Variant report

Variant	rs12078333
Chromosome Location	chr1:185584204-185584205
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1073470	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073471	0.85[ASN][1000 genomes]
rs10798022	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798023	0.84[ASN][1000 genomes]
rs10911759	0.85[ASN][1000 genomes]
rs10911762	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10911764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10911766	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10911767	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911768	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911769	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10911770	0.80[ASN][1000 genomes]
rs10911771	0.92[ASN][1000 genomes]
rs11484606	0.81[ASN][1000 genomes]
rs12071422	0.85[ASN][1000 genomes]
rs12073090	0.80[ASN][1000 genomes]
rs12075447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12081447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12081525	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12083029	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091798	0.86[ASN][1000 genomes]
rs12402733	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565364	0.85[ASN][1000 genomes]
rs12567356	0.85[ASN][1000 genomes]
rs12567373	0.80[ASN][1000 genomes]
rs1830592	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830593	0.85[ASN][1000 genomes]
rs4330882	0.92[ASN][1000 genomes]
rs4565664	0.80[ASN][1000 genomes]
rs4650683	0.84[ASN][1000 genomes]
rs4651278	0.80[ASN][1000 genomes]
rs4651279	0.84[ASN][1000 genomes]
rs4651280	0.84[ASN][1000 genomes]
rs57929036	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210626	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59587435	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59739768	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772563	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60007510	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665534	0.80[ASN][1000 genomes]
rs6696493	0.82[ASN][1000 genomes]
rs73062745	0.80[ASN][1000 genomes]
rs73062748	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062749	0.85[ASN][1000 genomes]
rs73062758	0.80[ASN][1000 genomes]
rs73062759	0.80[ASN][1000 genomes]
rs73062761	0.85[ASN][1000 genomes]
rs73062767	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7416006	0.80[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185582000-185588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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