Variant report

Variant	rs12813857
Chromosome Location	chr12:47300328-47300329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12810051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12832186	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2249315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250202	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2465203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465611	0.81[EUR][1000 genomes]
rs2711696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2715780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34666797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34881657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35024790	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132156	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7310091	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs74082953	0.88[EUR][1000 genomes]
rs74082963	0.96[EUR][1000 genomes]
rs74082966	0.96[EUR][1000 genomes]
rs7980196	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv973062	chr12:47298309-47308954	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47298400-47302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:47299000-47302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:47299000-47302400	Weak transcription	HSMM	muscle
4	chr12:47299200-47301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:47299200-47301800	Weak transcription	Esophagus	oesophagus
6	chr12:47299200-47302400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:47299200-47302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:47299400-47301400	Weak transcription	NHEK	skin
9	chr12:47299400-47302400	Weak transcription	Osteobl	bone
10	chr12:47299600-47301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:47299600-47301400	Weak transcription	HMEC	breast
12	chr12:47299600-47301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:47299600-47301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:47299600-47302000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47299600-47302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:47299800-47301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:47299800-47302000	Weak transcription	NHDF-Ad	bronchial
18	chr12:47299800-47302200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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