Variant report

Variant	rs12828712
Chromosome Location	chr12:63475233-63475234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1032494	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784329	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877951	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12227007	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12228037	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1495029	0.82[ASN][1000 genomes]
rs36108998	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs877898	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs949824	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs951359	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2751108	chr12:63445933-63503952	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63470200-63478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:63470800-63477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:63472800-63480400	Enhancers	Fetal Intestine Small	intestine
4	chr12:63473200-63478400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:63473400-63480600	Enhancers	Fetal Intestine Large	intestine
6	chr12:63474000-63479200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:63474200-63485800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:63474400-63477200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:63474400-63477600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:63474800-63477000	Weak transcription	Fetal Kidney	kidney
11	chr12:63475200-63477200	Weak transcription	Stomach Mucosa	stomach
12	chr12:63475200-63487200	Weak transcription	H1 BMP4 Derived Mesendoderm 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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