Variant report

Variant	rs12231562
Chromosome Location	chr12:30610021-30610022
allele	A/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]
rs10734788	0.84[ASN][1000 genomes]
rs10771718	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10771720	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10771724	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10843752	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10843754	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11050891	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11050908	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1506369	0.91[ASN][1000 genomes]
rs1588005	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1605238	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4931337	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30609800-30610400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:30609800-30610400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:30609800-30610600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:30609800-30610600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:30609800-30610600	Enhancers	Osteobl	bone
6	chr12:30609800-30611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:30609800-30611000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:30609800-30611000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:30610000-30610600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:30610000-30610600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:30610000-30610800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:30610000-30610800	Enhancers	HMEC	breast
13	chr12:30610000-30611000	Enhancers	HSMMtube	muscle

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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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