Variant report

Variant	rs72970292
Chromosome Location	chr4:167355204-167355205
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10010665	1.00[AFR][1000 genomes]
rs10019226	0.84[ASN][1000 genomes]
rs10019524	0.96[AFR][1000 genomes]
rs10028135	0.82[AFR][1000 genomes]
rs10030891	0.81[ASN][1000 genomes]
rs1011873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10213117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10213167	0.96[AFR][1000 genomes]
rs10213446	0.96[AFR][1000 genomes]
rs10517890	0.85[ASN][1000 genomes]
rs10517891	0.84[ASN][1000 genomes]
rs10517892	0.81[ASN][1000 genomes]
rs11100642	0.81[ASN][1000 genomes]
rs12502996	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12504155	0.86[ASN][1000 genomes]
rs12505587	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12507273	0.94[ASN][1000 genomes]
rs12507611	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1352964	1.00[ASN][1000 genomes]
rs1602681	1.00[ASN][1000 genomes]
rs17047576	0.96[AFR][1000 genomes]
rs17634848	0.87[ASN][1000 genomes]
rs17691380	0.87[ASN][1000 genomes]
rs17691405	0.85[ASN][1000 genomes]
rs17695575	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28497438	0.81[ASN][1000 genomes]
rs28861971	0.82[AFR][1000 genomes]
rs28864214	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28877343	0.82[AFR][1000 genomes]
rs4147010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4510432	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56755081	0.87[ASN][1000 genomes]
rs57315171	1.00[AFR][1000 genomes]
rs58332455	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61575174	0.80[ASN][1000 genomes]
rs6829268	0.89[ASN][1000 genomes]
rs72970262	0.93[AFR][1000 genomes]
rs9996104	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032009	chr4:167154813-167403235	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880900	chr4:167155443-167368812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv880967	chr4:167185391-167366567	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881405	chr4:167193885-167628013	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023051	chr4:167304814-168211540	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv537340	chr4:167304814-168211540	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1028788	chr4:167315021-167403235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167353200-167355800	Weak transcription	HMEC	breast
2	chr4:167353600-167356400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:167353800-167355600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:167354000-167356200	Weak transcription	Osteobl	bone
5	chr4:167354200-167356400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:167354400-167355800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:167354400-167355800	Weak transcription	HUVEC	blood vessel
8	chr4:167354600-167356400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:167354800-167355800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:167355200-167357600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:167355200-167357600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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