Variant report

Variant	rs8119692
Chromosome Location	chr20:11368551-11368552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10432740	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11087024	0.89[AFR][1000 genomes]
rs2207125	0.80[AFR][1000 genomes]
rs2207127	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2327372	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2327373	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2327374	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2327375	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2327376	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2327400	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876223	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35455280	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4522681	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6033101	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6033104	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6033109	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6040526	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6040529	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6040530	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6040531	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6040533	0.89[EUR][1000 genomes]
rs6074280	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6074286	0.81[EUR][1000 genomes]
rs6074296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6078128	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6078129	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6078153	0.81[EUR][1000 genomes]
rs6078154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6078155	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6078156	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6078158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6078160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6104744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6104746	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6108946	0.81[EUR][1000 genomes]
rs6108947	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6108950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6134231	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6134235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7269125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs764355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8119692	PLCB1	cis	cerebellum	SCAN
rs8119692	ANKRD5	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11367200-11369200	Enhancers	A549	lung
2	chr20:11367400-11368800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr20:11367400-11369000	Enhancers	Hela-S3	cervix
4	chr20:11367600-11368600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:11367600-11368600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr20:11367600-11368600	Enhancers	NH-A	brain
7	chr20:11367600-11368800	Enhancers	NHEK	skin
8	chr20:11367600-11369000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr20:11367600-11370600	Enhancers	HMEC	breast
10	chr20:11367800-11368800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:11368000-11369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:11368400-11369200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:11368400-11369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:11368400-11369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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