Variant report

Variant	rs504361
Chromosome Location	chr1:212715344-212715345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2456824	1.00[AMR][1000 genomes]
rs2456826	1.00[AMR][1000 genomes]
rs2501843	1.00[AMR][1000 genomes]
rs2840386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525552	1.00[AMR][1000 genomes]
rs546035	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565014	1.00[AMR][1000 genomes]
rs579218	1.00[AFR][1000 genomes]
rs580570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs600959	1.00[AMR][1000 genomes]
rs609614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs611119	1.00[AMR][1000 genomes]
rs613464	1.00[AMR][1000 genomes]
rs613477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs615521	1.00[AMR][1000 genomes]
rs634906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs650703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs654256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs665435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs681533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs791852	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9429892	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised 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 target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212712800-212715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:212714000-212715800	Enhancers	Brain Hippocampus Middle	brain
3	chr1:212714000-212722600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:212714200-212719000	Weak transcription	Brain Anterior Caudate	brain
5	chr1:212714200-212719000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:212714200-212719200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:212714400-212719200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:212714600-212719000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:212715200-212716000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:212715200-212717800	Enhancers	Primary monocytes fromperipheralblood	blood

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