Variant report

Variant	rs7081986
Chromosome Location	chr10:90807243-90807244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11202938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11202942	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11202947	0.93[EUR][1000 genomes]
rs11202949	0.93[EUR][1000 genomes]
rs12244167	0.93[EUR][1000 genomes]
rs12255890	1.00[EUR][1000 genomes]
rs12257967	1.00[EUR][1000 genomes]
rs12258103	0.93[EUR][1000 genomes]
rs7071358	0.93[EUR][1000 genomes]
rs7088145	0.93[EUR][1000 genomes]
rs7091591	0.93[EUR][1000 genomes]
rs74147171	0.93[EUR][1000 genomes]
rs74147181	0.93[EUR][1000 genomes]
rs7915047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9663252	1.00[CEU][hapmap];0.85[MKK][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7081986	PENK	trans	brain	seeQTL
rs7081986	COCH	trans	brain	seeQTL
rs7081986	GPR88	trans	brain	seeQTL
rs7081986	CCDC88C	trans	brain	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90771800-90808600	Weak transcription	Primary T cells from cord blood	blood
2	chr10:90792800-90807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:90792800-90814600	Weak transcription	GM12878-XiMat	blood
4	chr10:90794200-90816800	Weak transcription	Left Ventricle	heart
5	chr10:90801200-90809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:90801400-90829400	Weak transcription	Aorta	Aorta
7	chr10:90802600-90815000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:90803200-90813200	Weak transcription	Ovary	ovary
9	chr10:90803200-90825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:90804000-90810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:90806000-90809200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:90806000-90811200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:90806200-90814600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:90806800-90808000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:90807000-90807800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:90807200-90807800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:90807200-90807800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:90807200-90808000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:90807200-90808000	Enhancers	NHDF-Ad	bronchial
20	chr10:90807200-90808400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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