Variant report

Variant	rs2263488
Chromosome Location	chr12:47303630-47303631
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:16)

rs_ID	r²[population]
rs2249841	0.82[AFR][1000 genomes]
rs2263489	0.96[AFR][1000 genomes]
rs2263490	0.97[AFR][1000 genomes]
rs2408637	1.00[AFR][1000 genomes]
rs2465200	0.96[AFR][1000 genomes]
rs2465590	0.97[AFR][1000 genomes]
rs2465600	0.97[AFR][1000 genomes]
rs2465619	0.97[AFR][1000 genomes]
rs2465620	0.97[AFR][1000 genomes]
rs2465622	0.97[AFR][1000 genomes]
rs2465633	0.97[AFR][1000 genomes]
rs2465636	0.97[AFR][1000 genomes]
rs2465642	0.82[AFR][1000 genomes]
rs2465643	0.82[AFR][1000 genomes]
rs2952970	1.00[AFR][1000 genomes]
rs2953359	1.00[AFR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47301400-47303800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47301400-47303800	Enhancers	HMEC	breast
3	chr12:47301600-47303800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47303000-47308000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:47303000-47311000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:47303200-47308400	Weak transcription	NHDF-Ad	bronchial
7	chr12:47303400-47303800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47303600-47305000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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