Variant report

Variant	rs12550189
Chromosome Location	chr8:64314301-64314302
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	chr8:64312553..64315389-chr8:64317911..64320594,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10093298	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095044	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10103710	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10107912	0.88[ASN][1000 genomes]
rs10112423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1013259	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10156375	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1030584	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1030585	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1030586	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10441558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808732	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957282	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10957283	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10957285	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11775060	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11777208	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11777936	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11779425	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544518	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12545091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549069	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13250116	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265562	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267865	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13277482	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1431591	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16930415	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2116339	0.84[ASN][1000 genomes]
rs2354894	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28540225	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28877014	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35674021	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4737646	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4739089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4739090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4739091	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56033239	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6472093	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6472094	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6472095	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6472096	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6472097	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6472103	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6472104	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6472106	0.83[ASN][1000 genomes]
rs6980685	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6981013	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981563	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6987680	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993493	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6994236	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997547	0.98[EUR][1000 genomes]
rs7006972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016013	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7459926	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7460026	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7462242	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464324	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7818456	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7825481	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834350	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840470	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7841852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841909	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs891691	0.92[EUR][1000 genomes]
rs9298075	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9298077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974555	0.81[AFR][1000 genomes];0.88[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	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv6229	chr8:64282018-64326530	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64310000-64314400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:64314200-64315000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:64314200-64315000	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:64314200-64315400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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