Variant report

Variant	rs8130049
Chromosome Location	chr21:37891861-37891862
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11088351	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1124801	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11701001	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13052197	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2012586	0.83[ASN][1000 genomes]
rs2187301	0.83[ASN][1000 genomes]
rs2298451	0.83[ASN][1000 genomes]
rs2409820	0.82[ASN][1000 genomes]
rs2835367	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2835368	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2835369	0.83[ASN][1000 genomes]
rs2835370	0.83[ASN][1000 genomes]
rs2835371	0.88[ASN][1000 genomes]
rs2835373	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2835374	0.83[ASN][1000 genomes]
rs2835375	0.83[ASN][1000 genomes]
rs2835376	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2835377	0.83[ASN][1000 genomes]
rs4816538	0.83[ASN][1000 genomes]
rs4817804	0.83[ASN][1000 genomes]
rs4817805	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5027467	0.82[ASN][1000 genomes]
rs6517354	0.81[ASN][1000 genomes]
rs7278261	0.82[ASN][1000 genomes]
rs7279532	0.82[ASN][1000 genomes]
rs8127112	0.84[ASN][1000 genomes]
rs8127879	0.83[ASN][1000 genomes]
rs915750	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9305585	0.83[ASN][1000 genomes]
rs9305586	0.83[ASN][1000 genomes]
rs9305587	0.82[ASN][1000 genomes]
rs9974188	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9979731	0.81[ASN][1000 genomes]
rs9981161	0.81[ASN][1000 genomes]
rs9982353	0.83[ASN][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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37883200-37895000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:37890000-37892400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:37891200-37895000	Weak transcription	Fetal Kidney	kidney
4	chr21:37891800-37892000	Enhancers	Primary B cells from cord blood	blood
5	chr21:37891800-37892000	Weak transcription	GM12878-XiMat	blood

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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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