Variant report

Variant	rs2639331
Chromosome Location	chr1:71698461-71698462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1009311	0.91[ASN][1000 genomes]
rs11209745	0.81[AFR][1000 genomes]
rs11209756	0.95[ASN][1000 genomes]
rs11209757	0.88[ASN][1000 genomes]
rs11209761	0.86[ASN][1000 genomes]
rs11209762	0.86[ASN][1000 genomes]
rs11811835	0.86[ASN][1000 genomes]
rs12084460	0.82[AFR][1000 genomes]
rs12118599	0.91[ASN][1000 genomes]
rs12119958	0.95[ASN][1000 genomes]
rs12139565	0.87[ASN][1000 genomes]
rs12140289	0.81[ASN][1000 genomes]
rs12729268	0.91[ASN][1000 genomes]
rs12737582	0.86[ASN][1000 genomes]
rs12744775	0.86[ASN][1000 genomes]
rs1367767	0.86[ASN][1000 genomes]
rs1395289	0.86[ASN][1000 genomes]
rs1418449	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1431504	0.85[AFR][1000 genomes]
rs1546809	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573061	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1832900	0.85[ASN][1000 genomes]
rs1954285	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2066371	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2066373	0.95[ASN][1000 genomes]
rs2639329	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2639330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2639335	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2639338	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2694954	0.95[ASN][1000 genomes]
rs2790675	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2796187	0.93[ASN][1000 genomes]
rs2796188	0.93[ASN][1000 genomes]
rs2796189	0.93[ASN][1000 genomes]
rs2796190	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2796196	0.84[ASN][1000 genomes]
rs2796201	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2796202	0.91[ASN][1000 genomes]
rs2796203	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4367753	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4397614	0.91[ASN][1000 genomes]
rs4425938	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7525499	0.87[ASN][1000 genomes]
rs7556111	0.84[ASN][1000 genomes]
rs952337	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71695200-71700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:71696800-71698800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:71697400-71699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:71697800-71698600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:71698000-71698600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71698000-71700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:71698000-71700600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:71698200-71699800	Enhancers	Ovary	ovary
9	chr1:71698200-71700400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:71698400-71698800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:71698400-71699200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:71698400-71699400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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