Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46508156..46510225-chr3:46511342..46513592,2	K562	blood:
2	chr3:46504252..46506096-chr3:46508837..46511050,2	K562	blood:

Variant related genes	Relation type
ENSG00000012223	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17078863	1.00[CEU][hapmap]
rs17078878	1.00[CEU][hapmap]
rs1814973	0.82[EUR][1000 genomes]
rs1879328	1.00[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2888531	0.82[EUR][1000 genomes]
rs34504121	0.80[EUR][1000 genomes]
rs35714147	0.82[EUR][1000 genomes]
rs4683235	1.00[CEU][hapmap]
rs4683241	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs4683242	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs4683243	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs55786118	0.82[EUR][1000 genomes]
rs59244195	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60983021	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6442000	0.83[EUR][1000 genomes]
rs67227548	0.82[EUR][1000 genomes]
rs6774189	0.92[TSI][hapmap]
rs6776621	1.00[CEU][hapmap]
rs6791941	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72900270	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72900281	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7428292	0.80[EUR][1000 genomes]
rs7629657	1.00[CEU][hapmap]
rs7643332	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs867619	1.00[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs883738	0.83[EUR][1000 genomes]
rs883740	1.00[CEU][hapmap];0.92[TSI][hapmap];0.83[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46506800-46509600	Weak transcription	Right Atrium	heart
2	chr3:46506800-46510800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr3:46507000-46509600	Weak transcription	Right Ventricle	heart
4	chr3:46507400-46522400	Weak transcription	Gastric	stomach
5	chr3:46507600-46514200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:46507800-46513400	Enhancers	Left Ventricle	heart
7	chr3:46508200-46511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:46508200-46511400	Weak transcription	Lung	lung
9	chr3:46508400-46509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:46508600-46510200	Weak transcription	Primary B cells from cord blood	blood
11	chr3:46508600-46510800	Weak transcription	Pancreas	Pancrea
12	chr3:46508800-46509200	Weak transcription	Psoas Muscle	Psoas
13	chr3:46509000-46510600	Weak transcription	Adipose Nuclei	Adipose
14	chr3:46509000-46511200	Weak transcription	Spleen	Spleen

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