Variant report

Variant	rs4469047
Chromosome Location	chr4:175309865-175309866
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175295867..175300840-chr4:175308338..175314041,5	K562	blood:

Variant related genes	Relation type
ENSG00000249875	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10446854	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934405	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11939414	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13101256	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111067	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13112711	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13125731	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13151156	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066344	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34274380	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34369193	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34698083	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34765808	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35377027	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35473266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35567270	0.90[AMR][1000 genomes]
rs4280712	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4293767	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4306937	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4408938	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4408939	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4428259	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447835	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4452408	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4458430	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4695777	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4695926	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4695927	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4695928	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4695930	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695931	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58895800	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58956072	1.00[ASN][1000 genomes]
rs67509565	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6812756	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6812772	0.80[AMR][1000 genomes]
rs6814901	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6817902	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6831848	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855058	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855451	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702274	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72702283	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656670	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	esv3352016	chr4:175304977-175322711	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175301800-175310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:175305400-175310400	Weak transcription	K562	blood
3	chr4:175308800-175310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:175309600-175310800	Enhancers	Stomach Mucosa	stomach
5	chr4:175309800-175312800	Enhancers	A549	lung

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