Variant report

Variant	rs2054202
Chromosome Location	chr21:28958436-28958437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11910375	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11910943	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2125210	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2831011	0.86[AMR][1000 genomes];0.94[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	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs885490	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs994686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9975408	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9976827	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9982999	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28952400-28962200	Weak transcription	HSMM	muscle
2	chr21:28954800-28959200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28955400-28962600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:28956400-28962600	Weak transcription	Psoas Muscle	Psoas
5	chr21:28956600-28959400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr21:28957200-28962200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:28957200-28962600	Weak transcription	Fetal Muscle Leg	muscle
8	chr21:28958000-28959200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28958200-28958600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:28958200-28958800	Enhancers	NHDF-Ad	bronchial
11	chr21:28958200-28959200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:28958200-28959200	Enhancers	Osteobl	bone
13	chr21:28958400-28958800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:28958400-28958800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:28958400-28958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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