Variant report

Variant	rs2594144
Chromosome Location	chr3:60805570-60805571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17064028	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17064029	1.00[CEU][hapmap]
rs2166814	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2205349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2364295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2364296	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594147	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594149	1.00[CHB][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2594150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594151	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2594152	0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2736738	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2736741	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56227671	0.95[EUR][1000 genomes]
rs56290432	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6793486	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534038	chr3:60781917-60993082	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757872	chr3:60781943-61019003	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:60800200-60807600	Weak transcription	Ovary	ovary
2	chr3:60803400-60809400	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:60803800-60809200	Weak transcription	Primary hematopoietic stem cells	blood

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