Variant report

Variant	rs2050631
Chromosome Location	chr1:152312597-152312598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10749669	0.82[CHD][hapmap]
rs10749670	0.91[CHB][hapmap]
rs10788824	0.87[CHB][hapmap]
rs10888470	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs10888471	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs10888473	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs11204947	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs11204948	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs11204949	1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[JPT][hapmap]
rs11204978	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11204980	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs11204981	0.91[CHB][hapmap];0.97[CHD][hapmap];0.83[ASN][1000 genomes]
rs11583524	0.86[CHB][hapmap]
rs11584340	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs11584427	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11586114	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11587676	0.83[CHB][hapmap];0.93[CHD][hapmap]
rs11588170	0.97[ASN][1000 genomes]
rs11588174	0.95[CHD][hapmap]
rs12405241	0.96[ASN][1000 genomes]
rs12405278	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs12407156	0.98[ASN][1000 genomes]
rs12407553	0.84[ASN][1000 genomes]
rs12407748	0.86[ASN][1000 genomes]
rs12407807	0.96[ASN][1000 genomes]
rs1390488	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs1390490	0.87[CHB][hapmap]
rs1496045	0.95[CHD][hapmap]
rs1858479	0.83[ASN][1000 genomes]
rs1858480	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs1858482	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2065955	0.83[ASN][1000 genomes]
rs2065956	0.94[ASN][1000 genomes]
rs2184953	0.91[CHB][hapmap]
rs2338555	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2338556	0.94[ASN][1000 genomes]
rs3120659	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs3120662	0.94[ASN][1000 genomes]
rs3126066	0.91[CHB][hapmap]
rs3126067	0.81[ASN][1000 genomes]
rs3126085	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3126088	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3126089	0.94[ASN][1000 genomes]
rs3126091	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs3126092	0.94[ASN][1000 genomes]
rs3126095	0.94[ASN][1000 genomes]
rs3126098	0.94[ASN][1000 genomes]
rs34188926	0.83[ASN][1000 genomes]
rs41267154	0.82[ASN][1000 genomes]
rs4369233	0.82[ASN][1000 genomes]
rs4845423	0.82[CHD][hapmap]
rs4845736	0.95[CHD][hapmap]
rs4845745	0.82[CHB][hapmap];0.95[CHD][hapmap]
rs4845750	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs55650366	0.80[ASN][1000 genomes]
rs58832908	0.83[ASN][1000 genomes]
rs6587666	0.91[CHB][hapmap];0.97[CHD][hapmap];0.83[ASN][1000 genomes]
rs6661167	0.99[ASN][1000 genomes]
rs6666382	0.91[CHB][hapmap];0.97[CHD][hapmap]
rs6681433	0.82[ASN][1000 genomes]
rs6681457	0.83[ASN][1000 genomes]
rs6683653	0.81[ASN][1000 genomes]
rs72697000	0.85[ASN][1000 genomes]
rs72698906	0.98[ASN][1000 genomes]
rs7550106	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs877776	0.82[CHD][hapmap]

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	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv998298	chr1:152288685-152319877	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:152286600-152322200	Weak transcription	Ovary	ovary
2	chr1:152312400-152323800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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