Variant report

Variant	rs12648055
Chromosome Location	chr4:21261499-21261500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10006105	0.88[CEU][hapmap]
rs10018523	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10516376	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[MKK][hapmap]
rs10516377	0.88[CEU][hapmap]
rs11936275	1.00[CEU][hapmap]
rs11943249	1.00[CEU][hapmap]
rs12640602	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12642021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364834	1.00[CEU][hapmap]
rs1425333	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap]
rs1425336	0.86[CEU][hapmap]
rs16867638	0.88[CEU][hapmap]
rs16870639	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs16870654	1.00[CEU][hapmap]
rs16870672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap]
rs17458108	0.88[CEU][hapmap]
rs1967398	0.88[CEU][hapmap];0.91[TSI][hapmap]
rs2162081	0.80[MEX][hapmap]
rs2322881	1.00[CEU][hapmap]
rs59556101	0.81[EUR][1000 genomes]
rs60195094	0.86[EUR][1000 genomes]
rs6448042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6448043	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs6821700	1.00[CEU][hapmap]
rs6832734	0.88[CEU][hapmap]
rs6839686	1.00[CEU][hapmap]
rs6839994	1.00[CEU][hapmap]
rs73249526	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73249540	0.89[EUR][1000 genomes]
rs7669586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9998813	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002610	chr4:21192993-21261812	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21261000-21261600	Enhancers	Gastric	stomach
2	chr4:21261200-21261600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:21261200-21261600	Enhancers	Pancreas	Pancrea
4	chr4:21261200-21261800	Enhancers	Fetal Brain Male	brain
5	chr4:21261400-21262600	Enhancers	HepG2	liver

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