Variant report

Variant	rs1348795
Chromosome Location	chr8:117903341-117903342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1348798	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1374295	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020117	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020129	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4570	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824338	0.91[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1348795	RAD21	cis	multi-tissue	Pritchard

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117901200-117903600	Enhancers	HepG2	liver
2	chr8:117901200-117903800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:117902000-117903400	Flanking Active TSS	Dnd41	blood
4	chr8:117902000-117903800	Enhancers	Ovary	ovary
5	chr8:117902000-117903800	Flanking Active TSS	Hela-S3	cervix
6	chr8:117902000-117904000	Enhancers	Fetal Lung	lung
7	chr8:117902400-117903400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:117902400-117903400	Enhancers	HSMMtube	muscle
9	chr8:117902400-117903800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:117902600-117903400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:117902800-117903400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:117902800-117903400	Enhancers	Fetal Thymus	thymus
13	chr8:117903000-117903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:117903000-117903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:117903000-117903400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr8:117903000-117903400	Enhancers	Rectal Smooth Muscle	rectum
17	chr8:117903000-117903400	Enhancers	NHDF-Ad	bronchial
18	chr8:117903200-117903400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:117903200-117903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:117903200-117903600	Enhancers	Osteobl	bone
21	chr8:117903200-117903800	Enhancers	Fetal Stomach	stomach
22	chr8:117903200-117904400	Weak transcription	HMEC	breast
23	chr8:117903200-117905800	Weak transcription	NHLF	lung

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