Variant report

Variant	rs12320375
Chromosome Location	chr12:106176817-106176818
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	chr12:106148181..106150211-chr12:106176354..106177966,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10861516	1.00[EUR][1000 genomes]
rs10861518	0.95[EUR][1000 genomes]
rs10861519	0.90[EUR][1000 genomes]
rs11112741	0.95[EUR][1000 genomes]
rs11112744	1.00[EUR][1000 genomes]
rs11112746	0.95[EUR][1000 genomes]
rs11112750	1.00[EUR][1000 genomes]
rs11112751	1.00[EUR][1000 genomes]
rs11112753	0.90[EUR][1000 genomes]
rs11112754	0.85[EUR][1000 genomes]
rs11112755	0.85[EUR][1000 genomes]
rs11832816	0.95[EUR][1000 genomes]
rs12296188	0.95[EUR][1000 genomes]
rs12297114	0.95[EUR][1000 genomes]
rs12297356	0.95[EUR][1000 genomes]
rs12303319	0.95[EUR][1000 genomes]
rs12307004	1.00[EUR][1000 genomes]
rs12312463	1.00[EUR][1000 genomes]
rs12313019	0.95[EUR][1000 genomes]
rs12315670	1.00[EUR][1000 genomes]
rs12315720	1.00[EUR][1000 genomes]
rs12317019	0.95[EUR][1000 genomes]
rs12318067	0.95[EUR][1000 genomes]
rs12318387	0.95[EUR][1000 genomes]
rs12318858	0.95[EUR][1000 genomes]
rs12319452	1.00[EUR][1000 genomes]
rs12321480	0.90[EUR][1000 genomes]
rs17037618	1.00[EUR][1000 genomes]
rs17037643	1.00[EUR][1000 genomes]
rs28372208	0.90[EUR][1000 genomes]
rs28477710	0.90[EUR][1000 genomes]
rs28483503	0.90[EUR][1000 genomes]
rs57421808	0.95[EUR][1000 genomes]
rs57941771	1.00[EUR][1000 genomes]
rs60886557	0.90[EUR][1000 genomes]
rs73383186	0.90[EUR][1000 genomes]
rs9651956	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv15321	chr12:106162101-106182216	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	esv3412941	chr12:106175272-106177770	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3436269	chr12:106175422-106177170	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3330255	chr12:106176719-106177177	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106168800-106177600	Weak transcription	HSMMtube	muscle

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