Variant report

Variant	rs73249308
Chromosome Location	chr20:16241734-16241735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6075037	0.82[ASN][1000 genomes]
rs6105559	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6110997	0.87[ASN][1000 genomes]
rs6135713	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv519621	chr20:16236837-16248453	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv516591	chr20:16238023-16248453	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3343292	chr20:16238552-16242750	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3416688	chr20:16239452-16241950	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16240200-16242800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:16240400-16243400	Weak transcription	Spleen	Spleen
3	chr20:16240600-16246200	Weak transcription	Gastric	stomach
4	chr20:16241200-16242200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr20:16241400-16242800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:16241400-16243800	Enhancers	K562	blood

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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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