Variant report

Variant	rs12226046
Chromosome Location	chr11:108335940-108335941
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr11:108335643-108336189	HepG2	liver:	n/a	chr11:108335940-108335956 chr11:108335944-108335953 chr11:108335941-108335955 chr11:108335940-108335956

No.	Distal block	Cell Line	Cell type
1	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
2	chr11:108249366..108252205-chr11:108334499..108338160,3	K562	blood:
3	chr11:108335836..108337491-chr11:108462941..108465715,2	K562	blood:
4	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
5	chr11:108327992..108330952-chr11:108334395..108336198,2	K562	blood:
6	chr11:108092963..108094559-chr11:108335531..108338245,2	K562	blood:
7	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:
8	chr11:108335455..108337669-chr11:108500800..108503304,2	K562	blood:

Variant related genes	Relation type
C11orf65	TF binding region
ENSG00000149311	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10890834	0.82[JPT][hapmap]
rs11212592	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs11212617	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11212636	0.82[ASN][1000 genomes]
rs11212637	0.82[ASN][1000 genomes]
rs11212638	0.82[ASN][1000 genomes]
rs11212672	0.84[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1583598	0.82[JPT][hapmap]
rs170548	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs179110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs186595	0.82[JPT][hapmap]
rs227040	0.82[JPT][hapmap]
rs227041	0.82[JPT][hapmap]
rs227055	0.82[JPT][hapmap]
rs227060	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs227061	0.82[JPT][hapmap]
rs227062	0.82[JPT][hapmap]
rs227064	0.82[JPT][hapmap]
rs227068	0.82[JPT][hapmap]
rs227069	0.91[JPT][hapmap]
rs227070	0.82[JPT][hapmap]
rs227072	0.82[JPT][hapmap]
rs227073	0.82[JPT][hapmap]
rs227074	0.82[JPT][hapmap]
rs227075	0.82[JPT][hapmap]
rs227077	0.82[JPT][hapmap]
rs227087	0.82[JPT][hapmap]
rs227092	0.82[JPT][hapmap]
rs228593	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2356801	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs373759	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs419716	0.82[JPT][hapmap]
rs425538	0.82[JPT][hapmap]
rs4615991	0.88[CEU][hapmap]
rs4753842	0.82[ASN][1000 genomes]
rs590972	0.91[ASN][1000 genomes]
rs595747	0.82[JPT][hapmap]
rs597788	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs599558	0.82[JPT][hapmap]
rs609655	0.82[JPT][hapmap]
rs611646	1.00[JPT][hapmap]
rs61915106	0.93[ASN][1000 genomes]
rs652311	0.82[JPT][hapmap]
rs652541	0.82[JPT][hapmap]
rs664143	0.82[JPT][hapmap]
rs673281	0.82[JPT][hapmap]
rs7931930	0.91[JPT][hapmap]
rs7943063	0.91[JPT][hapmap];0.81[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12226046	ACAT1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108333400-108336200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:108334400-108337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:108335600-108336000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:108335600-108336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:108335600-108337000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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