Variant report

Variant	rs7512465
Chromosome Location	chr1:76398690-76398691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76260266..76263027-chr1:76396916..76399571,2	K562	blood:

Variant related genes	Relation type
ENSG00000057468	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1021464	0.86[AFR][1000 genomes]
rs10465725	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11161872	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11161915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1144329	0.92[EUR][1000 genomes]
rs1146603	0.92[EUR][1000 genomes]
rs1146605	0.92[EUR][1000 genomes]
rs1146606	0.92[EUR][1000 genomes]
rs1146608	0.92[EUR][1000 genomes]
rs1146611	0.92[EUR][1000 genomes]
rs1146612	0.92[EUR][1000 genomes]
rs1146614	0.92[EUR][1000 genomes]
rs1146615	0.92[EUR][1000 genomes]
rs1146618	0.92[EUR][1000 genomes]
rs1146619	0.92[EUR][1000 genomes]
rs1146620	0.92[EUR][1000 genomes]
rs1146622	0.92[EUR][1000 genomes]
rs1146624	0.92[EUR][1000 genomes]
rs1146628	0.92[EUR][1000 genomes]
rs1146629	0.92[EUR][1000 genomes]
rs1146641	0.92[EUR][1000 genomes]
rs12074938	1.00[EUR][1000 genomes]
rs12079065	1.00[EUR][1000 genomes]
rs12079211	1.00[EUR][1000 genomes]
rs12079950	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12081631	1.00[EUR][1000 genomes]
rs12093817	0.92[EUR][1000 genomes]
rs12094698	0.92[EUR][1000 genomes]
rs13376397	1.00[EUR][1000 genomes]
rs1586936	0.86[AFR][1000 genomes]
rs17097567	1.00[EUR][1000 genomes]
rs17097707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17097710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55977041	1.00[EUR][1000 genomes]
rs56322662	1.00[EUR][1000 genomes]
rs57443433	1.00[EUR][1000 genomes]
rs5745309	1.00[EUR][1000 genomes]
rs5745418	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57798497	1.00[EUR][1000 genomes]
rs58125729	1.00[EUR][1000 genomes]
rs59723961	1.00[EUR][1000 genomes]
rs59932454	1.00[EUR][1000 genomes]
rs61124994	0.84[EUR][1000 genomes]
rs61612438	1.00[EUR][1000 genomes]
rs74090716	1.00[EUR][1000 genomes]
rs74090717	1.00[EUR][1000 genomes]
rs74090720	1.00[EUR][1000 genomes]
rs74090724	1.00[EUR][1000 genomes]
rs74090726	1.00[EUR][1000 genomes]
rs74090729	1.00[EUR][1000 genomes]
rs74090734	1.00[EUR][1000 genomes]
rs74090737	1.00[EUR][1000 genomes]
rs74090744	1.00[EUR][1000 genomes]
rs7544911	0.84[EUR][1000 genomes]
rs9970840	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1004669	chr1:76301198-76409451	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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