Variant report

Variant	rs4930322
Chromosome Location	chr11:65578029-65578030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65569981..65571499-chr11:65576060..65578225,2	MCF-7	breast:
2	chr11:65572431..65575992-chr11:65577073..65580211,5	MCF-7	breast:
3	chr11:65547646..65551396-chr11:65574848..65579381,6	K562	blood:
4	chr11:65577536..65578347-chr11:65651892..65652850,3	MCF-7	breast:
5	chr11:65577404..65580770-chr11:65592566..65594874,3	K562	blood:
6	chr11:65572404..65575326-chr11:65576083..65580070,3	K562	blood:
7	chr11:65577781..65579327-chr11:65656860..65658905,2	K562	blood:
8	chr11:65547070..65550326-chr11:65573343..65578492,6	MCF-7	breast:
9	chr11:65575640..65578882-chr11:65620145..65623092,3	K562	blood:
10	chr11:65576308..65578705-chr11:65600271..65604336,3	MCF-7	breast:
11	chr11:65577980..65580904-chr11:65655568..65657932,2	K562	blood:
12	chr11:65428811..65431041-chr11:65577334..65579546,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254470	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172803	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175602	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10791825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791826	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896049	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896053	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896055	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151515	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1204771	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1204772	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420336	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930162	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930325	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521004	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550976	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56169730	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58836187	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601887	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60678003	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895685	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621348	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646675	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591191	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112754	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7113768	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114237	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72924752	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9971612	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv10330	chr11:65573764-65580076	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2762915	chr11:65575850-65580638	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3357995	chr11:65575876-65580074	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65574600-65581400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:65575000-65580000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:65575400-65583800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
5	chr11:65577400-65578600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:65577400-65578600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
7	chr11:65577400-65581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:65577600-65578800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr11:65577600-65579600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:65577800-65578200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:65577800-65578200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65577800-65578200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:65577800-65578200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:65577800-65578200	Enhancers	Esophagus	oesophagus
15	chr11:65577800-65578200	Enhancers	Gastric	stomach
16	chr11:65577800-65578200	Enhancers	Pancreas	Pancrea
17	chr11:65577800-65578200	Enhancers	Right Ventricle	heart
18	chr11:65577800-65583200	Enhancers	Adipose Nuclei	Adipose
19	chr11:65577800-65584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:65578000-65578800	Enhancers	Lung	lung
21	chr11:65578000-65582200	Weak transcription	Left Ventricle	heart
22	chr11:65578000-65584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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