Variant report

Variant	rs390421
Chromosome Location	chr5:52422689-52422690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52421415..52423217-chr5:52426040..52428120,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1374057	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152945	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs194218	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs251332	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254596	0.95[EUR][1000 genomes]
rs254606	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254607	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254608	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254609	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254611	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254613	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254615	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs254616	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs254626	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2547521	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2547523	0.95[EUR][1000 genomes]
rs2652545	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs30087	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30089	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30090	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30091	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30092	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs30095	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30096	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs30097	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34781824	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376850	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs402741	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448453	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7710432	0.93[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv880957	chr5:52418582-52443231	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52421000-52426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:52421800-52422800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:52421800-52423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:52421800-52423400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:52422000-52422800	Enhancers	NHLF	lung
6	chr5:52422000-52423000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52422000-52423000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:52422000-52423000	Enhancers	HSMM	muscle
9	chr5:52422000-52423000	Enhancers	NH-A	brain
10	chr5:52422000-52423000	Enhancers	NHEK	skin
11	chr5:52422000-52423200	Enhancers	NHDF-Ad	bronchial
12	chr5:52422000-52423200	Enhancers	Osteobl	bone
13	chr5:52422200-52422800	Enhancers	HSMMtube	muscle
14	chr5:52422200-52423000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:52422200-52423000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:52422200-52423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:52422200-52423000	Enhancers	HMEC	breast
18	chr5:52422200-52423400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:52422400-52422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:52422400-52422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:52422600-52423000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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