Variant report

Variant	rs4721048
Chromosome Location	chr7:12178344-12178345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10488197	0.90[EUR][1000 genomes]
rs11971238	0.90[EUR][1000 genomes]
rs11974884	0.90[EUR][1000 genomes]
rs11978002	0.90[EUR][1000 genomes]
rs11982898	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983376	0.96[EUR][1000 genomes]
rs11984292	0.94[EUR][1000 genomes]
rs12536822	0.83[ASN][1000 genomes]
rs1369490	0.88[EUR][1000 genomes]
rs17593403	0.99[EUR][1000 genomes]
rs17593774	0.94[EUR][1000 genomes]
rs17593802	0.94[EUR][1000 genomes]
rs17652095	0.99[EUR][1000 genomes]
rs17664235	0.96[EUR][1000 genomes]
rs1836665	0.89[EUR][1000 genomes]
rs4345462	0.89[EUR][1000 genomes]
rs4721044	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629966	0.81[EUR][1000 genomes]
rs57721253	0.90[EUR][1000 genomes]
rs59157285	0.92[EUR][1000 genomes]
rs6947990	0.93[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs6968030	0.93[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7776714	0.89[EUR][1000 genomes]
rs7777029	0.89[EUR][1000 genomes]
rs7787809	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4721048	VWDE	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12177400-12178400	Weak transcription	Hela-S3	cervix
2	chr7:12178000-12180000	Enhancers	NH-A	brain

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