Variant report

Variant	rs2823375
Chromosome Location	chr21:16932079-16932080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2065237	0.82[EUR][1000 genomes]
rs2142485	0.80[EUR][1000 genomes]
rs2242842	0.86[EUR][1000 genomes]
rs2242843	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs2242844	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2242845	0.82[EUR][1000 genomes]
rs2823376	0.96[EUR][1000 genomes]
rs6517486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517488	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6517490	1.00[CEU][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs7279322	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7282804	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8129285	0.98[EUR][1000 genomes]
rs8134968	0.84[EUR][1000 genomes]
rs9975051	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823375	BTG3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16931200-16932600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:16931200-16932800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16931400-16932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr21:16932000-16932400	Weak transcription	Fetal Intestine Large	intestine
5	chr21:16932000-16932800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr21:16932000-16932800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr21:16932000-16933000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:16932000-16933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:16932000-16934400	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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