Variant report

Variant	rs59946045
Chromosome Location	chr2:77225996-77225997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1348832	0.97[ASN][1000 genomes]
rs1348833	0.97[ASN][1000 genomes]
rs1446716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013541	1.00[ASN][1000 genomes]
rs2028914	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58463979	0.86[AFR][1000 genomes]
rs61145558	0.86[AFR][1000 genomes]
rs61391187	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72807245	0.86[EUR][1000 genomes]
rs72807251	0.86[EUR][1000 genomes]
rs72807256	0.86[EUR][1000 genomes]
rs72821297	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72821299	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72823111	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72823116	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72823136	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72823138	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72823139	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72823141	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72823142	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823144	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823152	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72823157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823159	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823179	1.00[EUR][1000 genomes];0.93[ASN][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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