Variant report

Variant	rs56204564
Chromosome Location	chr12:44796585-44796586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11182486	1.00[EUR][1000 genomes]
rs12311228	1.00[EUR][1000 genomes]
rs17094610	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094647	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094740	1.00[ASN][1000 genomes]
rs17121326	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17121761	1.00[ASN][1000 genomes]
rs57115451	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57549971	1.00[ASN][1000 genomes]
rs74085040	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74085082	0.84[ASN][1000 genomes]
rs751921	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44792600-44796600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:44796400-44796800	Enhancers	Duodenum Mucosa	Duodenum

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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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