Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:42577335..42580605-chr5:42585374..42588343,3	K562	blood:
2	chr5:42554149..42555763-chr5:42579785..42581551,2	K562	blood:
3	chr5:42518684..42521037-chr5:42577892..42580696,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10941578	0.83[EUR][1000 genomes]
rs10941579	0.85[EUR][1000 genomes]
rs11739444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740415	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949751	0.86[EUR][1000 genomes]
rs11955075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516901	0.81[EUR][1000 genomes]
rs12521020	0.85[EUR][1000 genomes]
rs13176410	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943881	0.83[EUR][1000 genomes]
rs34374598	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34466913	0.82[EUR][1000 genomes]
rs34535288	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090794	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365846	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368736	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395642	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496716	0.95[EUR][1000 genomes]
rs4504390	0.83[EUR][1000 genomes]
rs55696942	0.86[EUR][1000 genomes]
rs61197005	0.88[EUR][1000 genomes]
rs6865492	0.90[EUR][1000 genomes]
rs6896667	0.95[EUR][1000 genomes]
rs7707913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712701	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714392	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735889	0.84[EUR][1000 genomes]
rs7736209	0.93[EUR][1000 genomes];1.00[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42568000-42581400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:42568000-42582200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:42568400-42581800	Weak transcription	Fetal Stomach	stomach
4	chr5:42568400-42582800	Weak transcription	Ovary	ovary
5	chr5:42571800-42581200	Weak transcription	Adipose Nuclei	Adipose
6	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
8	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
9	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:42573000-42581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:42573000-42582000	Weak transcription	Fetal Lung	lung
12	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
13	chr5:42576200-42581200	Enhancers	Liver	Liver
14	chr5:42579800-42580600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:42579800-42583000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:42580000-42581600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:42580000-42582000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:42580000-42583000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:42580000-42586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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