Variant report

Variant	rs61826019
Chromosome Location	chr1:242100229-242100230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs28411913	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3863737	0.93[EUR][1000 genomes]
rs3908148	0.93[EUR][1000 genomes]
rs3908149	0.93[EUR][1000 genomes]
rs56205249	0.93[EUR][1000 genomes]
rs58149898	0.91[EUR][1000 genomes]
rs61826017	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61826018	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61826020	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61826021	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61826022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61826023	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61826025	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61826035	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61826036	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61826037	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61826042	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61826043	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61826044	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61826045	0.83[EUR][1000 genomes]
rs61826046	0.83[EUR][1000 genomes]
rs61826047	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:242097800-242102000	Weak transcription	Right Atrium	heart
2	chr1:242098600-242100800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:242100000-242100400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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