Variant report

Variant	rs74082966
Chromosome Location	chr12:47281075-47281076
allele	C/G
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:17)

rs_ID	r²[population]
rs12810051	0.96[EUR][1000 genomes]
rs12813857	0.96[EUR][1000 genomes]
rs12832186	0.94[EUR][1000 genomes]
rs2249315	0.96[EUR][1000 genomes]
rs2250202	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465203	0.96[EUR][1000 genomes]
rs2465611	0.85[EUR][1000 genomes]
rs2711696	0.96[EUR][1000 genomes]
rs2715780	0.96[EUR][1000 genomes]
rs34666797	0.94[EUR][1000 genomes]
rs34881657	0.94[EUR][1000 genomes]
rs35024790	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7132156	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7310091	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74082953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74082963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980196	0.88[AMR][1000 genomes];0.91[EUR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47279200-47286000	Weak transcription	Psoas Muscle	Psoas
2	chr12:47279400-47281200	Enhancers	Osteobl	bone
3	chr12:47279400-47282200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:47279600-47282000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:47279600-47282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:47279600-47282200	Enhancers	HSMM	muscle
7	chr12:47279800-47281200	Enhancers	NH-A	brain
8	chr12:47280200-47281200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:47280400-47281200	Enhancers	Hela-S3	cervix
10	chr12:47280400-47281200	Enhancers	HMEC	breast
11	chr12:47280400-47281200	Enhancers	HSMMtube	muscle
12	chr12:47280600-47281600	Enhancers	NHDF-Ad	bronchial
13	chr12:47281000-47284800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:47281000-47285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:47281000-47285000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:47281000-47286000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:47281000-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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