Variant report

Variant	rs2242842
Chromosome Location	chr21:16931537-16931538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11700593	0.80[EUR][1000 genomes]
rs11701443	0.84[EUR][1000 genomes]
rs2242839	0.80[EUR][1000 genomes]
rs2242843	0.84[EUR][1000 genomes]
rs2242844	0.84[EUR][1000 genomes]
rs2823368	0.80[EUR][1000 genomes]
rs2823374	0.81[EUR][1000 genomes]
rs2823375	0.86[EUR][1000 genomes]
rs2823376	0.85[EUR][1000 genomes]
rs34369299	0.80[EUR][1000 genomes]
rs4817969	0.80[EUR][1000 genomes]
rs4817970	0.80[EUR][1000 genomes]
rs4817971	0.80[EUR][1000 genomes]
rs6517486	0.86[EUR][1000 genomes]
rs6517488	0.84[EUR][1000 genomes]
rs6517490	0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs7276904	0.80[EUR][1000 genomes]
rs7279322	0.84[EUR][1000 genomes]
rs7282804	0.84[EUR][1000 genomes]
rs8129285	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9975051	0.84[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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16931200-16932000	Enhancers	Fetal Intestine Large	intestine
2	chr21:16931200-16932600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:16931200-16932800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:16931400-16932600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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

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