Variant report

Variant	rs12543020
Chromosome Location	chr8:63917689-63917690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1031552	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10464903	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464904	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464905	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957266	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957269	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957270	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12056582	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12114932	0.86[AFR][1000 genomes]
rs12541047	0.88[AMR][1000 genomes]
rs12541370	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12541993	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12543961	0.86[AMR][1000 genomes]
rs12545230	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12545245	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12547772	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12547848	0.83[AMR][1000 genomes]
rs12548729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549172	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12675369	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676348	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677953	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12677972	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12678042	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12678214	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12680223	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12681795	0.81[EUR][1000 genomes]
rs12682112	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12682385	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16929963	0.88[AMR][1000 genomes]
rs16929988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1963949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305558	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3758147	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780128	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3824333	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4310197	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4317561	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4404907	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4521747	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4534128	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4737621	0.86[AMR][1000 genomes]
rs4737625	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4737626	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4739028	0.85[AMR][1000 genomes]
rs4739031	0.87[AMR][1000 genomes]
rs4739032	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739046	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739047	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72658339	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72658340	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72658349	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658350	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658353	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658359	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658362	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658367	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658371	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72658375	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73684520	0.83[EUR][1000 genomes]
rs7818582	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs930840	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643545	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63915600-63919600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:63915600-63922200	Weak transcription	Fetal Kidney	kidney
4	chr8:63915800-63920200	Weak transcription	HepG2	liver
5	chr8:63916800-63919800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:63916800-63919800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:63916800-63920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:63916800-63920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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