Variant report

Variant	rs10514509
Chromosome Location	chr16:80766030-80766031
allele	A/T
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	MAFF	chr16:80765849-80766166	HepG2	liver:	n/a	n/a
2	MAFK	chr16:80765842-80766180	HepG2	liver:	n/a	chr16:80766008-80766019 chr16:80766008-80766019 chr16:80766007-80766021
3	MAFK	chr16:80765852-80766170	HepG2	liver:	n/a	chr16:80766008-80766019 chr16:80766008-80766019 chr16:80766007-80766021
4	SETDB1	chr16:80765539-80766082	U2OS	brain:	n/a	n/a
5	MAFK	chr16:80765938-80766138	IMR90	lung:	n/a	chr16:80766008-80766019 chr16:80766008-80766019 chr16:80766007-80766021

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80765116..80767269-chr16:80784443..80786538,2	MCF-7	breast:
2	chr16:80759949..80762185-chr16:80763649..80766451,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260594	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10514506	0.81[CEU][hapmap]
rs11150309	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150310	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs11641163	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11643615	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11644231	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11646609	0.81[CEU][hapmap]
rs11647695	0.89[CEU][hapmap];0.85[AMR][1000 genomes]
rs11648014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444479	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12445147	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12597342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17754079	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17754097	0.96[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17826881	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17826989	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2289356	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56338398	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56364344	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7186034	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72807937	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8045164	0.90[EUR][1000 genomes]
rs8046061	0.96[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9937518	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80761800-80769800	Weak transcription	Hela-S3	cervix
2	chr16:80761800-80773400	Weak transcription	Esophagus	oesophagus
3	chr16:80766000-80772800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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