Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:46516225..46519087-chr3:46519462..46521207,2	K562	blood:
2	chr3:46518251..46521004-chr3:46521282..46522790,2	K562	blood:
3	chr3:46484352..46487691-chr3:46518831..46521127,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1814973	0.87[EUR][1000 genomes]
rs1879328	0.87[EUR][1000 genomes]
rs2888531	0.87[EUR][1000 genomes]
rs34334514	0.91[EUR][1000 genomes]
rs34504121	0.85[EUR][1000 genomes]
rs35714147	0.87[EUR][1000 genomes]
rs4521278	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4683241	0.87[EUR][1000 genomes]
rs4683242	0.91[EUR][1000 genomes]
rs4683243	0.87[EUR][1000 genomes]
rs55786118	0.87[EUR][1000 genomes]
rs59244195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60983021	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442000	0.96[EUR][1000 genomes]
rs67227548	0.87[EUR][1000 genomes]
rs6791941	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900270	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72900281	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7428292	0.85[EUR][1000 genomes]
rs867619	0.96[EUR][1000 genomes]
rs883738	0.96[EUR][1000 genomes]
rs883740	0.96[EUR][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:8 , 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	chr3:46514600-46519600	Weak transcription	Spleen	Spleen
5	chr3:46517000-46519800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr3:46519000-46519800	Weak transcription	Pancreas	Pancrea
7	chr3:46519000-46520200	Enhancers	Fetal Intestine Large	intestine
8	chr3:46519400-46520200	Enhancers	Fetal Intestine Small	intestine

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