Variant report

Variant	rs16999285
Chromosome Location	chr21:41459288-41459289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999158	1.00[EUR][1000 genomes]
rs16999304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999311	1.00[EUR][1000 genomes]
rs16999325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837325	1.00[EUR][1000 genomes]
rs56089630	1.00[EUR][1000 genomes]
rs73908404	1.00[EUR][1000 genomes]
rs73908405	1.00[EUR][1000 genomes]
rs8131288	1.00[EUR][1000 genomes]
rs8133011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv587488	chr21:41452034-41477207	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41443000-41460000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:41444000-41460400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:41446000-41470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:41447800-41473600	Weak transcription	Brain Angular Gyrus	brain
5	chr21:41451600-41461400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:41452000-41465800	Weak transcription	Fetal Brain Female	brain
7	chr21:41453200-41467000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:41454400-41462400	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:41455000-41468000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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