Variant report

Variant	rs72894554
Chromosome Location	chr1:47603980-47603981
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:45)

rs_ID	r²[population]
rs11211493	1.00[AMR][1000 genomes]
rs11211518	1.00[AMR][1000 genomes]
rs11488318	1.00[EUR][1000 genomes]
rs12057442	1.00[AMR][1000 genomes]
rs12061831	1.00[AMR][1000 genomes]
rs12085485	1.00[EUR][1000 genomes]
rs12092838	1.00[EUR][1000 genomes]
rs12094830	1.00[AMR][1000 genomes]
rs12096366	1.00[EUR][1000 genomes]
rs12097707	1.00[AMR][1000 genomes]
rs2088998	1.00[AMR][1000 genomes]
rs56311064	1.00[EUR][1000 genomes]
rs58846358	1.00[AMR][1000 genomes]
rs58921777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59550357	1.00[EUR][1000 genomes]
rs59984926	1.00[AMR][1000 genomes]
rs60589829	1.00[EUR][1000 genomes]
rs61502427	1.00[EUR][1000 genomes]
rs6682932	1.00[AMR][1000 genomes]
rs72890316	1.00[AMR][1000 genomes]
rs72892699	1.00[AMR][1000 genomes]
rs72894542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894556	1.00[AMR][1000 genomes]
rs72894561	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894566	1.00[AMR][1000 genomes]
rs72894575	1.00[EUR][1000 genomes]
rs72894577	1.00[AMR][1000 genomes]
rs72896510	1.00[AMR][1000 genomes]
rs72896513	1.00[AMR][1000 genomes]
rs74073558	1.00[EUR][1000 genomes]
rs74073585	1.00[EUR][1000 genomes]
rs74073742	1.00[EUR][1000 genomes]
rs74073791	1.00[EUR][1000 genomes]
rs74073793	1.00[EUR][1000 genomes]
rs74073879	1.00[EUR][1000 genomes]
rs74073880	1.00[EUR][1000 genomes]
rs74076309	1.00[EUR][1000 genomes]
rs74076312	1.00[EUR][1000 genomes]
rs74076314	1.00[EUR][1000 genomes]
rs74076315	1.00[EUR][1000 genomes]
rs74077366	1.00[EUR][1000 genomes]
rs7545862	1.00[AMR][1000 genomes]
rs8034132	1.00[AMR][1000 genomes]
rs9333021	1.00[EUR][1000 genomes]
rs9436428	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv945929	chr1:47578751-47617495	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 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	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:47603200-47604400	Active TSS	Liver	Liver
3	chr1:47603600-47604200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:47603600-47604800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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