JPT][hapmap]
rs6990562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6996733	0.84[EUR][1000 genomes]
rs7003175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655569	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655578	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814268	0.90[EUR][1000 genomes]
rs7842002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4460359	IMPAD1	cis	cerebellum	SCAN
rs4460359	CA8	cis	parietal	SCAN
rs4460359	RPS20	cis	parietal	SCAN
rs4460359	YTHDF3	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60533000-60541200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:60537000-60542000	Enhancers	NHDF-Ad	bronchial
3	chr8:60537200-60540400	Enhancers	Hela-S3	cervix
4	chr8:60537200-60541600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:60538200-60543200	Weak transcription	Fetal Brain Male	brain
6	chr8:60538600-60542000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:60538800-60540800	Enhancers	Osteobl	bone
8	chr8:60538800-60541000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:60539000-60541000	Weak transcription	HUVEC	blood vessel
10	chr8:60539200-60542000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:60539600-60540200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:60539600-60540200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:60539600-60540200	Enhancers	NH-A	brain
14	chr8:60539600-60540400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:60539800-60546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:60540000-60540600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:60540000-60542600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:60540000-60542600	Weak transcription	NHLF	lung

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