Variant report

Variant	rs56260961
Chromosome Location	chr2:12161252-12161253
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:27)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12464227	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12469736	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12471363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12475585	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12476249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28420399	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59609793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60195725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60873627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73915889	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73915899	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73915902	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918425	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918434	0.90[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12155000-12164000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:12157800-12163000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr2:12160400-12161600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:12160400-12161600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:12160600-12161800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr2:12160800-12161400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:12160800-12161600	ZNF genes & repeats	Fetal Lung	lung
8	chr2:12160800-12162600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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