Variant report

Variant	rs34638401
Chromosome Location	chr12:82693728-82693729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10506869	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10506872	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10506873	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10735453	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10746242	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10746244	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10746245	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778888	1.00[ASN][1000 genomes]
rs10778889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778895	1.00[ASN][1000 genomes]
rs10778902	1.00[ASN][1000 genomes]
rs10778908	1.00[CHB][hapmap]
rs10862480	1.00[ASN][1000 genomes]
rs10862482	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115234	1.00[ASN][1000 genomes]
rs11115240	1.00[ASN][1000 genomes]
rs11115241	1.00[ASN][1000 genomes]
rs11115242	1.00[ASN][1000 genomes]
rs11831879	1.00[ASN][1000 genomes]
rs11835324	1.00[ASN][1000 genomes]
rs1494023	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs1494024	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17711838	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712868	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17712927	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17719063	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17773938	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17774157	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774489	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774872	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17775025	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17775169	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17776036	1.00[ASN][1000 genomes]
rs2401034	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2401035	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2642010	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs2717446	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2731287	1.00[ASN][1000 genomes]
rs2895914	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4143188	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4143189	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4319577	1.00[ASN][1000 genomes]
rs4411333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4491327	1.00[ASN][1000 genomes]
rs4495950	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4544081	1.00[CHB][hapmap]
rs4882453	1.00[ASN][1000 genomes]
rs4882526	1.00[ASN][1000 genomes]
rs4882527	1.00[ASN][1000 genomes]
rs4882528	1.00[ASN][1000 genomes]
rs4882530	1.00[ASN][1000 genomes]
rs57418508	1.00[ASN][1000 genomes]
rs6539659	1.00[ASN][1000 genomes]
rs6539662	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7138488	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294780	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294918	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295042	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295566	1.00[ASN][1000 genomes]
rs7304084	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7311246	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs73149542	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149543	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73149557	1.00[ASN][1000 genomes]
rs73149567	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149577	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149595	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149597	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151403	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151413	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151422	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151425	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151445	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151447	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151450	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73151460	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73151484	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73151489	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73151496	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153504	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153509	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153526	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153530	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153534	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153539	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153551	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153559	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153561	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153569	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153571	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153572	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153573	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153577	1.00[ASN][1000 genomes]
rs73153578	1.00[ASN][1000 genomes]
rs73153584	1.00[ASN][1000 genomes]
rs73153585	1.00[ASN][1000 genomes]
rs73153587	1.00[ASN][1000 genomes]
rs73153588	1.00[ASN][1000 genomes]
rs73153590	1.00[ASN][1000 genomes]
rs73153592	1.00[ASN][1000 genomes]
rs73153599	1.00[ASN][1000 genomes]
rs73155404	1.00[ASN][1000 genomes]
rs73155406	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73155441	1.00[ASN][1000 genomes]
rs7488252	1.00[ASN][1000 genomes]
rs7956163	1.00[ASN][1000 genomes]
rs7957993	1.00[ASN][1000 genomes]
rs7966041	1.00[ASN][1000 genomes]
rs7967097	1.00[ASN][1000 genomes]
rs7968024	1.00[ASN][1000 genomes]
rs7971746	1.00[ASN][1000 genomes]
rs7977442	0.92[GIH][hapmap]

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	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv832471	chr12:82578953-82755360	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv559540	chr12:82644162-82715210	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82692800-82694800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:82692800-82695000	Enhancers	Fetal Heart	heart
3	chr12:82693000-82694200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:82693000-82694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:82693000-82694800	Enhancers	NH-A	brain
6	chr12:82693400-82694800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:82693600-82694400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:82693600-82694800	Enhancers	Brain Angular Gyrus	brain

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