Variant report

Variant	rs10879350
Chromosome Location	chr12:72393575-72393576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72392745..72395338-chr12:72397148..72399546,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10506645	0.85[ASW][hapmap];0.84[CEU][hapmap]
rs10506646	0.85[ASW][hapmap];0.84[CEU][hapmap];0.81[YRI][hapmap]
rs10879345	0.87[JPT][hapmap]
rs10879346	0.87[JPT][hapmap]
rs10879351	0.86[JPT][hapmap]
rs11179002	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11179023	0.94[CEU][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179027	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs11179034	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179039	0.82[JPT][hapmap]
rs11834097	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834114	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229394	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12301662	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12319219	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12322900	0.87[JPT][hapmap]
rs1352250	0.82[JPT][hapmap]
rs1487278	0.84[CEU][hapmap]
rs1532008	1.00[JPT][hapmap]
rs17110477	0.84[CEU][hapmap]
rs17110489	0.84[CEU][hapmap]
rs17110532	0.81[JPT][hapmap]
rs17110536	0.84[CEU][hapmap]
rs17110540	0.84[CEU][hapmap]
rs17110627	0.84[CEU][hapmap]
rs17110690	0.84[CEU][hapmap]
rs1843811	0.95[JPT][hapmap]
rs2129575	0.84[TSI][hapmap]
rs2171363	0.87[JPT][hapmap]
rs2368049	1.00[JPT][hapmap]
rs4641528	1.00[JPT][hapmap]
rs4760750	0.95[JPT][hapmap]
rs4760754	1.00[JPT][hapmap]
rs4760755	1.00[JPT][hapmap]
rs4760816	0.95[JPT][hapmap]
rs4760817	0.95[JPT][hapmap]
rs55851729	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582073	0.95[JPT][hapmap]
rs6582077	0.91[JPT][hapmap]
rs6582078	0.87[JPT][hapmap]
rs67472746	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67752672	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7305115	0.95[JPT][hapmap]
rs7309686	0.95[JPT][hapmap]
rs7963720	0.95[JPT][hapmap]
rs7967686	1.00[JPT][hapmap]
rs7969114	0.95[JPT][hapmap]
rs7979770	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72393200-72393600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:72393400-72394200	Enhancers	NHEK	skin
3	chr12:72393400-72394400	Enhancers	HMEC	breast

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