Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:43294226..43299346-chr3:43301138..43304009,5	K562	blood:
2	chr3:43286357..43288077-chr3:43294555..43297435,2	K562	blood:
3	chr3:43296454..43299346-chr3:43300698..43303972,3	K562	blood:

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

rs_ID	r²[population]
rs1316296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316297	0.98[EUR][1000 genomes]
rs1320156	0.98[EUR][1000 genomes]
rs17075342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17075378	0.98[EUR][1000 genomes]
rs17075381	0.98[EUR][1000 genomes]
rs17075398	0.98[EUR][1000 genomes]
rs1814902	0.95[EUR][1000 genomes]
rs2372355	0.98[EUR][1000 genomes]
rs4585168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682675	0.95[EUR][1000 genomes]
rs4682677	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682872	0.98[EUR][1000 genomes]
rs4682874	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682875	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682876	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682879	0.95[EUR][1000 genomes]
rs4683366	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4683367	0.98[EUR][1000 genomes]
rs4683369	0.98[EUR][1000 genomes]
rs7621511	0.98[EUR][1000 genomes]
rs9681394	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9683242	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9809273	0.98[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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
3	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
5	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
6	chr3:43294200-43300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:43296200-43297800	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:43296200-43300600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:43296400-43298800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:43296400-43298800	Enhancers	Lung	lung
11	chr3:43296400-43300000	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:43296600-43297400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:43296600-43299600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr3:43296800-43297200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:43296800-43297200	Weak transcription	Spleen	Spleen
18	chr3:43296800-43305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

Quick Search: