Variant report

Variant	rs12420336
Chromosome Location	chr11:65595803-65595804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65595265..65598339-chr11:65622460..65625720,3	MCF-7	breast:
2	chr11:65594885..65596938-chr11:65600199..65602076,2	K562	blood:
3	chr11:65580481..65582382-chr11:65594017..65596909,2	K562	blood:
4	chr11:65587777..65590458-chr11:65595251..65598434,3	MCF-7	breast:
5	chr11:65594533..65596401-chr11:65599655..65602570,2	MCF-7	breast:
6	chr11:65595441..65596991-chr11:65624000..65626519,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172803	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10791825	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791826	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896049	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896053	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896055	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1151515	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1204771	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1204772	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418103	0.82[AMR][1000 genomes]
rs4930162	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930322	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930325	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs521004	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs550976	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56169730	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58836187	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59416249	0.83[AMR][1000 genomes]
rs601887	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60678003	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61895685	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs621348	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs646675	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591191	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7112754	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7113768	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7114237	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72924752	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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
2	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
3	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
4	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
5	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
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65585800-65600200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:65585800-65600600	Weak transcription	Small Intestine	intestine
3	chr11:65591600-65600400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:65592800-65598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:65594400-65596200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:65594800-65597200	Enhancers	Fetal Intestine Large	intestine
7	chr11:65594800-65597400	Enhancers	Fetal Intestine Small	intestine
8	chr11:65595200-65596200	Enhancers	Duodenum Mucosa	Duodenum
9	chr11:65595200-65600200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:65595400-65596000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:65595600-65600400	Weak transcription	Rectal Mucosa Donor 31	rectum

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