Variant report

Variant	rs56262657
Chromosome Location	chr11:62688450-62688451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr11:62688414-62689762	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:62622504..62624182-chr11:62686066..62688512,2	K562	blood:
2	chr11:62684211..62686815-chr11:62688182..62691339,3	K562	blood:
3	chr11:62686826..62688779-chr11:62689068..62691187,2	K562	blood:
4	chr11:62670875..62680186-chr11:62684644..62693105,18	MCF-7	breast:
5	chr11:62682515..62686496-chr11:62687145..62690547,5	K562	blood:
6	chr11:62606809..62611421-chr11:62687018..62693613,7	MCF-7	breast:
7	chr11:62676072..62679546-chr11:62682200..62691147,12	MCF-7	breast:
8	chr11:62683827..62686119-chr11:62686638..62688972,2	MCF-7	breast:
9	chr11:62605044..62611833-chr11:62683227..62691981,12	MCF-7	breast:
10	chr11:62687026..62689620-chr11:62751524..62753744,2	K562	blood:
11	chr11:62646710..62648810-chr11:62687538..62689071,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHRM1	TF binding region
ENSG00000255717	Chromatin interaction
ENSG00000168539	Chromatin interaction
ENSG00000197901	Chromatin interaction
ENSG00000257002	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168003	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	1.00[EUR][1000 genomes]
rs482331	1.00[EUR][1000 genomes]
rs486451	1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	1.00[EUR][1000 genomes]
rs56226867	1.00[EUR][1000 genomes]
rs564587	1.00[EUR][1000 genomes]
rs572513	1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	1.00[EUR][1000 genomes]
rs577071	1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs59149810	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60668695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62684400-62689200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:62684400-62689400	Active TSS	Brain Cingulate Gyrus	brain
3	chr11:62685000-62688800	Active TSS	Brain Angular Gyrus	brain
4	chr11:62685000-62689200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:62685400-62689400	Active TSS	Brain Anterior Caudate	brain
6	chr11:62686600-62689600	Enhancers	Fetal Heart	heart
7	chr11:62687000-62689400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr11:62687200-62689000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:62687200-62689400	Enhancers	Placenta	Placenta
10	chr11:62687400-62689400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:62687600-62688800	Flanking Active TSS	Fetal Brain Female	brain
12	chr11:62687600-62688800	Enhancers	Pancreas	Pancrea
13	chr11:62687600-62690600	Weak transcription	Right Atrium	heart
14	chr11:62687600-62691000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:62687800-62688600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:62687800-62688600	Weak transcription	Gastric	stomach
17	chr11:62687800-62690800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:62688000-62688600	Enhancers	Lung	lung
19	chr11:62688000-62688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:62688200-62688600	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr11:62688200-62688800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:62688200-62690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:62688400-62688600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr11:62688400-62688800	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:62688400-62689200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr11:62688400-62689200	Flanking Active TSS	Fetal Brain Male	brain
27	chr11:62688400-62689600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:62688400-62689600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:62688400-62689800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:62688400-62690000	Flanking Active TSS	Hela-S3	cervix
31	chr11:62688400-62690400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr11:62688400-62690600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr11:62688400-62691200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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