Variant report

Variant	rs12069560
Chromosome Location	chr1:93260141-93260142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11164793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164794	1.00[EUR][1000 genomes]
rs11164795	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164802	1.00[EUR][1000 genomes]
rs11164817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164852	1.00[AMR][1000 genomes]
rs11164859	1.00[AMR][1000 genomes]
rs12059319	1.00[EUR][1000 genomes]
rs12061768	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066223	1.00[AMR][1000 genomes]
rs12074805	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12077455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078923	1.00[EUR][1000 genomes]
rs12081539	1.00[EUR][1000 genomes]
rs12082513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084062	1.00[EUR][1000 genomes]
rs12084412	1.00[EUR][1000 genomes]
rs12091803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17271666	1.00[EUR][1000 genomes]
rs28716853	1.00[EUR][1000 genomes]
rs57115390	1.00[EUR][1000 genomes]
rs6700752	1.00[EUR][1000 genomes]
rs72968072	1.00[EUR][1000 genomes]
rs72968080	1.00[EUR][1000 genomes]
rs72968097	1.00[EUR][1000 genomes]
rs72969937	1.00[EUR][1000 genomes]
rs72969957	1.00[EUR][1000 genomes]
rs72969976	1.00[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93258000-93268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
3	chr1:93258200-93263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:93258200-93263600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:93258800-93269800	Weak transcription	Fetal Heart	heart
6	chr1:93259800-93260600	Enhancers	K562	blood
7	chr1:93260000-93260600	Enhancers	HepG2	liver

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