Variant report

Variant	rs73078007
Chromosome Location	chr3:53962683-53962684
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	chr3:53948403..53949984-chr3:53961058..53963082,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1020082	0.84[EUR][1000 genomes]
rs1134091	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12632292	0.83[EUR][1000 genomes]
rs17053568	0.82[EUR][1000 genomes]
rs17053590	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982171	0.84[EUR][1000 genomes]
rs2241806	0.83[EUR][1000 genomes]
rs2276843	0.84[EUR][1000 genomes]
rs2276844	0.84[EUR][1000 genomes]
rs2276845	0.84[EUR][1000 genomes]
rs2289203	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2304575	0.84[EUR][1000 genomes]
rs2304576	0.84[EUR][1000 genomes]
rs3733079	0.81[EUR][1000 genomes]
rs3733083	0.84[EUR][1000 genomes]
rs41292476	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4141606	0.83[EUR][1000 genomes]
rs45511795	0.83[EUR][1000 genomes]
rs4687594	0.83[EUR][1000 genomes]
rs4687756	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4687758	0.84[EUR][1000 genomes]
rs4687760	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55917919	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56743403	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57398949	0.84[EUR][1000 genomes]
rs62253003	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62253004	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62253005	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6445612	0.83[EUR][1000 genomes]
rs9840445	0.81[EUR][1000 genomes]
rs9849951	0.83[EUR][1000 genomes]
rs9850063	0.83[EUR][1000 genomes]
rs9880056	0.85[EUR][1000 genomes]
rs999515	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53961400-53962800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:53962200-53963000	Flanking Active TSS	Hela-S3	cervix
3	chr3:53962400-53963000	Enhancers	K562	blood

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