Variant report

Variant	rs537786
Chromosome Location	chr11:65494987-65494988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65493436..65495930-chr11:65657867..65659544,2	K562	blood:
2	chr11:65486247..65489385-chr11:65493532..65496912,4	MCF-7	breast:
3	chr11:65478491..65482258-chr11:65493417..65497237,3	K562	blood:
4	chr11:65494883..65497549-chr11:65540068..65542666,2	K562	blood:
5	chr11:65487520..65489937-chr11:65492095..65496093,4	MCF-7	breast:
6	chr11:65487463..65490934-chr11:65492571..65495479,8	K562	blood:
7	chr11:65478433..65481069-chr11:65493417..65495213,3	K562	blood:

Variant related genes	Relation type
ENSG00000172977	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172922	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1144789	0.82[CHB][hapmap]
rs1151490	0.82[CHB][hapmap]
rs1193496	1.00[CEU][hapmap];0.94[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs12293022	0.95[EUR][1000 genomes]
rs12801731	1.00[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs2508301	0.92[EUR][1000 genomes]
rs2508303	0.85[EUR][1000 genomes]
rs478304	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs495961	0.93[EUR][1000 genomes]
rs498354	0.95[EUR][1000 genomes]
rs502468	0.94[EUR][1000 genomes]
rs509206	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs522800	0.93[EUR][1000 genomes]
rs546202	1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs570954	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs574483	0.97[EUR][1000 genomes]
rs603645	1.00[CEU][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs610037	1.00[CEU][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs614771	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs61895666	0.92[EUR][1000 genomes]
rs61895677	0.91[EUR][1000 genomes]
rs669742	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv983035	chr11:65494712-65529501	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs537786	MAP3K11	cis	parietal	SCAN
rs537786	RNASEH2C	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65488400-65496200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:65493000-65495400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:65494200-65495400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:65494800-65495400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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