Variant report

Variant	rs12640529
Chromosome Location	chr4:110075943-110075944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110069523..110071449-chr4:110073506..110076056,2	K562	blood:
2	chr4:110069732..110071645-chr4:110074751..110077289,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10007809	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs10030903	1.00[MEX][hapmap]
rs10033402	0.87[AMR][1000 genomes]
rs10488875	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs11939502	0.87[AMR][1000 genomes]
rs12649586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17039896	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17039914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17040025	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040052	0.84[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040089	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs17040097	0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2007788	0.82[CHB][hapmap]
rs2526439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704111	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503704	0.87[AMR][1000 genomes]
rs35128275	0.84[ASN][1000 genomes]
rs36050742	0.87[AMR][1000 genomes]
rs41390947	0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs41395650	0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs58194956	0.91[EUR][1000 genomes]
rs58601435	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849377	0.87[AMR][1000 genomes]
rs7675810	0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7677934	0.87[AMR][1000 genomes]
rs9999518	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110047000-110085400	Weak transcription	Hela-S3	cervix
2	chr4:110075400-110077400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:110075400-110078200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:110075600-110076200	Weak transcription	Fetal Kidney	kidney
5	chr4:110075600-110077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:110075600-110077400	Enhancers	NHDF-Ad	bronchial
7	chr4:110075800-110076800	Weak transcription	K562	blood
8	chr4:110075800-110083000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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