Variant report

Variant	rs55860639
Chromosome Location	chr4:48312338-48312339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48299110..48301166-chr4:48311658..48313371,2	K562	blood:
2	chr4:48306919..48308985-chr4:48310815..48312658,2	MCF-7	breast:
3	chr4:48307128..48308921-chr4:48310432..48312338,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11723080	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11947400	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1812667	0.81[EUR][1000 genomes]
rs2271265	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs309868	0.83[ASN][1000 genomes]
rs309870	0.83[ASN][1000 genomes]
rs309871	0.83[ASN][1000 genomes]
rs309873	0.83[ASN][1000 genomes]
rs309875	0.83[ASN][1000 genomes]
rs309887	1.00[EUR][1000 genomes]
rs418214	0.83[ASN][1000 genomes]
rs4695369	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55784928	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309366	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62309367	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62309371	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309372	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309398	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309400	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309401	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309402	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62311477	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62311483	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62311497	0.83[EUR][1000 genomes]
rs6833004	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48309000-48313800	Weak transcription	K562	blood
2	chr4:48311600-48312600	Weak transcription	Fetal Brain Male	brain

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