Variant report

Variant	rs58048713
Chromosome Location	chr4:143387896-143387897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:143387876-143387971	ProgFib	skin:	n/a	n/a
2	POLR2A	chr4:143387883-143388158	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
INPP4B	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10434184	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11930849	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11947710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59456427	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946807	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946813	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946835	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946839	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72946853	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946865	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946870	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946874	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946877	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946889	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946892	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946896	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946898	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946900	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948704	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948712	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948719	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143367000-143392600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143369200-143410600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143371600-143400800	Weak transcription	Aorta	Aorta
4	chr4:143380400-143390400	Weak transcription	Esophagus	oesophagus
5	chr4:143380400-143394800	Weak transcription	Pancreas	Pancrea
6	chr4:143384600-143394800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:143385200-143394800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143386800-143389400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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