Variant report

Variant	rs17039747
Chromosome Location	chr2:50293338-50293339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10490236	1.00[EUR][1000 genomes]
rs1452774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17039730	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17039734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17039753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17039795	1.00[EUR][1000 genomes]
rs2123386	1.00[EUR][1000 genomes]
rs56088150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57045869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58018074	1.00[EUR][1000 genomes]
rs58499876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58756415	1.00[EUR][1000 genomes]
rs58855276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58906199	1.00[EUR][1000 genomes]
rs59158661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59497317	1.00[EUR][1000 genomes]
rs59617610	1.00[AMR][1000 genomes]
rs59760564	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60703382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61418384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889514	1.00[EUR][1000 genomes]
rs72889520	1.00[EUR][1000 genomes]
rs72889535	1.00[EUR][1000 genomes]
rs72889541	1.00[EUR][1000 genomes]
rs72889543	1.00[EUR][1000 genomes]
rs72889545	1.00[EUR][1000 genomes]
rs72889546	1.00[EUR][1000 genomes]
rs72889550	1.00[EUR][1000 genomes]
rs72889551	1.00[EUR][1000 genomes]
rs72889556	1.00[EUR][1000 genomes]
rs73932903	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932914	1.00[EUR][1000 genomes]
rs73932915	1.00[EUR][1000 genomes]
rs73932919	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932925	1.00[EUR][1000 genomes]
rs73932932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932938	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50292000-50293600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:50292400-50293600	Flanking Active TSS	Fetal Heart	heart
3	chr2:50292800-50293600	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:50293000-50293400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:50293000-50293400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:50293000-50296600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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