Variant report

Variant	rs72818478
Chromosome Location	chr2:48499705-48499706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48499034..48501158-chr2:48538819..48540781,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11676036	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11681409	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682633	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11684517	0.82[EUR][1000 genomes]
rs11686007	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11687708	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11688481	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1876812	0.88[ASN][1000 genomes]
rs55761545	0.82[ASN][1000 genomes]
rs55788229	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57131168	0.82[ASN][1000 genomes]
rs59697023	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60815228	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72818488	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72818491	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72818494	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72818502	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72820403	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72820404	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72820409	0.85[EUR][1000 genomes]
rs72820411	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72820415	0.81[ASN][1000 genomes]
rs72820416	0.81[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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48496600-48500600	Weak transcription	K562	blood
2	chr2:48497600-48502400	Weak transcription	Psoas Muscle	Psoas
3	chr2:48497800-48503600	Weak transcription	Liver	Liver
4	chr2:48498000-48503800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:48498600-48501600	Enhancers	GM12878-XiMat	blood
6	chr2:48499400-48499800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:48499600-48500800	Weak transcription	HepG2	liver

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