Variant report

Variant	rs4598493
Chromosome Location	chr1:221831279-221831280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221830865..221833221-chr1:221836408..221838119,2	MCF-7	breast:
2	chr1:221828900..221831688-chr1:221913117..221915245,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10779452	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779453	0.81[AMR][1000 genomes]
rs11118781	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11118782	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11118783	0.83[EUR][1000 genomes]
rs11118785	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11118786	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11118787	0.84[EUR][1000 genomes]
rs11118800	0.89[ASN][1000 genomes]
rs12034889	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12034891	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12038253	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12406067	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12740627	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12744344	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12744368	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12744805	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1949507	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2139349	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2176691	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4356058	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4504898	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661629	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6701049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7355123	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7520263	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7523649	0.93[ASN][1000 genomes]
rs7529202	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7539000	0.81[AMR][1000 genomes];0.84[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3340395	chr1:221827809-221832266	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221831200-221831600	Enhancers	Primary monocytes fromperipheralblood	blood

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