Variant report

Variant	rs4548420
Chromosome Location	chr1:90799890-90799891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10801801	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12022847	0.89[ASN][1000 genomes]
rs35288412	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35895061	0.82[EUR][1000 genomes]
rs4418577	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4489539	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs4551580	0.87[ASN][1000 genomes]
rs4557956	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4564125	0.88[ASN][1000 genomes]
rs6662232	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6673769	0.87[ASN][1000 genomes]
rs6674478	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv524317	chr1:90729744-90836739	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv521123	chr1:90770566-90836739	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv870546	chr1:90783440-90816579	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv946081	chr1:90798607-90800972	Enhancers	n/a	n/a	inside rSNPs	n/a
5	esv3437711	chr1:90799514-90801712	Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90799400-90800000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:90799800-90800200	Enhancers	HUES6 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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