Variant report

Variant	rs2840386
Chromosome Location	chr1:212703792-212703793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212702950..212707240-chr1:212782222..212787168,5	K562	blood:
2	chr1:212701761..212704711-chr1:212708514..212710681,2	K562	blood:
3	chr1:212701309..212704830-chr1:212779755..212783914,3	K562	blood:
4	chr1:212702412..212705298-chr1:212732068..212734031,2	K562	blood:
5	chr1:212696525..212698260-chr1:212702535..212704842,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 36 )
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]
rs2970541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525552	1.00[AMR][1000 genomes]
rs546035	1.00[AMR][1000 genomes]
rs565014	1.00[AMR][1000 genomes]
rs579218	0.97[AFR][1000 genomes]
rs580570	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs600959	1.00[AMR][1000 genomes]
rs609614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs611119	1.00[AMR][1000 genomes]
rs613464	1.00[AMR][1000 genomes]
rs613477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs615521	1.00[AMR][1000 genomes]
rs634906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs650703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs654256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs665435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs681533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs791852	1.00[AMR][1000 genomes]
rs9429892	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3504826	chr1:212699872-212703913	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3504827	chr1:212699924-212703851	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3504828	chr1:212699924-212703851	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv9006	chr1:212699936-212703922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3425646	chr1:212699988-212703802	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212699400-212704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:212699800-212705200	Weak transcription	Placenta	Placenta
3	chr1:212699800-212705800	Weak transcription	Left Ventricle	heart
4	chr1:212703000-212704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:212703000-212704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:212703000-212705400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:212703400-212703800	Bivalent Enhancer	Osteobl	bone

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