Variant report

Variant	rs56227417
Chromosome Location	chr15:58500956-58500957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11857136	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618701	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1663251	0.81[EUR][1000 genomes]
rs1663253	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1663254	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1663255	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2017566	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2414551	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4350519	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7180071	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[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	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2752813	chr15:58461006-58507064	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58496200-58501000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr15:58496400-58501000	Weak transcription	NH-A	brain
3	chr15:58496600-58501000	Weak transcription	Osteobl	bone
4	chr15:58496600-58501400	Weak transcription	HUVEC	blood vessel
5	chr15:58496600-58502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:58497000-58501000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:58497400-58501000	Weak transcription	NHLF	lung
8	chr15:58498000-58501000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:58499200-58503200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:58500400-58502200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:58500400-58502400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:58500400-58502800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:58500600-58502000	Enhancers	Right Atrium	heart
14	chr15:58500600-58502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:58500600-58502200	Enhancers	NHDF-Ad	bronchial
16	chr15:58500600-58502800	Enhancers	NHEK	skin
17	chr15:58500800-58501200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:58500800-58501200	Enhancers	Aorta	Aorta
19	chr15:58500800-58501200	Enhancers	Fetal Heart	heart
20	chr15:58500800-58502200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:58500800-58502400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:58500800-58502400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:58500800-58502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:58500800-58503000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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