Variant report

Variant	rs56018259
Chromosome Location	chr2:77225631-77225632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10164510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10167876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184102	0.84[AFR][1000 genomes]
rs11886430	1.00[EUR][1000 genomes]
rs11889001	1.00[EUR][1000 genomes]
rs11902718	1.00[EUR][1000 genomes]
rs13382847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13413740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13416736	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13429893	1.00[EUR][1000 genomes]
rs17013259	1.00[EUR][1000 genomes]
rs17013361	1.00[EUR][1000 genomes]
rs2860936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4296455	1.00[EUR][1000 genomes]
rs55870012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56887555	1.00[EUR][1000 genomes]
rs57418699	1.00[EUR][1000 genomes]
rs59597957	1.00[EUR][1000 genomes]
rs6720238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921636	1.00[EUR][1000 genomes]
rs72921656	1.00[EUR][1000 genomes]
rs72921658	1.00[EUR][1000 genomes]
rs73940226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940240	1.00[EUR][1000 genomes]
rs73940246	1.00[EUR][1000 genomes]
rs73940262	1.00[EUR][1000 genomes]
rs73940264	1.00[EUR][1000 genomes]
rs73940269	1.00[EUR][1000 genomes]
rs73940270	1.00[EUR][1000 genomes]
rs73940272	1.00[EUR][1000 genomes]
rs7558964	1.00[EUR][1000 genomes]
rs7559563	1.00[EUR][1000 genomes]
rs7577448	1.00[EUR][1000 genomes]
rs7591205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9808165	0.97[AFR][1000 genomes];1.00[AMR][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	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv961764	chr2:77216571-77228053	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77224200-77226600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:77224400-77226800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:77225000-77226000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:77225000-77231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:77225400-77226000	Enhancers	HUVEC	blood vessel
6	chr2:77225600-77226400	Enhancers	Hela-S3	cervix

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