Variant report

Variant	rs12231102
Chromosome Location	chr12:67493890-67493891
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	chr12:67482974..67485741-chr12:67492870..67495012,2	K562	blood:
2	chr12:67492809..67494685-chr12:67494838..67497752,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10459266	0.86[ASN][1000 genomes]
rs10784605	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784606	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784607	0.96[ASN][1000 genomes]
rs10784608	0.96[ASN][1000 genomes]
rs10784609	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878553	0.86[ASN][1000 genomes]
rs10878559	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10878561	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878566	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10878569	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11176552	0.86[ASN][1000 genomes]
rs11176555	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11176556	0.84[ASN][1000 genomes]
rs11176557	0.89[ASN][1000 genomes]
rs11176562	0.96[ASN][1000 genomes]
rs11176567	0.93[ASN][1000 genomes]
rs11176577	0.89[ASN][1000 genomes]
rs11176580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11176582	0.95[ASN][1000 genomes]
rs11176586	0.96[ASN][1000 genomes]
rs11611265	0.89[CEU][hapmap]
rs11829047	0.96[ASN][1000 genomes]
rs11832135	0.82[EUR][1000 genomes]
rs11835794	0.85[CEU][hapmap]
rs12227624	0.96[ASN][1000 genomes]
rs12227692	1.00[ASN][1000 genomes]
rs12228046	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12228922	0.89[ASN][1000 genomes]
rs12228998	0.98[ASN][1000 genomes]
rs12230670	0.96[ASN][1000 genomes]
rs12833688	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1465026	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1526835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1526839	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1589971	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17103378	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17183558	0.84[CEU][hapmap]
rs17183565	0.84[CEU][hapmap]
rs17183669	0.92[CEU][hapmap]
rs17183676	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17183711	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17781166	0.89[EUR][1000 genomes]
rs17781196	0.92[CEU][hapmap]
rs2870926	0.86[ASN][1000 genomes]
rs2904534	0.93[ASN][1000 genomes]
rs4244070	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4913529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6581735	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6581740	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136952	0.86[ASN][1000 genomes]
rs7138249	0.86[ASN][1000 genomes]
rs7298268	0.96[ASN][1000 genomes]
rs7311137	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74101218	0.89[EUR][1000 genomes]
rs7953961	0.82[ASN][1000 genomes]
rs7959866	0.86[ASN][1000 genomes]
rs7961562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7961790	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7961954	0.98[ASN][1000 genomes]
rs7962241	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7974866	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7980101	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs941096	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12231102	MON2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67491800-67501800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67493800-67494600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:67493800-67494600	Enhancers	Fetal Heart	heart

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