Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52839499..52841510-chr10:52846608..52849576,2	K562	blood:
2	chr10:52845255..52847999-chr10:52848856..52851821,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10822178	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10822190	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12355844	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2339628	0.81[EUR][1000 genomes]
rs2339673	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2339678	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2879523	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2879547	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4603249	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4935010	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4935011	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4935214	0.81[EUR][1000 genomes]
rs4935216	0.83[EUR][1000 genomes]
rs4935228	0.95[EUR][1000 genomes]
rs57114858	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7904024	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9414823	0.97[EUR][1000 genomes]
rs9415718	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9415721	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9415730	0.94[EUR][1000 genomes]
rs987633	0.83[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	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv895394	chr10:52793177-52866503	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52837200-52849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:52840400-52852200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr10:52843000-52849600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:52843600-52856200	Weak transcription	Aorta	Aorta
5	chr10:52844000-52848000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:52844000-52851800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:52844000-52852200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:52844000-52877200	Weak transcription	Fetal Stomach	stomach
9	chr10:52845400-52849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:52847400-52849600	Weak transcription	Colon Smooth Muscle	Colon

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