Variant report

Variant	rs10785651
Chromosome Location	chr12:47446471-47446472
allele	C/T
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:16)

rs_ID	r²[population]
rs10881039	0.99[ASN][1000 genomes]
rs11183699	0.95[ASN][1000 genomes]
rs11183706	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183710	0.99[ASN][1000 genomes]
rs11183711	0.99[ASN][1000 genomes]
rs1989912	0.82[ASN][1000 genomes]
rs34142537	0.84[ASN][1000 genomes]
rs4768770	0.96[ASN][1000 genomes]
rs7134654	0.99[ASN][1000 genomes]
rs7305847	0.94[ASN][1000 genomes]
rs7956438	0.94[ASN][1000 genomes]
rs7957379	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7960974	0.83[ASN][1000 genomes]
rs7971310	0.94[ASN][1000 genomes]
rs7971796	0.94[ASN][1000 genomes]
rs7972871	0.93[ASN][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 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	chr12:47429400-47450000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47445000-47450400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:47446400-47447600	Weak transcription	K562	blood

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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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