Variant report

Variant	rs6048248
Chromosome Location	chr20:22659561-22659562
allele	A/G
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	1.00[EUR][1000 genomes]
rs58191632	1.00[EUR][1000 genomes]
rs59162037	1.00[EUR][1000 genomes]
rs6036174	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6048250	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6048256	1.00[EUR][1000 genomes]
rs6048265	1.00[EUR][1000 genomes]
rs6113765	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61733821	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:4 , 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	chr20:22659200-22660200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22659400-22660000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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