Variant report

Variant	rs12511359
Chromosome Location	chr4:76993951-76993952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr4:76993946-76994493	H1-hESC	embryonic stem cell:	n/a	n/a
2	NANOG	chr4:76993904-76994190	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr4:76993853-76994365	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr4:76993894-76994171	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:76993726-76994221	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr4:76993846-76994450	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:76993613-76994693	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr4:76993526-76994274	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:76993887-76994245	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr4:76993940-76994355	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:76993814-76994193	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:76993878-76994115	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:76993827-76994161	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76992822..76994466-chr4:76996001..76997996,2	K562	blood:
2	chr4:76988729..76991043-chr4:76993195..76994922,3	K562	blood:

No data

Variant related genes	Relation type
ART3	TF binding region
ENSG00000156219	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10019066	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025961	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030471	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10222911	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10433952	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10856871	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12499668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504915	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509988	1.00[CEU][hapmap]
rs12509996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12510239	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511352	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12511357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511861	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13106039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554015	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs17001275	0.82[CEU][hapmap]
rs17001284	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs28484974	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28601861	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28647509	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869461	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs35353995	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733236	0.80[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4404571	0.90[ASN][1000 genomes]
rs4621456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813915	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56054611	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60282049	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60431104	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67194908	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67308118	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67687266	0.84[ASN][1000 genomes]
rs6834291	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6857378	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666094	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670156	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7671170	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7671209	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7676234	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7684879	0.82[ASN][1000 genomes]
rs7685390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693117	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693456	1.00[CEU][hapmap]
rs7693606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7693693	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696286	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9990658	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76992600-76994800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:76993200-76994800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:76993400-76996000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:76993400-76996000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:76993600-76994000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:76993600-76994000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr4:76993600-76994400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:76993600-76994400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:76993600-76995000	Enhancers	Fetal Heart	heart
10	chr4:76993600-76995800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:76993800-76994200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:76993800-76994400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:76993800-76994400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:76993800-76995200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:76993800-76995400	Enhancers	Skeletal Muscle Male	skeletal muscle

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