Variant report

Variant	rs2060440
Chromosome Location	chr8:69532253-69532254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69532014..69534673-chr8:69610111..69611773,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11998496	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1347381	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1369224	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1434921	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap]
rs1434922	0.82[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs1434923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469788	0.90[CHB][hapmap]
rs1473266	0.90[CHB][hapmap]
rs1473267	0.90[CHB][hapmap]
rs1529831	0.90[CHB][hapmap]
rs16934777	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2164202	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2380484	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35583718	0.88[ASN][1000 genomes]
rs4477005	0.90[CHB][hapmap]
rs60779448	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6472409	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6472410	0.87[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6472411	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6980767	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6982437	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs6986162	0.88[ASN][1000 genomes]
rs7006075	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs7013043	0.90[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013431	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73270368	0.90[ASN][1000 genomes]
rs7825855	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7831265	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7831621	0.88[ASN][1000 genomes]
rs7840013	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs7845972	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs892704	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9692888	0.82[CEU][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890981	chr8:69413110-69534542	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv520587	chr8:69530428-69535622	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2060440	IL1RL1	trans	cerebellum	SCAN

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links