Variant report

Variant	rs6048250
Chromosome Location	chr20:22661210-22661211
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1011104	1.00[EUR][1000 genomes]
rs11907127	1.00[EUR][1000 genomes]
rs1999861	1.00[EUR][1000 genomes]
rs57880938	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58191632	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59162037	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036174	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048248	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6048256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048265	1.00[EUR][1000 genomes]
rs6113765	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61733821	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72470562	1.00[EUR][1000 genomes]
rs73306740	1.00[EUR][1000 genomes]
rs73608964	1.00[EUR][1000 genomes]
rs73608965	1.00[EUR][1000 genomes]
rs73608966	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22645600-22664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22656400-22662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:22660000-22661800	Bivalent Enhancer	HepG2	liver
4	chr20:22660000-22667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:22660200-22669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:22660800-22661600	Enhancers	Pancreas	Pancrea
7	chr20:22660800-22661600	Enhancers	A549	lung

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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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