Variant report

Variant	rs12469736
Chromosome Location	chr2:12139279-12139280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472165	1.00[ASN][1000 genomes]
rs12475585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478633	1.00[ASN][1000 genomes]
rs12478664	1.00[ASN][1000 genomes]
rs12478705	1.00[ASN][1000 genomes]
rs12991902	1.00[ASN][1000 genomes]
rs28420399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506780	1.00[ASN][1000 genomes]
rs34819724	1.00[ASN][1000 genomes]
rs34900642	1.00[ASN][1000 genomes]
rs35954069	1.00[ASN][1000 genomes]
rs41378155	1.00[ASN][1000 genomes]
rs56260961	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58143595	1.00[ASN][1000 genomes]
rs59609793	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60195725	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60510807	1.00[ASN][1000 genomes]
rs60873627	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708806	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715248	1.00[ASN][1000 genomes]
rs6715988	1.00[ASN][1000 genomes]
rs71446438	1.00[ASN][1000 genomes]
rs73915889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918415	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918416	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918422	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918423	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918424	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918425	1.00[AMR][1000 genomes]
rs73918426	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918427	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918432	1.00[AMR][1000 genomes];0.83[EUR][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12134800-12139800	Enhancers	NHDF-Ad	bronchial
2	chr2:12135200-12139600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:12135200-12139800	Enhancers	HSMM	muscle
4	chr2:12135400-12139400	Enhancers	Osteobl	bone
5	chr2:12136400-12139400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:12136800-12139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:12137200-12148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:12137400-12140200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:12138000-12139600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:12138000-12139600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:12138000-12139600	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:12138000-12140200	Enhancers	HSMMtube	muscle
13	chr2:12138400-12139600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:12138400-12139800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:12138400-12139800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:12138600-12142000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:12139000-12144800	Weak transcription	Primary T cells from cord blood	blood
18	chr2:12139000-12145200	Weak transcription	HUVEC	blood vessel
19	chr2:12139200-12146200	Weak transcription	NHLF	lung

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