Variant report

Variant	rs11158593
Chromosome Location	chr14:65859984-65859985
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	chr14:65854015..65856643-chr14:65859496..65861468,2	K562	blood:
2	chr14:65858309..65860376-chr14:65878138..65880007,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10138570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483780	0.92[CEU][hapmap]
rs11158592	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158601	0.88[CEU][hapmap]
rs11621680	0.92[CEU][hapmap]
rs11627084	0.89[CEU][hapmap]
rs11851576	0.80[CEU][hapmap]
rs12589698	0.93[CEU][hapmap];0.80[MEX][hapmap]
rs12879971	0.89[CEU][hapmap]
rs12887134	0.93[CEU][hapmap]
rs12892058	0.93[CEU][hapmap]
rs1953416	0.93[CEU][hapmap];0.80[MEX][hapmap];0.80[EUR][1000 genomes]
rs1958561	0.89[CEU][hapmap]
rs2149841	0.93[CEU][hapmap]
rs2184603	0.89[CEU][hapmap]
rs2411822	0.89[CEU][hapmap];0.80[MEX][hapmap]
rs3783709	0.89[CEU][hapmap]
rs3825640	0.93[CEU][hapmap];0.80[MEX][hapmap]
rs4581615	0.89[CEU][hapmap]
rs4899179	0.89[CEU][hapmap]
rs7146742	0.81[CEU][hapmap]
rs7155541	0.93[CEU][hapmap]
rs7161123	0.88[CEU][hapmap]
rs867972	0.89[CEU][hapmap]
rs883081	0.93[CEU][hapmap];0.80[MEX][hapmap]
rs883082	0.88[CEU][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	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1044363	chr14:65850832-65870128	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv510639	chr14:65853883-65884315	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11158593	FUT8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65849400-65861800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:65858200-65860000	Enhancers	Placenta	Placenta
3	chr14:65859000-65860000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links