Variant report

Variant	rs674126
Chromosome Location	chr11:65571855-65571856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65553613..65556496-chr11:65570602..65573476,3	MCF-7	breast:
2	chr11:65553362..65555161-chr11:65570411..65572237,2	K562	blood:
3	chr11:65550550..65552116-chr11:65570542..65573431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172818	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10750772	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791827	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10896047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896051	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896052	0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896061	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11227309	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227311	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227312	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227318	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11602769	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12575663	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576996	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs1939212	0.80[GIH][hapmap]
rs35083694	0.91[ASN][1000 genomes]
rs3892696	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3903072	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs485036	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930320	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930326	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs501630	0.90[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap]
rs566266	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs570387	0.84[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs575631	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs594689	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs633800	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes]
rs659824	0.88[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs7107912	0.88[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7114014	0.82[GIH][hapmap]
rs7123155	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875311	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs674126	PRDX5	cis	parietal	SCAN
rs674126	SNX32	cis	parietal	SCAN
rs674126	SNX32	cis	Whole Blood	GTEx
rs674126	SNX32	cis	cerebellum	SCAN
rs674126	PACS1	cis	parietal	SCAN
rs674126	RAB1B	cis	cerebellum	SCAN
rs674126	LRRN4CL	cis	cerebellum	SCAN
rs674126	CARNS1	cis	cerebellum	SCAN
rs674126	EFEMP2	cis	cerebellum	SCAN
rs674126	EIF1AD	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65563400-65576200	Weak transcription	Pancreas	Pancrea
2	chr11:65565600-65577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65571000-65572000	Enhancers	Placenta	Placenta
4	chr11:65571000-65572000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:65571400-65572000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:65571400-65572000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:65571600-65572000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr11:65571600-65572000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:65571600-65572000	Bivalent Enhancer	Fetal Intestine Small	intestine
10	chr11:65571600-65575600	Weak transcription	Esophagus	oesophagus
11	chr11:65571800-65572000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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