Variant report

Variant	rs56769899
Chromosome Location	chr2:55719332-55719333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55716556..55719523-chr2:55721485..55723403,3	K562	blood:
2	chr2:55716556..55719523-chr2:55720351..55723403,5	K562	blood:
3	chr2:55714333..55716529-chr2:55717522..55719586,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10496043	1.00[ASN][1000 genomes]
rs10496047	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470253	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471135	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12472098	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12476169	1.00[ASN][1000 genomes]
rs1454426	0.83[EUR][1000 genomes]
rs1579780	1.00[ASN][1000 genomes]
rs17737937	1.00[ASN][1000 genomes]
rs17792798	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17792822	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17800851	1.00[ASN][1000 genomes]
rs41281507	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671251	1.00[ASN][1000 genomes]
rs4672053	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4672057	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672059	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672060	1.00[ASN][1000 genomes]
rs55850643	0.83[EUR][1000 genomes]
rs55919620	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55987004	0.84[EUR][1000 genomes]
rs56071955	1.00[ASN][1000 genomes]
rs56227318	0.88[EUR][1000 genomes]
rs56286204	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299972	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60312537	0.83[EUR][1000 genomes]
rs6741902	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752098	0.83[EUR][1000 genomes]
rs7600034	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr2:55717800-55720000	Enhancers	Brain Germinal Matrix	brain
2	chr2:55718000-55720200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:55718000-55720200	Weak transcription	NHEK	skin
4	chr2:55718600-55726800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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