Variant report

Variant	rs12825788
Chromosome Location	chr12:30113036-30113037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30107931..30110000-chr12:30112088..30114969,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10843534	0.89[AFR][1000 genomes]
rs10843545	0.89[AFR][1000 genomes]
rs11050430	0.87[AFR][1000 genomes]
rs11050436	0.87[AFR][1000 genomes]
rs11050512	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11050515	1.00[ASN][1000 genomes]
rs11050518	0.89[AFR][1000 genomes]
rs11050519	0.89[AFR][1000 genomes]
rs11050525	0.89[AFR][1000 genomes]
rs11050526	0.89[AFR][1000 genomes]
rs11050528	0.89[AFR][1000 genomes]
rs11050536	0.89[AFR][1000 genomes]
rs11050537	0.89[AFR][1000 genomes]
rs11050538	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12809939	0.89[AFR][1000 genomes]
rs12811388	0.89[AFR][1000 genomes]
rs12811826	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12811985	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12812577	0.89[AFR][1000 genomes]
rs12813154	0.89[AFR][1000 genomes]
rs12813417	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12818934	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12820739	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12821024	0.89[AFR][1000 genomes]
rs12821165	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12821746	0.89[AFR][1000 genomes]
rs12822092	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12826590	0.89[AFR][1000 genomes]
rs1466545	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2200275	0.89[AFR][1000 genomes]
rs2220131	0.89[AFR][1000 genomes]
rs416697	0.89[AFR][1000 genomes]
rs444711	0.89[AFR][1000 genomes]
rs7132449	0.89[AFR][1000 genomes]
rs7133117	0.89[AFR][1000 genomes]
rs73079425	0.87[AFR][1000 genomes]
rs7954597	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7962909	0.89[AFR][1000 genomes]
rs7967292	1.00[ASN][1000 genomes]
rs7979671	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9300194	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9668807	0.89[AFR][1000 genomes];0.91[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1042652	chr12:30094830-30133320	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30102400-30113800	Weak transcription	Aorta	Aorta
2	chr12:30112400-30113600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:30112800-30114000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:30112800-30114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30112800-30114200	Enhancers	Fetal Brain Male	brain
6	chr12:30112800-30114400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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