Variant report

Variant	rs12818475
Chromosome Location	chr12:12460803-12460804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11833516	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835571	0.96[EUR][1000 genomes]
rs12811948	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35236494	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35397084	0.92[EUR][1000 genomes]
rs36094202	0.94[EUR][1000 genomes]
rs4763276	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763801	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763802	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831449	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7296114	0.96[EUR][1000 genomes]
rs9795632	0.85[AMR][1000 genomes];0.84[EUR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12459400-12469400	Enhancers	Liver	Liver
2	chr12:12460600-12462600	Enhancers	Fetal Intestine Small	intestine
3	chr12:12460600-12465800	Enhancers	HepG2	liver
4	chr12:12460800-12461800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr12:12460800-12461800	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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