Variant report

Variant	rs72954733
Chromosome Location	chr3:119941726-119941727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119940279..119942272-chr3:119945684..119947865,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs57147159	1.00[AMR][1000 genomes]
rs60282320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6802912	1.00[AMR][1000 genomes]
rs72952818	1.00[AMR][1000 genomes]
rs72952850	1.00[AMR][1000 genomes]
rs72952852	1.00[AMR][1000 genomes]
rs72952863	1.00[AMR][1000 genomes]
rs72952877	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952884	1.00[AMR][1000 genomes]
rs72954705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954727	1.00[AMR][1000 genomes]
rs72954750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954784	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969151	1.00[AMR][1000 genomes]
rs72969159	1.00[AMR][1000 genomes]
rs72969184	1.00[AMR][1000 genomes]
rs72969194	1.00[AMR][1000 genomes]
rs72971030	1.00[AMR][1000 genomes]
rs72971057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	esv6870	chr3:119941712-119941871	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119933000-119943200	Weak transcription	Psoas Muscle	Psoas
2	chr3:119934000-119943000	Weak transcription	Hela-S3	cervix
3	chr3:119934200-119942800	Weak transcription	Fetal Brain Male	brain
4	chr3:119941600-119942000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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