Variant report

Variant	rs7278716
Chromosome Location	chr21:29018994-29018995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11701315	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11702066	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12482497	0.82[ASN][1000 genomes]
rs12482624	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12483350	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12483741	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16980990	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16981008	0.81[ASN][1000 genomes]
rs16981014	0.81[ASN][1000 genomes]
rs2831041	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2831042	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2831043	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2831044	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2831045	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2831048	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2831049	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2831050	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2831053	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4817183	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57688665	0.81[ASN][1000 genomes]
rs59946294	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs715684	0.82[EUR][1000 genomes]
rs7275935	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73384054	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73384056	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73384059	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73384066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73384078	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73384086	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73386055	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73386080	0.81[ASN][1000 genomes]
rs928273	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29016400-29019000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr21:29017400-29021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:29017600-29021200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr21:29017600-29022400	Enhancers	NHDF-Ad	bronchial
5	chr21:29017600-29022400	Enhancers	NHEK	skin
6	chr21:29017800-29020200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:29017800-29021800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:29017800-29022400	Enhancers	HMEC	breast
9	chr21:29018000-29019000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:29018000-29020000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:29018000-29020800	Weak transcription	NH-A	brain
12	chr21:29018000-29021200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:29018200-29019400	Weak transcription	Osteobl	bone
14	chr21:29018200-29019800	Weak transcription	HSMM	muscle
15	chr21:29018200-29021000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:29018600-29019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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