Variant report

Variant	rs996634
Chromosome Location	chr21:28031227-28031228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11088005	0.90[EUR][1000 genomes]
rs1505943	0.88[EUR][1000 genomes]
rs1847862	0.90[EUR][1000 genomes]
rs2135306	0.88[EUR][1000 genomes]
rs2174535	0.88[EUR][1000 genomes]
rs2174536	0.88[EUR][1000 genomes]
rs2830320	0.86[EUR][1000 genomes]
rs2830321	0.88[EUR][1000 genomes]
rs2830322	0.88[EUR][1000 genomes]
rs2830323	0.90[EUR][1000 genomes]
rs2830324	0.90[EUR][1000 genomes]
rs2830326	0.90[EUR][1000 genomes]
rs2830327	0.90[EUR][1000 genomes]
rs2830329	0.90[EUR][1000 genomes]
rs2830347	0.86[EUR][1000 genomes]
rs2830348	0.87[EUR][1000 genomes]
rs4172	0.85[EUR][1000 genomes]
rs4817130	0.90[EUR][1000 genomes]
rs55689069	0.90[EUR][1000 genomes]
rs55708819	0.90[EUR][1000 genomes]
rs56250727	0.90[EUR][1000 genomes]
rs6516742	0.90[EUR][1000 genomes]
rs6516743	0.90[EUR][1000 genomes]
rs6516744	0.90[EUR][1000 genomes]
rs756166	0.90[EUR][1000 genomes]
rs996632	0.90[EUR][1000 genomes]
rs996633	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv544413	chr21:27942060-28065995	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28024600-28031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:28030000-28031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:28030800-28031800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:28030800-28033400	ZNF genes & repeats	Dnd41	blood
5	chr21:28031000-28032000	Enhancers	HMEC	breast
6	chr21:28031200-28032000	Enhancers	NHEK	skin

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Input of quick search could be:

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

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