Variant report

Variant	rs2027247
Chromosome Location	chr13:38530019-38530020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11839420	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1415605	0.90[ASN][1000 genomes]
rs1556784	0.85[ASN][1000 genomes]
rs1591673	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1974265	0.87[ASN][1000 genomes]
rs2068891	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4943549	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4943553	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7336536	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7996872	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9532133	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9532138	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9548105	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9548106	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9548113	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576403	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38528800-38531200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38529800-38530200	Weak transcription	HMEC	breast
3	chr13:38529800-38530200	Weak transcription	NHEK	skin

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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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