Variant report

Variant	rs994686
Chromosome Location	chr21:28939827-28939828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11910375	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11910943	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2054202	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2125210	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2831011	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2831021	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28419488	0.85[EUR][1000 genomes]
rs28697177	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7280282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs885490	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9975408	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9976827	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9982999	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv587346	chr21:28921690-28942922	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv587347	chr21:28930833-28951567	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv913669	chr21:28932087-28981553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28934000-28941800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:28934600-28941200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28937600-28942200	Weak transcription	Fetal Lung	lung
4	chr21:28938000-28940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:28938000-28941000	Weak transcription	HSMM	muscle
6	chr21:28938000-28941200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28938000-28941200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:28938000-28941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:28938000-28941200	Weak transcription	HSMMtube	muscle
10	chr21:28938000-28941800	Weak transcription	NHLF	lung
11	chr21:28938000-28942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:28938400-28941800	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:28939200-28940800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:28939200-28941000	Weak transcription	Osteobl	bone
15	chr21:28939200-28941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:28939200-28942400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:28939600-28941200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:28939600-28941800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:28939800-28940200	Bivalent Enhancer	Fetal Kidney	kidney
20	chr21:28939800-28940400	Enhancers	NHDF-Ad	bronchial
21	chr21:28939800-28941200	Weak transcription	NHEK	skin

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