Variant report

Variant	rs56032632
Chromosome Location	chr12:105703660-105703661
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:14)

rs_ID	r²[population]
rs11831950	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11836865	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1469663	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1469665	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1864892	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4964131	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4964132	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964359	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56130330	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66467637	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67114583	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67454169	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73181867	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73181871	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3394212	chr12:105693734-105708035	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	esv3358347	chr12:105693757-105707693	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105692200-105708000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:105695400-105708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:105695800-105709200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:105696200-105709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:105700000-105704000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:105701800-105709400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105702200-105704200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105702600-105704000	Weak transcription	Stomach Mucosa	stomach
9	chr12:105702600-105706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105702600-105709400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:105703000-105704000	Enhancers	HepG2	liver
12	chr12:105703200-105704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:105703600-105704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:105703600-105704200	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:105703600-105705200	Enhancers	Liver	Liver
16	chr12:105703600-105705200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:105703600-105705400	Enhancers	A549	lung

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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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