Variant report

Variant	rs58287229
Chromosome Location	chr2:111478640-111478641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111474993..111476670-chr2:111477962..111480362,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56238232	1.00[AMR][1000 genomes]
rs57934984	1.00[AMR][1000 genomes]
rs58796451	1.00[AMR][1000 genomes]
rs73954652	1.00[AMR][1000 genomes]
rs73954653	1.00[AMR][1000 genomes]
rs73954660	1.00[AMR][1000 genomes]
rs73956442	1.00[AMR][1000 genomes]
rs73956443	1.00[AMR][1000 genomes]
rs73956445	1.00[AMR][1000 genomes]
rs73956446	1.00[AMR][1000 genomes]
rs73956448	1.00[AMR][1000 genomes]
rs73956449	1.00[AMR][1000 genomes]
rs73956450	1.00[AMR][1000 genomes]
rs73956451	1.00[AMR][1000 genomes]
rs73956453	1.00[AMR][1000 genomes]
rs73956454	1.00[AMR][1000 genomes]
rs73956455	1.00[AMR][1000 genomes]
rs73956457	1.00[AMR][1000 genomes]
rs73956458	1.00[AMR][1000 genomes]
rs73956459	1.00[AMR][1000 genomes]
rs73956460	1.00[AMR][1000 genomes]
rs73956461	1.00[AMR][1000 genomes]
rs73956462	1.00[AMR][1000 genomes]
rs73956463	1.00[AMR][1000 genomes]
rs73956467	1.00[AMR][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	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111475200-111479600	Weak transcription	Aorta	Aorta
2	chr2:111475800-111481000	Weak transcription	GM12878-XiMat	blood
3	chr2:111478400-111483800	Weak transcription	Placenta	Placenta
4	chr2:111478400-111490000	Weak transcription	Right Atrium	heart

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