Variant report

Variant	rs2485779
Chromosome Location	chr13:38949476-38949477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:38922928..38925476-chr13:38947083..38949963,2	MCF-7	breast:
2	chr13:38936992..38939468-chr13:38949359..38952511,3	K562	blood:
3	chr13:38921615..38924538-chr13:38949215..38951805,2	K562	blood:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1011484	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10507469	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507470	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11693	1.00[CHD][hapmap]
rs1330964	1.00[CHD][hapmap]
rs1330965	1.00[CHD][hapmap]
rs1553300	1.00[CHD][hapmap]
rs1590952	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057355	1.00[CHB][hapmap]
rs17057710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019516	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2150468	1.00[CHD][hapmap]
rs2173948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231328	1.00[CHD][hapmap]
rs2231335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455408	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455413	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481877	1.00[CHD][hapmap]
rs2481880	1.00[CHD][hapmap]
rs2481887	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481888	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481892	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2485783	1.00[CHD][hapmap]
rs2496468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943583	1.00[CHD][hapmap]
rs56306542	1.00[ASN][1000 genomes]
rs7322186	1.00[ASN][1000 genomes]
rs73460283	1.00[ASN][1000 genomes]
rs74047550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047551	1.00[EUR][1000 genomes]
rs74047552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532209	1.00[CHD][hapmap]
rs9532217	1.00[ASN][1000 genomes]
rs9548318	1.00[CHD][hapmap]
rs9548328	1.00[ASN][1000 genomes]
rs9888482	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 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	chr13:38942200-38951000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38944200-38949600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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