Variant report

Variant	rs4483139
Chromosome Location	chr8:125099145-125099146
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	chr8:125093878..125096444-chr8:125098897..125100549,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10106600	0.82[AMR][1000 genomes]
rs1073178	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1075051	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10808530	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10808531	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10956163	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12541155	0.86[AMR][1000 genomes]
rs13251412	0.86[AMR][1000 genomes]
rs13254252	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13254498	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13258930	0.86[AMR][1000 genomes]
rs13261097	0.86[AMR][1000 genomes]
rs13269044	0.86[AMR][1000 genomes]
rs2069078	0.86[AMR][1000 genomes]
rs28550456	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4294164	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4330676	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4345538	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4374969	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4404895	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4412351	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4430074	0.86[AMR][1000 genomes]
rs4446721	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4460351	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4500064	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4510842	0.90[ASN][1000 genomes]
rs4623400	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871460	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4871461	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4871462	0.87[ASN][1000 genomes]
rs59583746	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470216	0.80[AMR][1000 genomes]
rs6470217	0.84[AMR][1000 genomes]
rs6470218	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470219	0.89[ASN][1000 genomes]
rs6470221	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6987082	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6991629	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7005123	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7007739	0.83[ASN][1000 genomes]
rs7012186	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7013226	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7815620	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7815768	0.86[AMR][1000 genomes]
rs7816075	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7822018	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7822557	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7825506	0.86[AMR][1000 genomes]
rs7826405	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7827412	0.94[ASN][1000 genomes]
rs7832499	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9643188	0.81[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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1823135	chr8:125095089-125104587	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
2	chr8:125084400-125100000	Weak transcription	Stomach Mucosa	stomach
3	chr8:125084400-125100200	Weak transcription	Gastric	stomach
4	chr8:125090800-125101200	Weak transcription	Right Ventricle	heart
5	chr8:125095400-125107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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