Variant report

Variant	rs41378546
Chromosome Location	chr21:37878964-37878965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10483034	1.00[MEX][hapmap]
rs11909629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6517358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7278181	0.82[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37858600-37881600	Weak transcription	Right Atrium	heart
2	chr21:37860600-37882200	Weak transcription	HUVEC	blood vessel
3	chr21:37872400-37881400	Weak transcription	Esophagus	oesophagus
4	chr21:37872600-37880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:37873600-37880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:37877200-37880200	Weak transcription	Fetal Kidney	kidney
7	chr21:37877400-37881000	Enhancers	GM12878-XiMat	blood
8	chr21:37878000-37880800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:37878000-37881000	Weak transcription	Placenta	Placenta
10	chr21:37878400-37879200	Enhancers	HepG2	liver
11	chr21:37878600-37880200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:37878800-37882200	Weak transcription	Fetal Lung	lung

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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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