Variant report

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17561977	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830488	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2830498	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830508	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830511	0.86[EUR][1000 genomes]
rs2830528	0.93[ASN][1000 genomes]
rs4816292	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62215731	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs883567	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9647121	0.87[EUR][1000 genomes]
rs9981725	0.93[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2830499	GABPA	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28154000-28156000	Enhancers	Fetal Muscle Leg	muscle
2	chr21:28154000-28156000	Enhancers	Fetal Stomach	stomach
3	chr21:28154000-28156200	Enhancers	Rectal Smooth Muscle	rectum
4	chr21:28154000-28156200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr21:28154000-28157000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr21:28154200-28157400	Weak transcription	Psoas Muscle	Psoas
7	chr21:28154200-28161200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:28154800-28156400	Enhancers	HSMMtube	muscle
9	chr21:28154800-28157000	Enhancers	Fetal Heart	heart
10	chr21:28155000-28155800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:28155000-28156200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:28155000-28160800	Weak transcription	Aorta	Aorta
13	chr21:28155200-28158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28155200-28161200	Weak transcription	Adipose Nuclei	Adipose
15	chr21:28155400-28156000	Weak transcription	Ovary	ovary
16	chr21:28155600-28156200	Enhancers	Colon Smooth Muscle	Colon
17	chr21:28155600-28156800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:28155800-28156200	Enhancers	Stomach Smooth Muscle	stomach
19	chr21:28155800-28156400	Enhancers	Fetal Lung	lung
20	chr21:28155800-28157000	Enhancers	Osteobl	bone

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