Variant report

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11206595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489644	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2867169	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs399610	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs411611	0.88[JPT][hapmap]
rs4926687	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6588560	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7529184	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008241	chr1:55922008-55972596	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55929000-55935200	Enhancers	NHDF-Ad	bronchial
2	chr1:55931000-55933800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:55931200-55933800	Weak transcription	Thymus	Thymus
4	chr1:55931200-55935800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:55931400-55935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:55931600-55932400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:55931600-55932800	Enhancers	Esophagus	oesophagus
8	chr1:55931600-55933200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:55931600-55935600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:55931800-55932400	Enhancers	Left Ventricle	heart
11	chr1:55931800-55932600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:55931800-55932600	Enhancers	HMEC	breast
13	chr1:55931800-55932800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:55931800-55932800	Enhancers	Ovary	ovary
15	chr1:55931800-55932800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:55931800-55932800	Enhancers	NHEK	skin
17	chr1:55931800-55933000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:55931800-55933200	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:55931800-55933400	Enhancers	NHLF	lung
20	chr1:55931800-55934000	Weak transcription	Fetal Thymus	thymus
21	chr1:55932000-55932800	Enhancers	HSMMtube	muscle
22	chr1:55932200-55932800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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