Variant report

Variant	rs12085484
Chromosome Location	chr1:78939670-78939671
allele	C/T
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:24)

rs_ID	r²[population]
rs11162496	1.00[AMR][1000 genomes]
rs11162497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11485266	1.00[AMR][1000 genomes]
rs11809460	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11809462	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12067110	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12073698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075295	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12076694	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12077792	0.93[EUR][1000 genomes]
rs12079105	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12088784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322924	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1927326	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs28791033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57205467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58034089	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58858806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59584643	1.00[AMR][1000 genomes]
rs60047746	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61388935	0.80[EUR][1000 genomes]
rs7533564	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78937200-78939800	Enhancers	Hela-S3	cervix
2	chr1:78937400-78949600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:78937600-78942600	Enhancers	Liver	Liver
4	chr1:78938400-78941600	Weak transcription	NHDF-Ad	bronchial
5	chr1:78939000-78941800	Weak transcription	Osteobl	bone
6	chr1:78939200-78941400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:78939200-78941400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:78939400-78941400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:78939400-78942200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:78939600-78941400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:78939600-78941600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:78939600-78941800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:78939600-78943200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links