Variant report

Variant	rs73286069
Chromosome Location	chr12:47331861-47331862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11183659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312374	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2715771	0.97[ASN][1000 genomes]
rs4768766	1.00[ASN][1000 genomes]
rs7305185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286093	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74082948	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:47328200-47332000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:47331000-47332400	Enhancers	HSMM	muscle
3	chr12:47331600-47332000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:47331600-47332200	Flanking Active TSS	Liver	Liver
5	chr12:47331600-47332600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47331600-47332600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:47331600-47332800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:47331600-47333000	Enhancers	HepG2	liver
9	chr12:47331800-47332000	Flanking Active TSS	NHEK	skin
10	chr12:47331800-47332400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:47331800-47332400	Enhancers	A549	lung
12	chr12:47331800-47332400	Enhancers	HMEC	breast
13	chr12:47331800-47332600	Enhancers	Muscle Satellite Cultured Cells	--

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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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