Variant report

Variant	rs12286949
Chromosome Location	chr11:9400051-9400052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9385385..9387133-chr11:9397902..9400068,2	MCF-7	breast:
2	chr11:9395810..9400797-chr11:9402535..9410441,9	K562	blood:
3	chr11:9397514..9400797-chr11:9405124..9408985,5	K562	blood:
4	chr11:9335677..9337967-chr11:9398031..9400128,2	K562	blood:

Variant related genes	Relation type
ENSG00000166471	Chromatin interaction
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10082685	0.90[GIH][hapmap]
rs10128708	0.92[AMR][1000 genomes]
rs11042308	0.84[AMR][1000 genomes]
rs11042310	0.84[AMR][1000 genomes]
rs11042318	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042323	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042324	0.92[AMR][1000 genomes]
rs11042325	0.92[AMR][1000 genomes]
rs11042346	0.92[AMR][1000 genomes]
rs11042361	0.92[AMR][1000 genomes]
rs11042363	0.85[AMR][1000 genomes]
rs11042365	0.85[AMR][1000 genomes]
rs11042401	0.90[GIH][hapmap]
rs11601068	0.92[AMR][1000 genomes]
rs11602056	0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11607631	0.92[GIH][hapmap];0.81[TSI][hapmap]
rs12272069	0.92[AMR][1000 genomes]
rs12275828	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12276413	0.92[AMR][1000 genomes]
rs12279202	0.92[GIH][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes]
rs12282862	0.92[AMR][1000 genomes]
rs12291406	0.84[AMR][1000 genomes]
rs12293264	0.92[GIH][hapmap]
rs12294461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16906804	0.92[GIH][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes]
rs28463550	0.92[AMR][1000 genomes]
rs34485398	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36048375	0.92[GIH][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes]
rs4910052	0.92[GIH][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes]
rs4910463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910466	0.92[GIH][hapmap];0.81[TSI][hapmap]
rs4910467	0.92[GIH][hapmap];0.81[TSI][hapmap]
rs4910469	0.92[GIH][hapmap]
rs4910471	0.92[GIH][hapmap];0.81[TSI][hapmap]
rs55750964	0.92[AMR][1000 genomes]
rs9971482	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12286949	ZNF143	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:9394800-9400600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:9394800-9400600	Weak transcription	HepG2	liver
4	chr11:9394800-9402000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:9395000-9400600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:9395000-9400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:9398200-9405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:9398600-9402400	Weak transcription	NHEK	skin
9	chr11:9398600-9405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:9398800-9402400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:9399000-9405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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