Variant report

Variant	rs10040056
Chromosome Location	chr5:127895438-127895439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10039900	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10053025	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10062344	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10063362	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10063961	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10477685	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10478812	0.84[CHB][hapmap]
rs10478813	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs10478814	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs11960575	0.84[CHB][hapmap]
rs17164094	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs17164113	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap]
rs17164127	1.00[CHD][hapmap];0.81[JPT][hapmap]
rs17839642	0.84[CHB][hapmap];1.00[CHD][hapmap]
rs3805652	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs55735252	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58889726	0.82[EUR][1000 genomes]
rs60975118	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6595830	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6595831	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap]
rs6595834	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6595836	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs6595837	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs6595841	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6595842	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6860199	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs6862508	0.81[JPT][hapmap]
rs6864057	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap]
rs6868664	0.81[JPT][hapmap]
rs6881855	0.81[JPT][hapmap]
rs6886186	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6892484	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6893116	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6893181	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6893248	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6893301	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73787623	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73787627	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs768744	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7703313	0.84[CHB][hapmap]
rs7708713	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap]
rs7713044	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7722917	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs7722950	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7723500	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7726535	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs9327478	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs981411	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:127895000-127895600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:127895000-127895600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:127895000-127895800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:127895000-127895800	Enhancers	HMEC	breast
5	chr5:127895000-127896000	Active TSS	A549	lung
6	chr5:127895000-127896000	Enhancers	NHEK	skin
7	chr5:127895000-127896200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:127895200-127895600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:127895200-127895600	Active TSS	Placenta	Placenta
10	chr5:127895200-127895800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:127895200-127896000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:127895200-127896000	Enhancers	Hela-S3	cervix

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