Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11712475	0.90[ASN][1000 genomes]
rs11716674	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11718407	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12489940	0.90[ASN][1000 genomes]
rs12493260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12493623	0.86[ASN][1000 genomes]
rs1449336	0.90[ASN][1000 genomes]
rs4076707	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4076709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4373100	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4408898	0.86[ASN][1000 genomes]
rs4428220	0.86[ASN][1000 genomes]
rs4428221	0.86[ASN][1000 genomes]
rs4927998	0.90[ASN][1000 genomes]
rs4928001	0.90[ASN][1000 genomes]
rs6445630	0.90[ASN][1000 genomes]
rs6809942	0.90[ASN][1000 genomes]
rs73085903	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7639142	0.86[ASN][1000 genomes]
rs9880023	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54200400-54214800	Weak transcription	Psoas Muscle	Psoas
2	chr3:54206400-54209800	Weak transcription	Hela-S3	cervix
3	chr3:54207800-54212200	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:54208400-54212400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:54208600-54213000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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