Variant report

Variant	rs1322924
Chromosome Location	chr1:78939021-78939022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11162497	0.93[EUR][1000 genomes]
rs11809460	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11809462	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12067110	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12073698	0.93[EUR][1000 genomes]
rs12074558	0.93[EUR][1000 genomes]
rs12074955	0.93[EUR][1000 genomes]
rs12075295	0.87[EUR][1000 genomes]
rs12076694	0.81[EUR][1000 genomes]
rs12077792	0.87[EUR][1000 genomes]
rs12079105	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12085484	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12088784	0.93[EUR][1000 genomes]
rs1927326	1.00[CEU][hapmap]
rs28791033	0.93[EUR][1000 genomes]
rs57205467	0.93[EUR][1000 genomes]
rs58034089	0.87[EUR][1000 genomes]
rs58858806	0.93[EUR][1000 genomes]
rs60047746	0.87[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78937200-78939200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:78937200-78939600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:78937200-78939600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:78937200-78939800	Enhancers	Hela-S3	cervix
5	chr1:78937400-78949600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:78937600-78942600	Enhancers	Liver	Liver
7	chr1:78937800-78939400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:78937800-78939600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:78938400-78939400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:78938400-78941600	Weak transcription	NHDF-Ad	bronchial
11	chr1:78939000-78939200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:78939000-78939200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:78939000-78939400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:78939000-78941800	Weak transcription	Osteobl	bone

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