Variant report

Variant	rs2465610
Chromosome Location	chr12:47286557-47286558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2249315	0.88[AFR][1000 genomes]
rs2249841	0.97[AFR][1000 genomes]
rs2250202	0.93[AFR][1000 genomes]
rs2465203	0.91[AFR][1000 genomes]
rs2465642	0.97[AFR][1000 genomes]
rs2465643	0.97[AFR][1000 genomes]
rs2711696	0.91[AFR][1000 genomes]
rs2715780	0.88[AFR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47281000-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47284800-47286800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47284800-47287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:47284800-47287600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:47285200-47298400	Weak transcription	HSMM	muscle
6	chr12:47285400-47286600	Weak transcription	HSMMtube	muscle
7	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
8	chr12:47286000-47286600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:47286000-47286600	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:47286000-47287000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:47286000-47287400	Enhancers	Fetal Muscle Leg	muscle
12	chr12:47286000-47287600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:47286400-47286600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:47286400-47286600	Enhancers	Osteobl	bone
15	chr12:47286400-47286800	Active TSS	Skeletal Muscle Female	skeletal muscle

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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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