Variant report

Variant	rs10881008
Chromosome Location	chr12:47285697-47285698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10881004	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10881009	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11183625	0.81[AMR][1000 genomes]
rs11183630	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11183643	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183644	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12229470	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1986584	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2263487	0.81[AMR][1000 genomes]
rs2465208	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2465210	0.81[AMR][1000 genomes]
rs2465211	0.81[AMR][1000 genomes]
rs3989940	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4374015	0.81[AMR][1000 genomes]
rs4495962	0.81[AMR][1000 genomes]
rs7137439	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7298017	0.81[AMR][1000 genomes]
rs7963326	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7976518	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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	chr12:47279200-47286000	Weak transcription	Psoas Muscle	Psoas
2	chr12:47281000-47286000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:47281000-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47284600-47286000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:47284800-47286800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:47284800-47287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:47284800-47287600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:47285000-47286400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:47285200-47298400	Weak transcription	HSMM	muscle
10	chr12:47285400-47286400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:47285400-47286400	Weak transcription	Osteobl	bone
12	chr12:47285400-47286600	Weak transcription	HSMMtube	muscle
13	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
14	chr12:47285600-47286000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:47285600-47286200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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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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