Variant report

Variant	rs73480223
Chromosome Location	chr13:49342369-49342370
allele	A/G
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	SETDB1	chr13:49342235-49342970	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49342359..49344964-chr13:49345478..49349332,4	K562	blood:

Variant related genes	Relation type
PSME2P2	TF binding region
ENSG00000225131	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1025235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1323554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17072194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17072196	1.00[EUR][1000 genomes]
rs56797165	1.00[AMR][1000 genomes]
rs57032491	1.00[AMR][1000 genomes]
rs57124495	0.81[AFR][1000 genomes]
rs57850097	0.85[AFR][1000 genomes]
rs58142652	1.00[AMR][1000 genomes]
rs59725117	1.00[AMR][1000 genomes]
rs60078151	1.00[EUR][1000 genomes]
rs7323683	1.00[EUR][1000 genomes]
rs73480204	1.00[AMR][1000 genomes]
rs73480220	1.00[AMR][1000 genomes]
rs73480233	1.00[AMR][1000 genomes]
rs73480245	1.00[AMR][1000 genomes]
rs73480249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480253	1.00[AMR][1000 genomes]
rs73480257	0.82[AFR][1000 genomes]
rs73480258	1.00[AMR][1000 genomes]
rs73482287	1.00[AMR][1000 genomes]
rs73482293	1.00[AMR][1000 genomes]
rs73482295	0.82[AFR][1000 genomes]
rs73482300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482301	1.00[AMR][1000 genomes]
rs73484304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73484316	1.00[AMR][1000 genomes]
rs7987892	1.00[EUR][1000 genomes]
rs7989755	1.00[EUR][1000 genomes]
rs7994259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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