Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46518251..46521004-chr3:46521282..46522790,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1520484	0.91[ASN][1000 genomes]
rs1814973	0.87[EUR][1000 genomes]
rs1879328	0.87[EUR][1000 genomes]
rs2888531	0.87[EUR][1000 genomes]
rs34306326	0.89[AFR][1000 genomes]
rs34334514	0.91[EUR][1000 genomes]
rs34504121	0.85[EUR][1000 genomes]
rs35714147	0.87[EUR][1000 genomes]
rs4521278	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4683241	0.87[EUR][1000 genomes]
rs4683242	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4683243	0.87[EUR][1000 genomes]
rs55786118	0.87[EUR][1000 genomes]
rs59244195	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60983021	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442000	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67227548	0.87[EUR][1000 genomes]
rs72900270	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72900281	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7428292	0.85[EUR][1000 genomes]
rs7643332	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs867619	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs883738	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs883740	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46507400-46522400	Weak transcription	Gastric	stomach
2	chr3:46511800-46530200	Weak transcription	Right Atrium	heart
3	chr3:46513400-46525800	Weak transcription	Left Ventricle	heart
4	chr3:46520400-46523600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:46520800-46522400	Weak transcription	Pancreas	Pancrea
6	chr3:46520800-46523000	Enhancers	Brain Hippocampus Middle	brain
7	chr3:46521400-46522600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:46521400-46523000	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:46521400-46523400	Enhancers	Brain Substantia Nigra	brain
10	chr3:46521600-46522800	Enhancers	Brain Anterior Caudate	brain
11	chr3:46521800-46522800	Enhancers	Brain Angular Gyrus	brain
12	chr3:46521800-46522800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:46521800-46522800	Enhancers	Spleen	Spleen
14	chr3:46521800-46523200	Enhancers	Fetal Intestine Large	intestine
15	chr3:46521800-46524400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:46522000-46523200	Enhancers	Fetal Intestine Small	intestine

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