Variant report

Variant	rs2465622
Chromosome Location	chr12:47309492-47309493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
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]
rs2465620	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: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:28 , 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	chr12:47308000-47311200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:47308200-47311400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:47308200-47311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47308400-47311400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:47308400-47311400	Enhancers	NHLF	lung
8	chr12:47308400-47311600	Enhancers	NHDF-Ad	bronchial
9	chr12:47308600-47309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:47308600-47309800	Weak transcription	Psoas Muscle	Psoas
11	chr12:47308600-47310600	Enhancers	HSMMtube	muscle
12	chr12:47308600-47311600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:47308800-47309600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr12:47308800-47311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47308800-47311400	Enhancers	Osteobl	bone
16	chr12:47309000-47310000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:47309000-47310200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:47309000-47310200	Enhancers	Fetal Lung	lung
19	chr12:47309200-47309800	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:47309200-47310000	Weak transcription	Fetal Stomach	stomach
21	chr12:47309200-47311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:47309200-47311200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:47309200-47311200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:47309200-47314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:47309400-47310000	Enhancers	HSMM	muscle
26	chr12:47309400-47310200	Enhancers	NH-A	brain
27	chr12:47309400-47310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:47309400-47310800	Weak transcription	HMEC	breast

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