Variant report

Variant	rs62454371
Chromosome Location	chr7:27104869-27104870
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:30)

rs_ID	r²[population]
rs10276952	0.95[ASN][1000 genomes]
rs11977871	0.82[ASN][1000 genomes]
rs12673984	0.89[ASN][1000 genomes]
rs12674308	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12700785	0.84[ASN][1000 genomes]
rs1560621	0.81[ASN][1000 genomes]
rs17426751	0.86[AMR][1000 genomes]
rs17426772	0.86[AMR][1000 genomes]
rs17427218	0.90[ASN][1000 genomes]
rs17436757	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17436827	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17437154	0.93[ASN][1000 genomes]
rs17448689	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17448911	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17471054	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2301719	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28357116	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62446163	0.86[AMR][1000 genomes]
rs62448205	0.81[ASN][1000 genomes]
rs62454250	0.86[AMR][1000 genomes]
rs62454362	0.95[ASN][1000 genomes]
rs62454372	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62454374	0.93[ASN][1000 genomes]
rs62454375	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62457399	0.86[AMR][1000 genomes]
rs62457403	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62457404	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6948446	0.90[ASN][1000 genomes]
rs6953314	0.89[ASN][1000 genomes]
rs813501	0.86[AMR][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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27102800-27105200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:27103600-27106000	Enhancers	NHDF-Ad	bronchial
3	chr7:27103800-27106000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:27103800-27106800	Enhancers	Osteobl	bone
5	chr7:27104000-27106400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:27104200-27106800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:27104400-27105800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:27104600-27105000	Weak transcription	Hela-S3	cervix
9	chr7:27104600-27105000	Weak transcription	NHEK	skin

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