Variant report

Variant	rs12128185
Chromosome Location	chr1:56009805-56009806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10493196	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs10789002	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10789003	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10789004	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10888931	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10888933	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10888934	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11206618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206620	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206622	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12044949	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12069408	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12086546	0.85[ASN][1000 genomes]
rs12401977	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1499658	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17112402	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1875068	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356103	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4339898	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927249	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61774741	0.81[ASN][1000 genomes]
rs72667832	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667838	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667846	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904602	0.82[JPT][hapmap]
rs9436973	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787362	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56005600-56010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56006200-56012400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:56007000-56011600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:56007200-56011600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:56008600-56011000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:56009400-56010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:56009400-56010400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:56009400-56010400	Weak transcription	HSMMtube	muscle
9	chr1:56009400-56010800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:56009400-56013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:56009600-56011200	Weak transcription	Osteobl	bone
12	chr1:56009600-56012600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:56009600-56012800	Weak transcription	NHDF-Ad	bronchial
14	chr1:56009800-56010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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