Variant report

Variant	rs11711594
Chromosome Location	chr3:196260587-196260588
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:196260253-196260646	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr3:196260204-196260617	K562	blood:	n/a	n/a
3	TEAD4	chr3:196260335-196260608	K562	blood:	n/a	n/a
4	SP1	chr3:196259981-196260636	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr3:196260316-196260623	K562	blood:	n/a	n/a
6	NANOG	chr3:196260028-196260600	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr3:196259925-196260624	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr3:196260001-196260659	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr3:196260027-196260716	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA2	chr3:196260177-196260637	HUVEC	blood vessel:	n/a	n/a
11	YY1	chr3:196260109-196260638	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP4	chr3:196260050-196260594	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:196260532-196260594	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPD	chr3:196260316-196260613	K562	blood:	n/a	n/a
15	TEAD4	chr3:196259943-196260662	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr3:196260087-196260619	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196259672..196262554-chr3:196667256..196669861,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213358	TF binding region
ENSG00000225770	TF binding region
ENSG00000270170	Chromatin interaction
ENSG00000114503	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11185544	0.95[ASN][1000 genomes]
rs11185545	0.82[AMR][1000 genomes]
rs11706197	0.89[ASN][1000 genomes]
rs11711952	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11714694	0.95[ASN][1000 genomes]
rs11920455	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12489885	0.89[ASN][1000 genomes]
rs12494859	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495687	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054750	0.86[AMR][1000 genomes]
rs2086891	0.95[ASN][1000 genomes]
rs2341334	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2880030	0.85[AMR][1000 genomes]
rs3964310	0.95[ASN][1000 genomes]
rs4488870	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56144237	0.92[ASN][1000 genomes]
rs57365032	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668021	0.81[AMR][1000 genomes]
rs62410583	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583317	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583318	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66588136	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765975	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775794	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6775806	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780633	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780856	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6799694	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799697	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6803397	0.87[ASN][1000 genomes]
rs6803596	0.82[ASN][1000 genomes]
rs6807081	0.84[ASN][1000 genomes]
rs6807097	0.87[ASN][1000 genomes]
rs6810083	0.84[ASN][1000 genomes]
rs73219653	0.95[ASN][1000 genomes]
rs73219654	0.95[ASN][1000 genomes]
rs73219660	0.95[ASN][1000 genomes]
rs7614249	0.81[ASN][1000 genomes]
rs7615547	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623111	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623224	0.89[ASN][1000 genomes]
rs7626039	0.85[AMR][1000 genomes]
rs7629990	0.87[ASN][1000 genomes]
rs7651365	0.81[ASN][1000 genomes]
rs9647412	0.84[AMR][1000 genomes]
rs9811428	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9813420	0.82[AMR][1000 genomes]
rs9814342	0.84[ASN][1000 genomes]
rs9818507	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9831225	0.86[AMR][1000 genomes]
rs9839347	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9840938	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9848622	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9849530	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9853777	0.83[AMR][1000 genomes]
rs9854347	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9858251	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868492	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9870613	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880563	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv967108	chr3:196255474-196263970	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196256200-196260800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:196259600-196261200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:196259800-196260600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:196260000-196260600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:196260200-196260600	ZNF genes & repeats	Placenta	Placenta
6	chr3:196260200-196260600	Flanking Active TSS	K562	blood
7	chr3:196260200-196261200	Enhancers	HUVEC	blood vessel
8	chr3:196260400-196260600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:196260400-196260600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:196260400-196260600	Enhancers	HepG2	liver

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