Variant report

Variant	rs34774368
Chromosome Location	chr2:12139055-12139056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12478633	0.84[EUR][1000 genomes]
rs12478664	0.84[EUR][1000 genomes]
rs12478705	0.84[EUR][1000 genomes]
rs13012119	0.84[EUR][1000 genomes]
rs13025618	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16858133	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34424904	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35951700	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41378155	0.84[EUR][1000 genomes]
rs62113775	0.84[EUR][1000 genomes]
rs62113776	0.84[EUR][1000 genomes]
rs62116484	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71446446	0.85[AMR][1000 genomes];0.98[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:21 , 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	chr2:12138000-12139200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:12138000-12139600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:12138000-12139600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:12138000-12139600	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:12138000-12140200	Enhancers	HSMMtube	muscle
14	chr2:12138200-12139200	Enhancers	NHLF	lung
15	chr2:12138400-12139600	Enhancers	Fetal Muscle Leg	muscle
16	chr2:12138400-12139800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:12138400-12139800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:12138600-12139200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:12138600-12142000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:12139000-12144800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:12139000-12145200	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links