Variant report

Variant	rs2465620
Chromosome Location	chr12:47308938-47308939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11837080	1.00[AMR][1000 genomes]
rs2263488	0.97[AFR][1000 genomes]
rs2263489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2263490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2408637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465200	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2465636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2952970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2953359	0.97[AFR][1000 genomes];1.00[AMR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47303000-47311000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:47304000-47311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:47308000-47309000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:47308000-47311200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:47308200-47311400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:47308200-47311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:47308400-47311400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:47308400-47311400	Enhancers	NHLF	lung
9	chr12:47308400-47311600	Enhancers	NHDF-Ad	bronchial
10	chr12:47308600-47309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:47308600-47309800	Weak transcription	Psoas Muscle	Psoas
12	chr12:47308600-47310600	Enhancers	HSMMtube	muscle
13	chr12:47308600-47311600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47308800-47309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:47308800-47309600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:47308800-47311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:47308800-47311400	Enhancers	Osteobl	bone

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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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