Variant report

Variant	rs7975211
Chromosome Location	chr12:47344791-47344792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10785646	0.90[EUR][1000 genomes]
rs10881009	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10881011	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881013	0.92[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183644	0.85[AFR][1000 genomes]
rs11183661	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183665	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183666	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183671	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183672	0.90[EUR][1000 genomes]
rs11609950	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229470	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12423364	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17684703	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1986584	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2250595	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2253630	0.83[EUR][1000 genomes]
rs2465617	0.88[ASN][1000 genomes]
rs2465627	0.83[EUR][1000 genomes]
rs2465628	0.83[EUR][1000 genomes]
rs2465630	0.83[EUR][1000 genomes]
rs4405401	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4586261	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6582686	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137439	0.84[EUR][1000 genomes]
rs7137808	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138703	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295618	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7962539	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963326	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7966987	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7972871	0.80[AFR][1000 genomes]
rs7978950	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7975211	CCNT1	cis	parietal	SCAN
rs7975211	PFKM	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47337000-47350400	Weak transcription	Psoas Muscle	Psoas
2	chr12:47338800-47349800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:47342400-47347600	Enhancers	Hela-S3	cervix
4	chr12:47342800-47346200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:47343200-47352800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:47343600-47344800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:47343800-47344800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47343800-47344800	Enhancers	HMEC	breast
9	chr12:47343800-47344800	Enhancers	NHEK	skin
10	chr12:47344600-47345400	Enhancers	Placenta Amnion	Placenta Amnion

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