Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53674896..53676899-chr3:53679106..53681380,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12486415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12492502	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12493744	0.82[CHB][hapmap]
rs1460115	0.82[CEU][hapmap]
rs1872999	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1906537	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276836	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2680672	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs34078083	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3774515	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55819057	0.87[EUR][1000 genomes]
rs55948017	0.89[EUR][1000 genomes]
rs62251938	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6762231	0.87[CHB][hapmap]
rs6763245	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6765728	0.85[ASN][1000 genomes]
rs6793312	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6806330	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs735652	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7648561	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53666400-53681400	Weak transcription	Fetal Lung	lung
3	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:53678000-53681400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:53678000-53687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:53679200-53684400	Weak transcription	Fetal Brain Female	brain
8	chr3:53679800-53681600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:53679800-53681600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:53680400-53681000	Weak transcription	Fetal Kidney	kidney
11	chr3:53680800-53681000	Enhancers	GM12878-XiMat	blood
12	chr3:53680800-53681200	Weak transcription	Fetal Intestine Large	intestine
13	chr3:53680800-53681600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:53680800-53682400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr3:53680800-53683800	Weak transcription	Psoas Muscle	Psoas

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