Variant report

Variant	rs72669319
Chromosome Location	chr8:104029089-104029090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104027811..104029796-chr8:104031590..104033402,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C1-2	chr8:104028972-104029817	NONHSAT128148

Variant related genes	Relation type
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1512351	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200931	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3808549	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635754	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.89[EUR][1000 genomes]
rs55844983	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224531	0.97[EUR][1000 genomes]
rs56370378	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs57059899	0.89[EUR][1000 genomes]
rs57205128	0.89[EUR][1000 genomes]
rs72667277	0.86[EUR][1000 genomes]
rs72667278	0.89[EUR][1000 genomes]
rs72667279	0.89[EUR][1000 genomes]
rs72667281	0.89[EUR][1000 genomes]
rs72667282	0.89[EUR][1000 genomes]
rs72667289	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72667290	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72667292	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72667301	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72669305	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72669327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669337	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669342	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72669356	0.94[EUR][1000 genomes]
rs73288580	0.89[EUR][1000 genomes]
rs7844885	0.93[EUR][1000 genomes]
rs7844974	0.96[EUR][1000 genomes]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv967623	chr8:104028984-104031355	Weak transcription	CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72669319	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104023200-104032000	Weak transcription	K562	blood
2	chr8:104023200-104032800	Weak transcription	Pancreas	Pancrea
3	chr8:104026600-104032000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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