Variant report

Variant	rs12675012
Chromosome Location	chr8:104275883-104275884
allele	C/T
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:15)

rs_ID	r²[population]
rs12156164	0.94[AMR][1000 genomes]
rs12680121	0.84[EUR][1000 genomes]
rs1389689	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1494279	0.94[AMR][1000 genomes]
rs1608184	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16870276	0.94[AMR][1000 genomes]
rs62525463	0.94[AMR][1000 genomes]
rs62525466	0.94[AMR][1000 genomes]
rs62525469	0.94[AMR][1000 genomes]
rs62525470	0.94[AMR][1000 genomes]
rs62528473	0.94[AMR][1000 genomes]
rs62528474	0.94[AMR][1000 genomes]
rs62528478	0.94[AMR][1000 genomes]
rs7815503	0.94[AMR][1000 genomes]
rs7841861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
2	chr8:104268200-104283400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:104268800-104281200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:104269000-104283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104269800-104283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:104269800-104283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:104274600-104276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:104275200-104276000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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