Variant report

Variant	rs953505
Chromosome Location	chr2:172106757-172106758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10803857	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930463	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11685357	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12611999	0.97[ASN][1000 genomes]
rs1319152	0.88[ASN][1000 genomes]
rs1477181	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861770	0.84[ASN][1000 genomes]
rs2111461	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2111462	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2160701	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193455	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4667681	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433286	0.88[ASN][1000 genomes]
rs6754377	0.88[ASN][1000 genomes]
rs72625231	0.99[ASN][1000 genomes]
rs7583118	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7598187	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7609530	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9287944	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172103200-172120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172103600-172107000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:172103800-172106800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:172104000-172107200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:172105200-172106800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr2:172105200-172106800	Enhancers	GM12878-XiMat	blood
8	chr2:172105200-172107000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:172105200-172107000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:172105200-172107200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:172105400-172106800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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

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