Variant report

Variant	rs12892567
Chromosome Location	chr14:81427552-81427553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81427520..81429022-chr14:81432254..81434626,2	K562	blood:
2	chr14:81421633..81424276-chr14:81426151..81427849,2	K562	blood:
3	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:
4	chr14:81427260..81428823-chr14:81430386..81432233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165409	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10132871	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1035145	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs11850285	0.80[ASN][1000 genomes]
rs12147744	0.80[JPT][hapmap]
rs12586161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12587883	0.86[CEU][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.85[EUR][1000 genomes]
rs12590236	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12590262	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12590277	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12590682	0.81[JPT][hapmap]
rs12884630	0.85[JPT][hapmap]
rs12890859	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2110695	0.82[AMR][1000 genomes]
rs2160214	0.92[YRI][hapmap];0.82[AMR][1000 genomes]
rs2195101	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2268453	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2284715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284721	0.93[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes]
rs2284723	0.82[ASN][1000 genomes]
rs2284725	0.81[ASN][1000 genomes]
rs2284728	0.81[ASN][1000 genomes]
rs2300517	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2300520	0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs2371414	0.83[JPT][hapmap]
rs35298517	0.86[EUR][1000 genomes]
rs35789224	0.82[AMR][1000 genomes]
rs35847336	0.86[EUR][1000 genomes]
rs36193909	0.84[AFR][1000 genomes]
rs3742720	0.86[CEU][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.86[EUR][1000 genomes]
rs3783946	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58078360	0.82[EUR][1000 genomes]
rs58838870	0.81[ASN][1000 genomes]
rs59103962	0.81[ASN][1000 genomes]
rs59627467	0.81[ASN][1000 genomes]
rs7154821	0.82[AMR][1000 genomes]
rs72693081	0.81[ASN][1000 genomes]
rs8003402	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]

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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12892567	IZUMO1	trans	parietal	SCAN
rs12892567	C14orf4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81423200-81427600	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:81425600-81427800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:81426200-81427600	Enhancers	Brain Germinal Matrix	brain
4	chr14:81426800-81427600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr14:81426800-81429000	Genic enhancers	Fetal Thymus	thymus
6	chr14:81426800-81429200	Enhancers	Thymus	Thymus
7	chr14:81427200-81427600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:81427200-81427600	Transcr. at gene 5' and 3'	Dnd41	blood

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