Variant report

Variant	rs73901212
Chromosome Location	chr21:28718066-28718067
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:14)

rs_ID	r²[population]
rs16980441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16980442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16980444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59859616	1.00[ASN][1000 genomes]
rs6516764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6516765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6516766	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901217	1.00[ASN][1000 genomes]
rs8130161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975779	1.00[ASN][1000 genomes]
rs9980274	1.00[ASN][1000 genomes]
rs9981481	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1831608	chr21:28659037-28738059	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28712600-28718400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:28713800-28718800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28717200-28718400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:28717800-28719200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:28718000-28718600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:28718000-28719200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28718000-28719200	Enhancers	HSMM	muscle
8	chr21:28718000-28719200	Enhancers	NHDF-Ad	bronchial
9	chr21:28718000-28719200	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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