Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12072238	1.00[EUR][1000 genomes]
rs55846815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55993187	1.00[EUR][1000 genomes]
rs56150326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56248351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57611740	1.00[AMR][1000 genomes]
rs58167853	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58263443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291780	1.00[EUR][1000 genomes]
rs59994037	1.00[EUR][1000 genomes]
rs60155065	1.00[EUR][1000 genomes]
rs6675116	1.00[EUR][1000 genomes]
rs73047669	1.00[EUR][1000 genomes]
rs74132998	1.00[EUR][1000 genomes]
rs74133000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133646	1.00[EUR][1000 genomes]
rs74133647	1.00[EUR][1000 genomes]
rs74133648	1.00[EUR][1000 genomes]
rs74135803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135816	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135829	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135834	1.00[AMR][1000 genomes]
rs74135835	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74135840	0.90[AFR][1000 genomes];1.00[EUR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180687000-180700400	Weak transcription	K562	blood
2	chr1:180691400-180701800	Weak transcription	Left Ventricle	heart
3	chr1:180692200-180699800	Weak transcription	Aorta	Aorta
4	chr1:180695400-180698200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:180697200-180698000	Weak transcription	Psoas Muscle	Psoas
6	chr1:180697600-180698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:180697600-180698200	Enhancers	NHEK	skin
8	chr1:180697600-180698400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:180697800-180698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:180697800-180698200	Enhancers	HMEC	breast
11	chr1:180697800-180698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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